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P2101Trichothiodystrophy: A rare multisystem genetic disease with markedphenotypic diversity
Priya Mahindra, MD, SUNY Downstate Medical School, Brooklyn, NY, UnitedStates; Deborah Tamura, RN, MS, National Institutes of Health, Bethesda, MD,United States; John DiGiovanna, MD, Brown Medical School, Providence, RI,United States; Kenneth Kraemer, MD, National Institutes of Health, Bethesda,MD, United States; Salma Faghri, Brown Medical School, Providence, RI, UnitedStates
Trichothiodystrophy (TTD) is a rare, multisystem, autosomal recessive diseasecharacterized by defective DNA repair and sulfur-deficient, brittle hair. Weperformed a systematic examination of clinical features of TTD patients at theNational Institutes of Health to further identify the disease spectrum. Diagnosis wasconfirmed by the presence of tiger tail banding (an alternating pattern of light anddark bands) of hair under polarized microscopy in 100% of the patients. A total of 21patients from 17 families were studied with ages ranging from 1.6 to 29.5 years(median age, 10.3 yrs) at time of last physical examination. Major cutaneousabnormalities included brittle hair (90%), ichthyosis (67%), photosensitivity (57%),and nail defects (86%). The patients also had developmental delay/intellectualimpairment (95%), short stature (67%), and sensorineural hearing loss (19%).Abnormal magnetic resonance imaging findings (48%) included diffuse dysmyelina-tion (38%) and ventriculomegaly (19%). Hematologic abnormalities (95%) includedfeatures of b-thalassemia minor, with low mean cell volume (76%) and elevatedHbA2 (71%) without defects in the hemoglobin gene. Radiographs showed boneabnormalities (100%) including peripheral osteopenia (76%) and central osteoscle-rosis (43%). Recurrent infections (57%) required repeated hospitalizations.Abnormal characteristics present at birth (86%) included low birth weight (71%),congenital cataracts (43%), and collodion membrane (48%). Surprisingly, themothers of the patients with abnormal birth characteristics had frequent maternalpregnancy complications (86%), including in utero growth retardation (57%) andpreterm labor (48%). This suggests the potential role of DNA repair genes in fetalgrowth and development. Mutations in XPD, a gene involved in both DNA repair andbasal transcription, were seen in 11 TTD families. However, these patients do nothave the 1000-fold increased risk of sun-induced skin cancer as seen in xerodermapigmentosum patients, who have defects in these same genes. One TTD patientwith unknown mutation had skin cancer. TTD is a rare multisystem developmentaldisorder with wide phenotypic variability. While all patients exhibited hair abnor-malities and, except for one patient, developmental delay, those more severelyaffected had substantial neurologic, immunologic, and growth impairment. Theidentification of these diverse clinical features requires a multidisciplinary approachto diagnosis and management of TTD.
MARCH 2
cial support: None identified.
CommerP2102Alopecia areata of eyelashes: Regrowth after injecting triamcinolone intothe eyebrow area
Lidia Rudnicka, MD, Department of Dermatology, CSK MSWiA, Warsaw, Poland;Irena Walecka, MD, PhD, MBA, Department of Dermatology, CSK MSWiA,Warsaw, Poland; Malgorzata Olszewska, MD, PhD, Department of Dermatology,Warsaw Medical University, Warsaw, Poland; Monika Slowinska, MD, Departmentof Dermatology, CSK MSWiA, Warsaw, Poland
Isolated alopecia areata of the eyelashes and eyebrows is rare, but remains atherapeutic challenge. We describe two patients, in which regrowth of eyelasheswas observed after injecting triamcinolone into the eyebrow area. The first patient isa 32-year-old female with a history of alopecia areata treated previously effectivelywith cyclosporine A and a few month history of isolated loss of eyebrows andeyelashes. Clinical appearance and dermatoscopy were consistent with alopeciaareata of eyebrows and eyelashes. Topical treatment with corticosteroids andlatanoprost was not effective. Intralesional triamcinolone acetonide suspension 10mg per mL was injected with a 30-gauge needle into the eyebrow area. Four weeksafter the first injection session slow regrowth of eyebrows was observed. This wasaccompanied by regrowth of eyelashes. After another 2 weeks, intralesionaltriamcinolone acetonide injections were repeated. Continued 5-month observationshows no relapse of alopecia areata of either eyebrows or eyelashes. The secondpatient is an otherwise healthy, 23-year-old female, with patches of recalcitrant scalpalopecia areata, a 2-year history of sparse and periodically regrowing eyebrows andloss of eyelashes. The diagnosis of alopecia areata was established based on clinicalappearance, histopathology, and scalp, eyebrow, and eyelash dermatoscopy. Initially,only intradermal triamcinolone acetonide suspension injections into the eyebrowarea were applied. Six weeks after this treatment almost full regrowth of eyelasheswas observed. At this point, systemic cyclosporine A therapy for her scalp alopeciaareata was introduced. During a 12-week observation time, no relapse was observed.In conclusion, these cases show that intralesional triamcinolone, applied into theeyebrow area may influence eyelash regrowth in alopecia areata.
cial support: None identified.
Commer009
P2103Comparative evaluation of men’s depilatory products versus razor
Christian Oresajo, MD, L’Oreal Recherche, Clark, NJ, United States; ChesahnaKindred, Howard University, Washington, DC, United States; Margarita Yatskayer,L’Oreal Recherche, Clark, NJ, United States; Rebat Halder, Howard University,Washington, DC, United States
Shaving with razors is often problematic in sensitive skin, especially skin of AfricanAmericans. This method of shaving often leads to erythema and irritation. Moreover,African American men are prone to pseudofolliculitis barbae (PFB), a common anddistressing disorder in which growing hair shaft curve back into the skin, producinga foreign body inflammatory reaction. Depilatory creams chemically remove hairfrom the skin surface. The active ingredients of depilatory creams are chemicals thatdissolve the keratin of hair. This controlled, single-center, split-faced, randomizedtrial was undertaken to compare shaving with two different depilatory products(product A, containing calcium hydroxide, guanidine carbonate, and calciumthioglycolate; and product B, containing calcium hydroxide, lithium hydroxide,and thioglycolic acid) to shaving with a razor on 45 African Americans malevolunteers, 18 years of age or older, with skin prone to razors bumps. They were allcurrent or previous users of depilatory cream. The volunteers underwent asensitivity test and only qualified volunteers were enrolled into the study. Thevolunteers were required to shave at home with their normal method 2 days beforethe first visit. At the first visit, a dermatologist performed a preshave evaluation toassess irritation, skin roughness, and lesion count. Volunteers were asked to shaveone half of the face with the provided razor and shaving cream and the other sidewith one of the depilatory creams (according to randomization). Immediately aftershaving, a dermatologist performed the postshave evaluation by reassessing forirritation and efficacy, photographing both sides of the face, and counting lesions.The participant returned 2 and 4 days later and repeated the shaving technique. Ateach visit, a dermatologist repeated evaluation as described at the first visit.Volunteers completed a self-assessment questionnaire at each study visit. In thisshort study, the results indicate that there were fewer papules that developed on thedepilatory-treated side compared to the razor shaved side in most subjects who usedeither of two products. While both depilatory products produced more irritationimmediately after use and to a greater extent than the razor, the irritation wastransient, and more often subjective than objective. The result of using eitherdepilatory product was that the skin looked and felt smoother than shaving with arazor. Product A generated more irritant contact dermatitis than product B. All casesof irritant contact dermatitis resolved in 2 to 5 days without scarring ordyspigmentation.
cial support: 100% sponsored by L’Oreal.
CommerP2104A comparison of vertical versus transverse sections for the histopatho-logic diagnosis of alopecias
Ozlem Ozen, PhD, Baskent University Faculty of Medicine Department ofPathology, Ankara, Turkey; Deniz Seckin, MD, Baskent University Faculty ofMedicine Department of Dermatology, Ankara, Turkey; Deren Ozcan, MD, BaskentUniversity Faculty of Medicine Department of Dermatology, Ankara, Turkey
Background: Both vertical and transverse sections have advantages and disadvan-tages in the histopathologic diagnosis of alopecia; however, combining the twomethods increases the diagnostic yield. If only a single biopsy specimen can beobtained, it is important to know which method is superior to the other in order todecide whether to section it vertically or transversely.
Objective: In this study, we aimed to define the histopathologic findings of cicatricialand noncicatricial alopecias in transverse and vertical sections of punch biopsyspecimens, and compare the diagnostic value of both methods.
Methods: The study included 53 patients with the complaint of hair loss. All thepatients were given a clinical diagnosis after the detailed clinical history anddermatologic examination. In each patient, two 4-mm punch biopsies were takenfrom the alopecic lesions. While one of the biopsy specimens was sectionedtransversely, the other was used for vertical sections and direct immunofluores-cence examination. The findings of clinical diagnosis, the histopathologic findings ofboth transverse and vertical sections, and direct immunofluorescence examinationwere evaluated together, and the most probable diagnosis for each patient was madeby the same dermatologist. The same pathologist evaluated the transverse sectionsand the vertical sections separately and the diagnosis reached with either methodwas compared with the most probable diagnosis.
Results: The histopathologic findings in the epidermis, dermoepidermal junction,and dermis were only observed in vertical sections, whereas the quantitative data ofthe hair follicles were evaluated more accurately in transverse sections. Transversesections were seemed to be superior to vertical sections for noncicatricial alopecias(P ¼ .05). In contrast, vertical sections were superior to transverse sections inpatients with lichen planopilaris (P ¼ .04). No statistical difference was foundbetween the diagnostic values of two methods in other types of cicatricial alopecias(P [.05).
Conclusions: For the histopathologic diagnosis of subtypes of alopecia, if a singlebiopsy specimen is obtained, transverse sections should be preferred in non-cicatricial alopecias. In patients whose clinical findings are consistent with lichenplanopilaris, vertical sections should be evaluated, whereas either transverse orvertical sections can be performed in cicatricial alopecias other than lichenplanopilaris.
cial support: None identified.
CommerJ AM ACAD DERMATOL AB99