P7136Diagnosis and treatment of congenital erythropoietic porphyria: A casestudy

Carmen Martinez Peinado, Dermatology Department, Granada, Spain; CarmenHerrero, Dermatology Department, Barcelona, Spain; Cristina Diaz, PediatricHematology and Oncology Department, Barcelona, Spain; Elisa Morales,Dermatology Department, Granada, Spain; Jesus Tercedor, DermatologyDepartment, Granada, Spain; Jordi To Figueras, Biochemistry and MolecularGenetics Department, Barcelona, Spain; Paloma Nogueras, DermatologyDepartment, Granada, Spain

Background: Congenital erythropoietic porphyria or G€unther disease is a rare andsevere disorder of heme biosynthesis caused by an autosomal recessive congenitaldeficiency of the enzyme uroporphyrinogen III synthase. The accumulation ofisomer I porphyrins in erythrocytes, plasma, skin and bones, leads to the clinicalmanifestations. This disease is characterized by extreme photosensitivity, whichcauses scarring andmutilation associated with haemolysis and others symptoms thatdetermine a short life expectancy. There are different UROS gene mutations thatcorrelate with the phenotype of the disease. Treatment is preventive and sympto-matic; only transplantation of haematopoietic precursors is considered curative insevere cases.

Case report: We report a case of a 4-month-old patient diagnosed with severeG€unther disease, who underwent successfully allogeneic bone marrow transplan-tation at 8 months and he remains asymptomatic after 1 year. We have reviewed inliterature all published cases that received haematopoietic stem cell transplantation(HSCT) for this disease.

Conclusion: PEC is a rare and potentially devastating disease in which the diagnosisin the neonatal period may be difficult and it should be emphasized the importanceof the dermatologist’s assessment, along with other specialists. There is a closerelationship between genotype and phenotype, which will be useful to decide thebest treatment for each patient including early stem cell transplantation for severecases to avoid complications. In this way, hematopoietic precursor’s transplantationshould be strongly considered because this is the only known curative therapy. Butthis option also carries a high morbidity and mortality, requiring careful selection ofpatients.

APRIL 20

cial support: None identified.

Commer

P6478Eccrine nevus: Case report in a child

Janet Dua, MBBS, Amersham Hospital, Buckinghamshire, United Kingdom;Sophie Grabczynska, MBBS, Amersham Hospital, Buckinghamshire, UnitedKingdom

An eccrine nevus is an extremely rare lesion, of which there have been nomore than20 reports worldwide in the literature. It is characterized by an increase in thenumber and/or size of eccrine glands, and can cause localised hyperhidrosis. Mostpresent in childhood and adolescence, predominately affecting the forearms. Wereport an 11-year-old girl who presented with an 8-month history of profusesweating affecting an isolated area on her right lower forearm. The sweatingoccurred approximately nine times a day, typically lasting 15 minutes. Attacks arosespontaneously, and were not provoked by emotion, exertion or temperature. Sheoften woke up during the night with her bedsheets soaked around this area. Thedripping sweat also affected her ability to do homework and she felt embarrassed byit. She had no significant medical history, and did not recall any previous trauma tothis region. Symptoms were not relieved with topical aluminium chloride antiper-spirant. On examination she had an area of hyperhidrosis measuring 12 cm3 8 cm,which was confirmed on a starch and iodine test. The overlying skin appearednormal. A punch biopsy of the affected area revealed a proliferation of eccrine sweatducts characterized by an increase in the size and number of eccrine coils,suggestive of an eccrine nevus. A punch biopsy taken from an adjacent area ofunaffected skin was unremarkable. The clinical manifestations of eccrine nevus arewidely variable. They can present as an area of localised hyperhidrosis withoutoverlying cutaneous changes, or with slight hyperpigmentation, papules, nodules,plaques, depressed brownish patches, and a solitary pore. Treatment can be achallenge. Initial therapy includes topical aluminium chloride or anticholinergicmedications. There have been case reports of treatment with botulinum toxin and ifsevere, surgical excisionmay be a consideration. Our patient is currently undergoinga course of iontophoresis. This case report highlights a rare and potentiallydistressing cause of localized hyperhidrosis.

cial support: None identified.

Commer

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P6604Extensive milia in a neonate with congenital malformations: Oral-facial-digital syndrome type 1

Minh Lam, MBBCh, Queen’s Medical Center, Nottingham, United Kingdom; AnnaWilsdon, MBBS, Department of Clinical Genetics, Nottingham, United Kingdom;Esther Burden Teh, MBBS, Queen;s Medical Center, Nottingham, UnitedKingdom; Jane Ravenscroft, MBBS, Queen;s Medical Center, Nottingham,United Kingdom

Case report: A 14-week-old girl was referred with progressive, extensive miliapredominantly affecting the face and scalp. She was also noted to have a cleft of thesoft palate at birth. Her parents were nonconsanguineous and there was nosignificant family history. On examination she had multiple pearly white papulesconsistent with milia distributed predominantly on the face and scalp, but therewere also scattered milia on the trunk and limbs. She had mild hypertelorism, a cleftof the soft palate, accessory gingival frenulae and alveolar clefts. There were noabnormalities of the hands or feet and there were no developmental concerns.Ophthalmologic assessment revealed mild hypermetropia and her karyotype was46, XX. The presence of milia in association with accessory oral frenulae and a cleftpalate are highly suggestive of oral-facial-digital syndrome type 1 (OFD1). Molecularanalysis of OFD1 is pending.

Discussion: Milia are keratin filled epidermal cysts present in up to 50% of neonates.Although very common, persistent or extensive milia should raise the possibility of anumber of underlying genetic disorders including OFD1, Gorlin syndrome, epider-molysis bullosa, Marie Unna hypotrichosis, Basan syndrome, and X-linked Bazex-Dupr�e-Christol disease. Oral-facial-digital (OFD) syndromes are a group of relatedconditions that affect the development of the oral cavity, digits and other organsincluding the brain and kidneys. Current classification includes 11 variants of OFD,with type 1 being the most common. Estimated prevalence of OFD1 is 1 in 50,000 to1 in 250,000. OFD1 (OMIM #311200) is an X-linked dominant disorder that is usuallylethal in males. OFD1 maps to Xp22.3-p22.2. The presence of milia and hypotri-chosis makes this subtype of relevance to dermatologists and helps distinguish thisvariant from other types of OFD, which lack skin and hair findings. Intellectualdisability is seen in 50% of individuals with OFD1 and a similar proportion developpolycystic kidney disease after adolescence.

cial support: None identified.

Commer

P6912Generalized vesicular skin lesions presented at birth in a newborn

Paula Davila-Seijo, MD, Dermatology Department of Complexo Hospitalario dePontevedra, Pontevedra, Spain; Angeles Florez-Menendez, PhD, DermatologyDepartment of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; CarlosDe la Torre, PhD, Dermatology Department of Complexo Hospitalario dePontevedra, Pontevedra, Spain; Javier Vilas-Gonzalez, MD, PediatricDepartment of Complexo Hospitalario de Pontevedra, Pontevedra, Spain

Background: Congenital cutaneous candidiasis (CCC) is a rare disease that resultsfrom infection from Candida spp. acquired in utero.

Case report: A full-term, 3350-g male infant was delivered by cesarean section to 29-year-old healthy woman because of fetal distress. Vaginal candidiasis, diagnosed byculture, was managed with topical therapy during the first trimester of pregnancy.No history of membranes rupture before deliver was recorded. The child presentedat birth with generalized erythematous maculopapular and vesicular skin lesionsover the face, trunk, and extremities, including palms and soles. The scalp andmucous membranes were spared. The remainder of the physical examination wasnormal. His white blood cell count was 26,000/mm3 with 71% polymorphonuclearcells, 19% lymphocytes, and 6% eosinophils. Cerebral and abdominal ecographywere normal. Cultures of the blood, urine, and spinal fluid were normal. Culture ofvesicle exudate was positive to Candida albicans. Skin biopsy revealed intra-epidermic pustule dermatitis. Funguses within stratum corneumwere showed withperiodic acideSchiff stain. Topical ketoconazol was started with progressiveresolution of lesions. He was discharged from the hospital on the ninth day of lifewithout sequelae.

Discussion: The CCC is though to appear by the ascension of organism from candidalvulvovaginitis during pregnancy. CCC can produce a clinical spectrum of diseaseranging from a cutaneos skin eruption without systemic involvement to a severesystemic disease with a potential risk of neonatal death. Risk factors to CCC arehistory of maternal candidal vulvogaginitis, intrauterine foreign body, prematurityand low birth weight\1000 g. Premature low birth weight infants show higher riskof systemic involvement. Themost common cutaneous presentation is a generalizederuption of erythematous macules, papules, vesicles and pustules that appearswithin the first six days of birth. Palms and soles are usually affected. Isolated naildystrophy has also been documented. CCC is diagnosed by the evidence of fungusstructures in the skin scrapings and skin biopsy and the positive cultures fromlesions. Topical fungal therapy may be used in isolated skin involvement butsystemic therapy should be used if systemic disease is suspected. We present a newcase of this rare entity with lesions present at birth, in which the only identifiablerisk factor, maternal vaginal candidiasis, was diagnosed and treated at the firsttrimester.

cial support: None identified.

Commer

J AM ACAD DERMATOL AB173