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Disturbances of Disturbances of PigmentationPigmentation
Rick Lin, D.O.Rick Lin, D.O.
MelaninMelanin
primary pigment producing brown colorationprimary pigment producing brown coloration Tyrosine – tyrosinase –melanin- this occurs Tyrosine – tyrosinase –melanin- this occurs
in the melanosomes of melanocytesin the melanosomes of melanocytes Then the melanosomes are transferred from Then the melanosomes are transferred from
the melanocyte to a group of keratinocytes the melanocyte to a group of keratinocytes called the epidermal melanin unitcalled the epidermal melanin unit
Variations in skin color is related to the Variations in skin color is related to the number of melanosomes, the degree of number of melanosomes, the degree of melanization, and the distribution of the melanization, and the distribution of the epidermal melanin unitepidermal melanin unit
Pigmentary Demarcation LinesPigmentary Demarcation Lines Can be divided into five categories:Can be divided into five categories: Group A- lines along the outer upper arms with Group A- lines along the outer upper arms with
variable extension across the chestvariable extension across the chest Group B-lines along the posteromedial aspect Group B-lines along the posteromedial aspect
of the lower limbof the lower limb Group C-Paired median or paramedian lines on Group C-Paired median or paramedian lines on
the chest, with midline abdominal extensionthe chest, with midline abdominal extension Group D-medial, over the spineGroup D-medial, over the spine Group E-bilaterally symmetrical, obliquely Group E-bilaterally symmetrical, obliquely
oriented, hypopigmented macules on the chest oriented, hypopigmented macules on the chest
Pigmentary Demarcation LinesPigmentary Demarcation Lines
More than 70% of blacks have one or More than 70% of blacks have one or more linesmore lines
These are much less common in These are much less common in whiteswhites
Type B lines often appear for the first Type B lines often appear for the first time during pregnancytime during pregnancy
Normal PigmentationNormal Pigmentation
Normal skin pigmentation is Normal skin pigmentation is influenced by:influenced by:
-the degree of vascularity-the degree of vascularity
-the amount & location of melanin-the amount & location of melanin
-the presence of carotene-the presence of carotene
-the thickness of the horny layer-the thickness of the horny layer
Melanin ProductionMelanin Production
The amount produced is dependent on:The amount produced is dependent on:
-genetics-genetics
-the amount and the wavelengths of -the amount and the wavelengths of ultraviolet light receivedultraviolet light received
-the amount of melanocyte-stimulating -the amount of melanocyte-stimulating hormone(MSH) secretedhormone(MSH) secreted
- the effect of melanoccytestimulatingg - the effect of melanoccytestimulatingg chemicals like furocoumarins (psoralens)chemicals like furocoumarins (psoralens)
Hemosiderin Hemosiderin HyperpigmnetationHyperpigmnetation
Pigmentation due to deposits of Pigmentation due to deposits of hemosiderin occurs in:hemosiderin occurs in:
-purpura-purpura
-hemochromatosis-hemochromatosis
-hemorrhagic diseases-hemorrhagic diseases
-stasis ulcers-stasis ulcers
** difficult to distinguish from ** difficult to distinguish from postinflammatory dermal melanosis postinflammatory dermal melanosis clinicallyclinically
Postinflammatory Postinflammatory HyperpigmentationHyperpigmentation
Any inflammatory condition can cause Any inflammatory condition can cause either hypopigmentation or either hypopigmentation or hyperpigmentationhyperpigmentation
Also may be a complication of chemical Also may be a complication of chemical peels, dermabrasion, laser therapy, or peels, dermabrasion, laser therapy, or liposuctionliposuction
Histologically, there is melanin in the Histologically, there is melanin in the upper dermis and around upper dermal upper dermis and around upper dermal vessels, located primarily in macrophages vessels, located primarily in macrophages (melanophages)(melanophages)
Postinflammatory Postinflammatory hyperpigmenationhyperpigmenation
Postinflammatory Postinflammatory hyperpigmentation hyperpigmentation following resolution following resolution of lymphocytoma of lymphocytoma cutis on the cheek cutis on the cheek of a black childof a black child
Industrial HyperpigmentationIndustrial Hyperpigmentation
Occurs in coal miners, anthracene Occurs in coal miners, anthracene workers, pitch workers, etcworkers, pitch workers, etc
Pigmentation of the face may occur Pigmentation of the face may occur from the incorporation in cosmetics from the incorporation in cosmetics of derivatives of coal tar, petrolatum, of derivatives of coal tar, petrolatum, or picric acid, mercury, lead, or picric acid, mercury, lead, bismuth, or furocoumarins bismuth, or furocoumarins (psoralens)(psoralens)
Systemic DiseasesSystemic Diseases
Syphilis, malaria, pellagra, and diabetesSyphilis, malaria, pellagra, and diabetes Addison’s disease- diffuse melanosis Addison’s disease- diffuse melanosis
pronounced in the axillae and palmar pronounced in the axillae and palmar creases, and nipples and genitals, and creases, and nipples and genitals, and buccal mucosabuccal mucosa
Diabetes produces diffuse bronzing of the Diabetes produces diffuse bronzing of the skinskin
** patients with virilizing adrenal tumors ** patients with virilizing adrenal tumors usually develop hyperpigmentation and usually develop hyperpigmentation and hypertrichosishypertrichosis
Systemic DiseasesSystemic Diseases Nelson’s syndrome (a Nelson’s syndrome (a
pituitary MSH-pituitary MSH-producing tumor) producing tumor)
PheochromocytomaPheochromocytoma HemochromatosisHemochromatosis AmyloidosisAmyloidosis ScurvyScurvy PregnancyPregnancy MenopauseMenopause Porphyria cutanea Porphyria cutanea
tardatarda
Vitamin B12 Vitamin B12 deficiencydeficiency
KwashiorkorKwashiorkor Vitamin A Vitamin A
deficiencydeficiency Primary biliary Primary biliary
cirrhosis (triad= cirrhosis (triad= hyperpigmentationhyperpigmentation, pruritis, , pruritis, xanthomas) xanthomas)
HemochromatosisHemochromatosis
Characterized by:Characterized by: Gray-brown Gray-brown
mucocutaneous mucocutaneous hyperpigmentatiohyperpigmentationn
Diabetes mellitusDiabetes mellitus hepatomegalyhepatomegaly
Usually are present:Usually are present: CirrhoisisCirrhoisis HypogonadismHypogonadism Liver cirrhosisLiver cirrhosis
HemochromatosisHemochromatosis
Skin pigmentaion is Skin pigmentaion is usually generalizedusually generalized
But, more pronounced But, more pronounced on face, extensor aspect on face, extensor aspect of the forearms, backs of of the forearms, backs of the hands, and the the hands, and the geniocrural areageniocrural area
Iron is deposited in the Iron is deposited in the skinskin
Iron is present as Iron is present as granules around blood granules around blood vessels and sweat glands vessels and sweat glands and within macrophagesand within macrophages
The actual The actual pigmentation is pigmentation is caused by increased caused by increased basal-layer melaninbasal-layer melanin
Mucous memebranes Mucous memebranes are pigmented in up are pigmented in up to 20% of patientsto 20% of patients
Koilonychia is present Koilonychia is present in 50%in 50%
Localized ichthyosis Localized ichthyosis in 40%in 40%
Alopecia is common Alopecia is common
Hemochromatosis-txHemochromatosis-tx Phlebotomy until Phlebotomy until
satisfactory iron levels satisfactory iron levels are foundare found
Extracorporeal Extracorporeal chelation has also chelation has also been used been used successfullysuccessfully
Associated DM Associated DM requires medical txrequires medical tx
Long-term Long-term complications are complications are cirrhosis and then cirrhosis and then hepatomashepatomas
MelasmaMelasma
Brown patches, sharply Brown patches, sharply demarcated, typically on demarcated, typically on the malar prominences the malar prominences and foreheadand forehead
The three clinical The three clinical patterns are: patterns are: centrofacial, malar, centrofacial, malar, mandibularmandibular
Increased pigment may Increased pigment may simultaneously occur simultaneously occur around the nipples and around the nipples and external genitaliaexternal genitalia
Tends to affect the Tends to affect the darker-complecteddarker-complected
It may also be found on It may also be found on the forearmsthe forearms
Occurs at pregnancy Occurs at pregnancy and at menopauseand at menopause
It may also be seen in It may also be seen in ovarian disorders and ovarian disorders and other endocrine other endocrine disordersdisorders
Most frequently 90% of Most frequently 90% of the time seen in women, the time seen in women, 10% in men10% in men
MelasmaMelasma
Strong association Strong association with the use of birth with the use of birth control pills or dilantincontrol pills or dilantin
Discontinuing the Discontinuing the contraceptives rarely contraceptives rarely clears the clears the pigmentation, and it pigmentation, and it may last for years may last for years after discontinuing after discontinuing them.them.
Melasma of pregnancy Melasma of pregnancy usually clears within a usually clears within a few months of deliveryfew months of delivery
Tx- avoid sunlight, and a Tx- avoid sunlight, and a complete sun block with complete sun block with broad-spectrum UVA broad-spectrum UVA coverage should be used coverage should be used dailydaily
Kligman’s formula (Triluma)Kligman’s formula (Triluma) > then 4% hydroquinone > then 4% hydroquinone
may be neededmay be needed Side effects of this is Side effects of this is
ochronosis and satellite ochronosis and satellite pigmentationpigmentation
Jessner’s solution, glycolic Jessner’s solution, glycolic acid peels,azelaic acid, kojic acid peels,azelaic acid, kojic acid, and cystamine and acid, and cystamine and buthionine sulfoximine are buthionine sulfoximine are other optionsother options
MelasmaMelasma
MelasmaMelasma
MelasmaMelasma
Acromelanosis ProgressivaAcromelanosis Progressiva AKA acropigmentationAKA acropigmentation A progressive A progressive
pigmentary disorder pigmentary disorder first described in a first described in a Japanese infantJapanese infant
Characterized by diffuse Characterized by diffuse black pigmentation on black pigmentation on the dorsum of all the the dorsum of all the fingers and toesfingers and toes
Pigmentation became Pigmentation became progressively more progressively more widespread and more widespread and more pigmentedpigmented
By age 4 or 5 the By age 4 or 5 the perineum, perineum, extremities, and extremities, and areas of the head areas of the head and neck were and neck were involvedinvolved
Epileptiform Epileptiform seizures occurredseizures occurred
History revealed History revealed consanguinityconsanguinity
Pigmented Anomalies of the Pigmented Anomalies of the ExtremitiesExtremities
Acropigmentation of Acropigmentation of DohiDohi
Found to affect Found to affect individuals from individuals from Europe, India, Europe, India, CaribbeanCaribbean
First described in Japan First described in Japan in 12 patientsin 12 patients
AKA AKA dyschromatosis dyschromatosis symmetrica hereditaria symmetrica hereditaria oror symmetrical symmetrical dyschromatosis of the dyschromatosis of the extremitiesextremities
Patients develop Patients develop progressive progressive pigmented & pigmented & depigmented maculesdepigmented macules
Often mixed in is a Often mixed in is a reticulate patternreticulate pattern
Many believe this to Many believe this to be a variation of be a variation of acropigmentation of acropigmentation of KitamuraKitamura
Reticular Pigmented Anomaly of Reticular Pigmented Anomaly of the Flexuresthe Flexures
It begins age 20 to It begins age 20 to 30 yrs and 30 yrs and progresses progresses graduallygradually
Unknown etiology Unknown etiology AD with variable AD with variable
penetrance and penetrance and expressivity, and expressivity, and delayed onsetdelayed onset
Many authors believe Many authors believe it is a spectrum of it is a spectrum of reticulate reticulate acropigmentation of acropigmentation of Kitamura Kitamura
Another manifestation Another manifestation of this disorder is of this disorder is familial-rocacea-like familial-rocacea-like dermatitis with warty dermatitis with warty keratotic plaques on keratotic plaques on the trunk and limbsthe trunk and limbs
There is no treatmentThere is no treatment
Reticular pigmented anomaly of the flexuresReticular pigmented anomaly of the flexures J. B. Howell and R. G. Freeman J. B. Howell and R. G. Freeman
Reticular pigmented anomaly of the flexures Reticular pigmented anomaly of the flexures (Dowling-Degos' anomaly) is a rare, benign, new (Dowling-Degos' anomaly) is a rare, benign, new genodermatosis that has recently evolved from genodermatosis that has recently evolved from independent observations and studies by several independent observations and studies by several dermatologists. Because of its favorable dermatologists. Because of its favorable prognosis, differentiation of this benign disorder prognosis, differentiation of this benign disorder from acanthosis nigricans, a cutaneous marker of from acanthosis nigricans, a cutaneous marker of possible or existing internal malignant disease, is possible or existing internal malignant disease, is highly important. Careful clinical appraisal of the highly important. Careful clinical appraisal of the eruption in correlation with the characteristic eruption in correlation with the characteristic microscopic features makes the diagnosis simple microscopic features makes the diagnosis simple and straightforward. and straightforward.
HistologyHistology
Distinctive Distinctive elongation, tufting, elongation, tufting, and deep and deep hyperpigmentation hyperpigmentation of therete ridges, of therete ridges, with protrusion of with protrusion of similar tufts even similar tufts even from the sides of from the sides of the folliclesthe follicles
Reticulate Acropigmentation of Reticulate Acropigmentation of KitamuraKitamura
ADAD Characterized by Characterized by
linear palmar pits linear palmar pits and pigmented and pigmented macules 1-4 mm in macules 1-4 mm in diameter on the diameter on the volar and dorsal volar and dorsal aspects of the aspects of the hands and feethands and feet
One report of a pt with One report of a pt with bony abnormalities bony abnormalities consisting of absence consisting of absence of terminal phalanges of terminal phalanges of the second, third, of the second, third, and fourth toesand fourth toes
Some tx success has Some tx success has been reported using been reported using axelaic acid ointmentaxelaic acid ointment
Dermatopathia Pigmentosa Dermatopathia Pigmentosa ReticularisReticularis
Consists of a triad of Consists of a triad of generalized reticulate generalized reticulate hyperpigmentation, hyperpigmentation, noncicatricial alopecia, noncicatricial alopecia, and onychodystrophyand onychodystrophy
Other associations: Other associations: adermatoglyphia, adermatoglyphia, hypohidrosis or hypohidrosis or hyperhidrosis, hyperhidrosis, palmoplantar palmoplantar hyperkeratosis, and hyperkeratosis, and nonscarring blisters on nonscarring blisters on dorsa of hands and dorsa of hands and feet.feet.
An autosomal An autosomal dominant dominant inheritance pattern inheritance pattern has been reported.has been reported.
Dermatopathia Pigmentosa Dermatopathia Pigmentosa ReticularisReticularis
Transient Neonatal Pustular Transient Neonatal Pustular MelanosisMelanosis
Infants develop 2- Infants develop 2- 3mm macules, 3mm macules, pustules, and pustules, and ruptured pustules ruptured pustules at birth, at birth, predominantly predominantly involving the faceinvolving the face
Pigmentation may Pigmentation may last for weeks or last for weeks or months after the months after the pustules are healedpustules are healed
Histologically, there are Histologically, there are intracorneal or intracorneal or subcorneal aggregates subcorneal aggregates of predominantly of predominantly neutrophils, but neutrophils, but eosinophils may also be eosinophils may also be foundfound
Dermal inflammation is Dermal inflammation is composed of an composed of an admixture of neuts and admixture of neuts and eoseos
Differential dx: ETN, Differential dx: ETN, neonatal acne, & neonatal acne, & acropustulosis of infancyacropustulosis of infancy
Transient Pustular Neonatal Transient Pustular Neonatal MelanosisMelanosis
Transient Neonatal Pustular Transient Neonatal Pustular MelanosisMelanosis
Peutz-JeghersPeutz-Jeghers
Characterized by Characterized by hyperpigmented macules hyperpigmented macules on the lips and oral on the lips and oral mucosa and polyposis of mucosa and polyposis of the small intestinethe small intestine
Dark brown or black Dark brown or black macules appear typically macules appear typically on the lips, especially the on the lips, especially the lower lip, in infancy or lower lip, in infancy or childhoodchildhood
Similar lesions may Similar lesions may appear on buccal appear on buccal mucosa, tongue, gingiva, mucosa, tongue, gingiva, and genital mucosaand genital mucosa
Associated polyposis Associated polyposis involves the small involves the small intestine preferencelyintestine preferencely
But, hamartomatous But, hamartomatous polyps of the stomach polyps of the stomach and colon may occurand colon may occur
Symptoms of Symptoms of hamhartomas of the hamhartomas of the small intestine may small intestine may cause repeated bouts of cause repeated bouts of abdominal pain and abdominal pain and vomiting, and vomiting, and intussusceptionintussusception
Peutz-Jeghers syndromePeutz-Jeghers syndrome
Lip lentigenes in an Lip lentigenes in an adolescent with adolescent with Peutz-Jeghers Peutz-Jeghers syndromesyndrome
P-J syndromeP-J syndrome
PathologyPathology
Reihl’s MelanosisReihl’s Melanosis
Photosensitivity, Photosensitivity, phototoxic dermatitisphototoxic dermatitis
Begins with pruritis, Begins with pruritis, erythema, and erythema, and pigmentation, pigmentation, gradually spreads, gradually spreads, then becomes then becomes stationarystationary
Melanosis occurs Melanosis occurs mostly in women and mostly in women and develops over monthsdevelops over months
Characteristic feature Characteristic feature is spotty light to dark is spotty light to dark brown pigmentationbrown pigmentation
Most intense on the Most intense on the forehead, malar forehead, malar regions, behind the regions, behind the ears, on the sides of ears, on the sides of the neck, on other the neck, on other sun-exposed areassun-exposed areas
Also circumscribed Also circumscribed telangiectasia and telangiectasia and temporary hyperemiatemporary hyperemia
Tar MelanosisTar Melanosis An occupational An occupational
dermatosis occurring dermatosis occurring among tar handlers among tar handlers after years of exposureafter years of exposure
Severe, widespread Severe, widespread itching develops, itching develops, followed by reticular followed by reticular pigmentation, pigmentation, telangiectases, and a telangiectases, and a shiny appearance of shiny appearance of the skinthe skin
There is a tendency for There is a tendency for hyperhidrosishyperhidrosis
Small, dark, lichenoid, Small, dark, lichenoid, follicular papules follicular papules become profuse on become profuse on the extremities, the extremities, namely the forearmsnamely the forearms
Bullae are sometimes Bullae are sometimes observedobserved
Represents a Represents a photosensitivity or photosensitivity or phototoxicity induced phototoxicity induced by tarby tar
Universal Acquired Universal Acquired Melanosis(Carbon Baby)Melanosis(Carbon Baby)
Ruiz-Maldonado Ruiz-Maldonado reported a case of reported a case of a Mexican child, a Mexican child, born white, who born white, who progressively progressively became blackbecame black
Developed Developed pigmentation of pigmentation of the palms, soles, the palms, soles, mucous mucous membranesmembranes
EM showed a EM showed a negroid pattern in negroid pattern in the melanosomes the melanosomes of the epidermal of the epidermal melanocytes and melanocytes and keratinocyteskeratinocytes
Melanocytes were Melanocytes were not increased in not increased in numbernumber
Periorbital HyperpigmentationPeriorbital Hyperpigmentation
1.) Familial 1.) Familial periorbital periorbital melanosis (AD)melanosis (AD)
Usually involves all Usually involves all four eyelids, may four eyelids, may extend to involve extend to involve the eyebrows and the eyebrows and cheekscheeks
2.) Erythema 2.) Erythema dyschromicum dyschromicum perstans is a rare perstans is a rare causecause
3.) Familial dark 3.) Familial dark circles around the circles around the eyes, frequently eyes, frequently seen in individuals seen in individuals of Mediterranean of Mediterranean ancestryancestry
Metallic DiscolorationsMetallic Discolorations
Pigmentation from deposition of fine Pigmentation from deposition of fine metallic particles in the skinmetallic particles in the skin
Metal may be carried to skin from the Metal may be carried to skin from the blood stream or may permeate into it blood stream or may permeate into it from surface applicationsfrom surface applications
ArgyriaArgyria Localized or widespread Localized or widespread
slate-colored slate-colored pigmentation pigmentation
Due to silver in the skinDue to silver in the skin Most noticeable in parts Most noticeable in parts
exposed to sunlightexposed to sunlight Tissue silver may Tissue silver may
stimulate melanocytesstimulate melanocytes Initially discoloration is Initially discoloration is
hardly perceptible, hardly perceptible, having only a faint blue having only a faint blue color, but a slate-gray color, but a slate-gray color develops with timecolor develops with time
Local tx with a silver-Local tx with a silver-containing product may containing product may produce argyriaproduce argyria
Examples: conjunctivae, from Examples: conjunctivae, from eye drops; a wound from eye drops; a wound from sulfadiazine cream, earlobes sulfadiazine cream, earlobes from silver earings; and from from silver earings; and from silver acupuncture needlessilver acupuncture needles
Can also occur from Can also occur from occupational exposure, occupational exposure, usually siversmithsusually siversmiths
In localized exposures, the In localized exposures, the appearance may be appearance may be separated by many years separated by many years from the exposurefrom the exposure
HistologyHistology
Systemic and localized argria have the Systemic and localized argria have the same featuressame features
Normal appearing skin under low powerNormal appearing skin under low power Fine black granules in the basement zone Fine black granules in the basement zone
of the sweat glands,blood vessel walls, d-e of the sweat glands,blood vessel walls, d-e junction, and arrector pili musclesjunction, and arrector pili muscles
Unstained biopsy section by darkfield Unstained biopsy section by darkfield illumination demonstrates silver granules illumination demonstrates silver granules outlining basement membrane of the outlining basement membrane of the epidermis and the eccrine sweat glandsepidermis and the eccrine sweat glands
BismuthBismuth
Rarely associated with deposition of Rarely associated with deposition of metallic particles in gums when used IM or metallic particles in gums when used IM or orallyorally
Also known as the Also known as the bismuth linebismuth line Presence of stomatitis or peridontitis Presence of stomatitis or peridontitis
increased the risk increased the risk Generalized cutaneous discoloration, in Generalized cutaneous discoloration, in
addition to oral mucous membrane and addition to oral mucous membrane and conjunctival pigmentation resembling conjunctival pigmentation resembling argyria has occurred but has not be argyria has occurred but has not be reported in the last 50 yearsreported in the last 50 years
LeadLead
Chronic lead poisoning can produce a Chronic lead poisoning can produce a “lead hue” with lividity and pallor“lead hue” with lividity and pallor
Deposit of lead in the gums may Deposit of lead in the gums may occur and is known as the “lead occur and is known as the “lead line”line”
IronIron
In the past, soluble iron compounds In the past, soluble iron compounds were used in the treatment of were used in the treatment of allergic contact dermatitidesallergic contact dermatitides
In eroded areas iron was sometimes In eroded areas iron was sometimes deposited in the skin, like a tattoodeposited in the skin, like a tattoo
Use of Monsel’s solution can produce Use of Monsel’s solution can produce similar tattooingsimilar tattooing
GoldGold
Chrysiasis may be induced by parenteral Chrysiasis may be induced by parenteral administration of gold salts, usually for the administration of gold salts, usually for the treatment of rheumatoid arthritistreatment of rheumatoid arthritis
More commonly recognized in white patientsMore commonly recognized in white patients A mauve, blue, or slate/gray pigmentation A mauve, blue, or slate/gray pigmentation
develops initially on the eyelids, spreading to develops initially on the eyelids, spreading to the face, dorsal hands, and other areasthe face, dorsal hands, and other areas
Severity is related to the total dose received, Severity is related to the total dose received, rare < a dose of 20 mg/kg of elemental goldrare < a dose of 20 mg/kg of elemental gold
MercuryMercury
Mercurial pigmentation in the skin is Mercurial pigmentation in the skin is rare, especially since the use of rare, especially since the use of mercurials has been strictly mercurials has been strictly controlledcontrolled
Most common presentation is Most common presentation is subcutaneous nodules that result subcutaneous nodules that result from accidental implantation of from accidental implantation of elemental mercury from a elemental mercury from a thermometer into skinthermometer into skin
CanthaxanthinCanthaxanthin
Orange-red pigment canthaxanthin is Orange-red pigment canthaxanthin is present in many plants ( notably algae and present in many plants ( notably algae and mushrooms) and in bacteria. Crustaceans, mushrooms) and in bacteria. Crustaceans, sea trout, and featherssea trout, and feathers
When ingested for the purpose of When ingested for the purpose of simulating a tan, its deposition in the simulating a tan, its deposition in the panniculus imparts a golden orange hue to panniculus imparts a golden orange hue to the skinthe skin
Stools become brick red and the plasma Stools become brick red and the plasma orange, and golden deposits appear in the orange, and golden deposits appear in the retinaretina
Dye DiscolorationDye Discoloration
Blue hands from accidental dyeing Blue hands from accidental dyeing were reported by Albert in 1976were reported by Albert in 1976
A man’s hands were dyed as a result A man’s hands were dyed as a result of warming them in his armpits while of warming them in his armpits while wearing a new blue flannel shirtwearing a new blue flannel shirt
The dye was insoluble in water, but The dye was insoluble in water, but soluble in sweatsoluble in sweat
RubeosisRubeosis
A rosy coloration of the face A rosy coloration of the face occurring in young people with occurring in young people with uncontrolled diabetes mellitusuncontrolled diabetes mellitus
May be associated with May be associated with xanthochromia to produce a xanthochromia to produce a “peaches and cream” complexion“peaches and cream” complexion
VitiligoVitiligo
Usually begins in childhood or young Usually begins in childhood or young adulthoodadulthood
50% of cases begin before age 2050% of cases begin before age 20 Prevalence ranges from 0.5% to 1%Prevalence ranges from 0.5% to 1% Females are disproportionately Females are disproportionately
represented among patients seeking represented among patients seeking medical care, it is not known if it is medical care, it is not known if it is actually more common in females or actually more common in females or simply because they more often bring it to simply because they more often bring it to their physicians attentiontheir physicians attention
Clinical FeaturesClinical Features An acquired pigmentary anomaly of the An acquired pigmentary anomaly of the
skinskin Manifested by depigmented white patches Manifested by depigmented white patches
surrounded by a normal or a surrounded by a normal or a hyperpigmented borderhyperpigmented border
There may be intermediate tan zones or There may be intermediate tan zones or lesions , halfway between the normal skin lesions , halfway between the normal skin color and depigmentaton-so-called color and depigmentaton-so-called trichrome vitiligotrichrome vitiligo
Hairs in vitiliginous areas usually become Hairs in vitiliginous areas usually become white alsowhite also
TypesTypes
Localized or focal(including Localized or focal(including segmental)segmental)
GeneralizedGeneralized UniversalUniversal AcrofacialAcrofacial
VitiligoVitiligo
Generalized is the most commonGeneralized is the most common Involvement is symmetricalInvolvement is symmetrical Most commonly involving the face, upper Most commonly involving the face, upper
chest, dorsal aspects of the hands, axillae, chest, dorsal aspects of the hands, axillae, and groinand groin
Tendency for skin around orifices to be Tendency for skin around orifices to be affected (eyes,nose, mouth, ears, nipples, affected (eyes,nose, mouth, ears, nipples, umbilicus, penis, vulva, anus)umbilicus, penis, vulva, anus)
Lesions also favor areas of trauma (elbows Lesions also favor areas of trauma (elbows and knees)and knees)
Generalized VitiligoGeneralized Vitiligo
Involvement of Involvement of perineal and perineal and inguinal skininguinal skin
Note the distinct Note the distinct bordersborders
Acral VitiligoAcral Vitiligo
Symmetric, Acral VitiligoSymmetric, Acral Vitiligo
Left: pre-PUVA treatmentLeft: pre-PUVA treatment Right:same pt shows perifollicular Right:same pt shows perifollicular
pattern of repigmentation during pattern of repigmentation during PUVA therapyPUVA therapy
Segmental VitiligoSegmental Vitiligo
Rapidly progressing Rapidly progressing segmental vitiligosegmental vitiligo
Segmental VitiligoSegmental Vitiligo
Segmental vitiligo Segmental vitiligo of the eyebrow and of the eyebrow and eyelasheseyelashes
Segmental VitiligoSegmental Vitiligo
Segmental vitiligo on Segmental vitiligo on the arm , neck, and the arm , neck, and chestchest
Note areas of Note areas of spontaneous follicular spontaneous follicular repigmentationrepigmentation
Left upper back with Left upper back with partial spontaneous partial spontaneous repigmentationrepigmentation
Universal VitiligoUniversal Vitiligo
Applies to cases Applies to cases where the entire where the entire body surface is body surface is depigmenteddepigmented
Acrofacial VitiligoAcrofacial Vitiligo
Type affecting the Type affecting the distal fingers and distal fingers and the facial orificesthe facial orifices
Childhood VitiligoChildhood Vitiligo
Shows an increase Shows an increase in segmental in segmental presentationpresentation
More frequent More frequent autoimmune or autoimmune or endocrine endocrine anomaliesanomalies
High incidence of High incidence of premature graying premature graying in femalesin females
Poor response to Poor response to PUVA therapyPUVA therapy
VitiligoVitiligo
Completely Completely depigmented oval depigmented oval ivory white areas ivory white areas with convex with convex hyperpigmentated hyperpigmentated bordersborders
VitiligoVitiligo
Vitiligo with Vitiligo with depigmentation of depigmentation of the lipsthe lips
Chemical DepigmentationChemical Depigmentation
Chemical Chemical depigmentation depigmentation due to a germicidal due to a germicidal detergentdetergent
Pts usually improve Pts usually improve with with discontinuation of discontinuation of the offending the offending agentagent
PathogenesisPathogenesis
Three possible mechanisms have Three possible mechanisms have been proposed as inducing vitiligo been proposed as inducing vitiligo are autoimmunity, neurohumoral are autoimmunity, neurohumoral factors, and autocytotoxicityfactors, and autocytotoxicity
No mechanism has been conclusively No mechanism has been conclusively provenproven
HistologyHistology
There is complete There is complete loss of loss of melanocytes melanocytes
Usually there is no Usually there is no inflammatory inflammatory componentcomponent
DifferentialDifferential
MorpheaMorphea Lichen sclerosisLichen sclerosis Pityriasis albaPityriasis alba Tinea versicolor tertiary pintaTinea versicolor tertiary pinta
TreatmentTreatment Spontaneous Spontaneous
repigmentation occurs repigmentation occurs in no more than 15% to in no more than 15% to 25% of cases25% of cases
Response is slowResponse is slow PUVA may actually PUVA may actually
worsen the appearance worsen the appearance initially by pigmenting initially by pigmenting surrounding skinsurrounding skin
Cover-up Cover-up strategies(topical dyes, strategies(topical dyes, make-up, self-tanning make-up, self-tanning creams)creams)
Fair-skinned pts may Fair-skinned pts may manage their disease with manage their disease with sunblocksunblock
Sun protection is mandatory Sun protection is mandatory in all pts with vitiligo in all pts with vitiligo because of the loss of because of the loss of protection from UV radiation protection from UV radiation in the depigmented skinin the depigmented skin
Topical steroids may be Topical steroids may be useful on focal or limited useful on focal or limited lesionslesions
Mid to super high-potency Mid to super high-potency steroids are often required steroids are often required on trunk and acral lesions on trunk and acral lesions with the strength tapered as with the strength tapered as the lesions respondthe lesions respond
If > 50% of the body surface area is If > 50% of the body surface area is affected by vitiligo, the pt can consider affected by vitiligo, the pt can consider depigmentationdepigmentation
This tx is permanentThis tx is permanent Monobenzone 20% is applied BID for 3-6 Monobenzone 20% is applied BID for 3-6
months to residual pigmented areasmonths to residual pigmented areas Up to 10 months may be requiredUp to 10 months may be required One in six pts will experience acute One in six pts will experience acute
dermatitis, usually confined to the still-dermatitis, usually confined to the still-pigmented areaspigmented areas
VitiligoVitiligo
Partial Partial repigmentation of repigmentation of lesions of vitiligo lesions of vitiligo on the leg of a 14-on the leg of a 14-year-old child at year-old child at the end of the the end of the summer of sun summer of sun exposureexposure
VitiligoVitiligo
Partial Partial repigmenation of repigmenation of vitiligo following vitiligo following psorralen-psorralen-ultraviolet light ultraviolet light (PUVA) therapy(PUVA) therapy
VitiligoVitiligo
Permanent Permanent repigmentation repigmentation after 2 years of after 2 years of photochemotherapphotochemotherapy (tripsoralen y (tripsoralen followed by followed by sunlight exposure)sunlight exposure)
Vogt-Koyanagi-Harada Vogt-Koyanagi-Harada SyndromeSyndrome
Characterized by bilateral uveitis, Characterized by bilateral uveitis, symmetrical vitiligo, alopecia, white scalp symmetrical vitiligo, alopecia, white scalp hair, eyelashes and brows(poliosis, and hair, eyelashes and brows(poliosis, and dysacousia(diminished hearing)dysacousia(diminished hearing)
Occurs in thirtiesOccurs in thirties Initial or meningoencephalitic phase Initial or meningoencephalitic phase
occurs with prodromata of fever, malaise, occurs with prodromata of fever, malaise, headache, nausea, and vomitingheadache, nausea, and vomiting
Also may have psychosis, paraplegia, Also may have psychosis, paraplegia, hemiparesis, aphagia, and nuchal rididityhemiparesis, aphagia, and nuchal rididity
Recovery is usually completeRecovery is usually complete
VKHSVKHS
Second phase(ophthalmic-auditory Second phase(ophthalmic-auditory stage) is characterized by uveitis, stage) is characterized by uveitis, dreased visual acuity, photopobia, dreased visual acuity, photopobia, and decreased hearing(50%)and decreased hearing(50%)
The convalescent phase begins The convalescent phase begins 3weeks to 3 months after it begins to 3weeks to 3 months after it begins to improveimprove
Alezzandrini’s SyndromeAlezzandrini’s Syndrome
Extremely rare syndrome Extremely rare syndrome characterized by a unilateral characterized by a unilateral degenerative retinitsdegenerative retinits
This is followed several months later This is followed several months later by ipsilateral vitiligo on the face and by ipsilateral vitiligo on the face and ipsilateral poliosisipsilateral poliosis
Deafness may also be presentDeafness may also be present
Alezzandrini’s SyndromeAlezzandrini’s Syndrome
LeukodermaLeukoderma
Postinflammatory leukoderma may result Postinflammatory leukoderma may result from inflammatory dermatoses ie:from inflammatory dermatoses ie:
Pityriasis rosea, psoriasis, herpes zoster, Pityriasis rosea, psoriasis, herpes zoster, secondary syphilis, and morphea, secondary syphilis, and morphea, sarcoidosis, tinea versicolor, mycosis sarcoidosis, tinea versicolor, mycosis fungoides, scleroderma, and pityriasis fungoides, scleroderma, and pityriasis lichenoides chronica, and leprosylichenoides chronica, and leprosy
Other causes: burns, scars, Other causes: burns, scars, postdermabrasion, and intralesioal steroid postdermabrasion, and intralesioal steroid injectionsinjections
LeukodermaLeukoderma
Postinflammatory Postinflammatory hypopigmentation hypopigmentation in a 4-month-old in a 4-month-old black child with black child with atopic dermatitisatopic dermatitis
LeukodermaLeukoderma
Postinflammatory Postinflammatory hypopigmentation hypopigmentation following resolution following resolution of guttate psoriasisof guttate psoriasis
Pityriasis albaPityriasis alba Ill-defined Ill-defined
hypopigmented oval hypopigmented oval patches are generally patches are generally seen on the face, seen on the face, upper arms, neck, and upper arms, neck, and shoulders of affected shoulders of affected personspersons
It can be differentiated It can be differentiated from vitiligo by its fine from vitiligo by its fine adherent scale, partial adherent scale, partial hypopigmentation, hypopigmentation, and distributionand distribution
Pityriasis albaPityriasis alba
White, slightly White, slightly scaly patches with scaly patches with indistinct borders indistinct borders on a child’s cheekon a child’s cheek
Postinflammatory Postinflammatory hypopigmentationhypopigmentation
AlbinismAlbinism
A partial or complete congential absence A partial or complete congential absence of pigment in the skin, hair, and eyes of pigment in the skin, hair, and eyes (oculocutaneous albinism), or the eyes (oculocutaneous albinism), or the eyes alone (ocular albinism)alone (ocular albinism)
Cutaneous phenotype of the various forms Cutaneous phenotype of the various forms is broad, but the ocular phenotype is is broad, but the ocular phenotype is reasonably constant in most formsreasonably constant in most forms
The ocular phenotype includes decreased The ocular phenotype includes decreased visual acuity, nystagmus, pale irides that visual acuity, nystagmus, pale irides that transilluminate, hypopigmented fundi, transilluminate, hypopigmented fundi, hypoplastic foveae, and lack of stereopsishypoplastic foveae, and lack of stereopsis
AlbinismAlbinism
This pt has light This pt has light skin, yellowish skin, yellowish white hair, and a white hair, and a lack of lack of pigmentation in pigmentation in nevinevi
Oculocutaneous Albinism 1Oculocutaneous Albinism 1
OCA 1 results from mutations in the tyrosinase gene OCA 1 results from mutations in the tyrosinase gene Affected pts are homozygous for the mutant gene or are Affected pts are homozygous for the mutant gene or are
compound heterozygotes for different mutations in the compound heterozygotes for different mutations in the tyrosinase genetyrosinase gene
ARAR Two forms: 1) OCA 1A & OCA 1B (indistinguishable at Two forms: 1) OCA 1A & OCA 1B (indistinguishable at
birth)birth) OCA 1 is most severe with complete absence of OCA 1 is most severe with complete absence of
tyrosinase activity and complete absence of melanin in tyrosinase activity and complete absence of melanin in the skin and eyesthe skin and eyes
Visual acuity is decreased to 20/400Visual acuity is decreased to 20/400 OVA 1B tyrosinase activity is reduced but not absent. Pts OVA 1B tyrosinase activity is reduced but not absent. Pts
may show increase in skin,hair, eye color with age and may show increase in skin,hair, eye color with age and can tancan tan
OCA 1OCA 1
OCA 1B was originally called “yellow OCA 1B was originally called “yellow mutant” albinismmutant” albinism
Temperature sensitive OCA (OCA 1-TS) Temperature sensitive OCA (OCA 1-TS) results from mutations in the tyrosinase results from mutations in the tyrosinase gene that produce an enzyme with limited gene that produce an enzyme with limited activity < 35 degrees C and no activity activity < 35 degrees C and no activity below this temp. pts have white hair, skin, below this temp. pts have white hair, skin, andeyes at birth, at puberty dark hair andeyes at birth, at puberty dark hair develops in cooler acral areasdevelops in cooler acral areas
Top:albinism with Top:albinism with white hair, pale skin, white hair, pale skin, and translucent iridesand translucent irides
Bottom:ophthalmoscoBottom:ophthalmoscopic view of a pt with pic view of a pt with albinism demonstrates albinism demonstrates a pale fundus, poor a pale fundus, poor macular development, macular development, and prominent and prominent choroidal vasculaturechoroidal vasculature
Oculocutaneous Albinism 2Oculocutaneous Albinism 2 Prevalence of 1:15,000Prevalence of 1:15,000 Pts were named “tyrosinase-positive” albinosPts were named “tyrosinase-positive” albinos AR and mutations occur in the P geneAR and mutations occur in the P gene P gene codes a membrane transport protein that is P gene codes a membrane transport protein that is
present in the melanosome membranepresent in the melanosome membrane Cutaneous phenotype of OCA 2 pts is broad, ranging Cutaneous phenotype of OCA 2 pts is broad, ranging
from nearly normal pigmentation to virtually no from nearly normal pigmentation to virtually no pigmentationpigmentation
Pigmentation increases with age, and visual acuity Pigmentation increases with age, and visual acuity improves with ageimproves with age
Prader-Willi and Angelman syndromes are caused by Prader-Willi and Angelman syndromes are caused by deletions in the P gene; 1% of pts with these deletions in the P gene; 1% of pts with these syndromes also have OCA 2syndromes also have OCA 2
Oculocutaneous Albinism 3Oculocutaneous Albinism 3
AR-caused by mutations in the tyrosine-AR-caused by mutations in the tyrosine-related protein 1 (TRP-1), located on related protein 1 (TRP-1), located on chromosome 9chromosome 9
OCA 3 has been described only in black OCA 3 has been described only in black pts and is characterized by light brown pts and is characterized by light brown hair, light brown skin, blue/brown irrides, hair, light brown skin, blue/brown irrides, nystagmus, and decreased visual activitynystagmus, and decreased visual activity
Brown rather than black melanin is formedBrown rather than black melanin is formed
Ocular AlbinismOcular Albinism
There are multiple forms of ocular albinismThere are multiple forms of ocular albinism OA 1 may be present with lighter than OA 1 may be present with lighter than
expected skinexpected skin It is X-linkedIt is X-linked Female carriers have “mud-splattered” Female carriers have “mud-splattered”
fundifundi Macromelanosomes are found in the skin, Macromelanosomes are found in the skin,
so skin bx may be a helpful toolso skin bx may be a helpful tool Many cases of AR ocular albinism have Many cases of AR ocular albinism have
been reclassified as OCA 1 or OCA 2been reclassified as OCA 1 or OCA 2
Syndromes Associated with Syndromes Associated with AlbinismAlbinism
Chediak-Higashsi SyndromeChediak-Higashsi Syndrome Hermansky-Pudlak SyndromeHermansky-Pudlak Syndrome Griscelli Syndrome(partial albinism Griscelli Syndrome(partial albinism
with immunodeficiency)with immunodeficiency) Elejalde SyndromeElejalde Syndrome Cross-McKusick-Breen SyndromeCross-McKusick-Breen Syndrome Cuna Moon ChildrenCuna Moon Children
Classification of Classification of Oculocutaneous AlbinismOculocutaneous Albinism
Selenium DeficiencySelenium Deficiency
Selenium deficiency in the setting of Selenium deficiency in the setting of total parental nutrition can lead to total parental nutrition can lead to pseudoalbinismpseudoalbinism
Skin and hair pigmentation return to Skin and hair pigmentation return to normal with supplementationnormal with supplementation
Waardenburg’s SyndromeWaardenburg’s Syndrome
Four genotypic variants Four genotypic variants exist:exist:
Types 1 & 3 are caused Types 1 & 3 are caused by mutations in the PAX by mutations in the PAX gene on chromosome 2gene on chromosome 2
Type 2 is caused by Type 2 is caused by mutations in the MITF mutations in the MITF gene on chromosome gene on chromosome 3, and type 4 due to 3, and type 4 due to mutations in the ENDRB mutations in the ENDRB gene on chromosome gene on chromosome 1313
Pts have features of Pts have features of piebaldism, with white piebaldism, with white forelock, forelock, hypopigmentation, hypopigmentation, premature graying, premature graying, synophrys, congenital synophrys, congenital deafness, a broad deafness, a broad nasal root, and ocular nasal root, and ocular changes including changes including heterochromia iridesheterochromia irides
Apparently, Apparently, melanoblasts fail to melanoblasts fail to reach the target sites reach the target sites during embryogenesisduring embryogenesis
PiebaldismPiebaldism Rare, AD with variable Rare, AD with variable
phenotype, presenting at phenotype, presenting at birthbirth
White forelock, patchy White forelock, patchy absence of skin pigmenationabsence of skin pigmenation
Depigmented lesions are Depigmented lesions are static and occur on the static and occur on the anterior and posteroir trunk, anterior and posteroir trunk, mid upper arm to wrist, mid-mid upper arm to wrist, mid-thigh to mid-calf, and shinsthigh to mid-calf, and shins
A characteristic feature is A characteristic feature is the presence of the presence of hyperpigmented macules hyperpigmented macules within the areas of lack of within the areas of lack of pigmentation and on normal pigmentation and on normal skinskin
PiebaldismPiebaldism
PiebaldismPiebaldism
Segmental white Segmental white patch on the neck patch on the neck with a tuft of white with a tuft of white hair present from hair present from birthbirth
PiebaldismPiebaldism
White forelock and White forelock and patch of patch of unpigmented skin unpigmented skin in a young girl with in a young girl with piebaldismpiebaldism
PiebladismPiebladism The white forelock arises from a triangular or The white forelock arises from a triangular or
diamond-shaped midline white macule on the diamond-shaped midline white macule on the frontal scalp or foreheadfrontal scalp or forehead
The medial portions of the eyebrows, and The medial portions of the eyebrows, and eyelashes may be whiteeyelashes may be white
Histologically, melanocytes are completely absent Histologically, melanocytes are completely absent in the white maculesin the white macules
Etiology is a mutation in the c-kit protooncogeneEtiology is a mutation in the c-kit protooncogene Phenotypic differences seen in families is caused Phenotypic differences seen in families is caused
by different locations of mutations in the geneby different locations of mutations in the gene The white lesions may respond to surgical The white lesions may respond to surgical
excisionexcision
Idiopathic Guttate Idiopathic Guttate HypomelanosisHypomelanosis
AKA leukopathica symmetrica progressivaAKA leukopathica symmetrica progressiva Very common aquired disorder affecting Very common aquired disorder affecting
women more frequently than menwomen more frequently than men Usually occurs after age 40Usually occurs after age 40 Lesions occur on the shins and forearms; are Lesions occur on the shins and forearms; are
small (6 or 8mm), rarely become very small (6 or 8mm), rarely become very numerous ( a dozen or two at most), and numerous ( a dozen or two at most), and never occur on the face or trunknever occur on the face or trunk
Lesions are irregularly shaped and very Lesions are irregularly shaped and very sharply defined, like depigmented ephelides, sharply defined, like depigmented ephelides, and are only of cosmetic significance and are only of cosmetic significance
Idiopathic Guttate Idiopathic Guttate HypomelanosisHypomelanosis