P2009Tuberous sclerosis: Clinical findings in 57 patients

Pedro Jaen Olasolo, DO, Hospital Universitario Ramon y Cajal, Madrid, Spain; MarıaJose Anaya, MD, Hospital Universitario Ramon y Cajal, Madrid, Spain; MontserratFernandez-Guarino, PhD, Hospital Universitario Ramon y Cajal, Madrid, Spain;Pablo Boixeda, PhD, Hospital Universitario Ramon y Cajal, Madrid, Spain

Introduction: Tuberous sclerosis (TE) is an infrequent neurocutaneous syndromecharacterized by the presence of multiple hamartomas. The diagnosis of TE is basedin clinical criteria.

Objective: Describe the clinical findings in a series of 57 patients with TE.

Methods: We carried out a retrospective, descriptive, and observational studybetween January 1994 and March 2007. We described the clinical findings in thegroup of patient.

Results: One hundred percent of the patients had neurologic or dermatologicalterations. The rest, were, in order: psychiatric (55.5%), kidney alterations (32.8%),heart alterations (22.4%), squeletical and lung alterations (13.4%), and opthalmo-logic alterations (11.9%). We describe the type of alteration found in each category.The dermatologic findings were described and classified in groups according to theirtype and their location.

Conclusions: We described the clinical findings in a series of 57 patients affected ofTE. According to the literature reviewed, this is the first study done in a Spanishpopulation. Globally, our data support previously published data.

AB98

cial support: None identified.

Commer

P2010Dominant dystrophic epidermolysis bullosa: Seven familial cases

Francisca Regina Oliveira Carneiro, University of State of Para, Belem, Brazil;Bruna Maria Cruz Crescente, University of State of Para, Belem, Brazil; RenataSilva Barros, University of State of Para, Belem, Brazil

Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disordersassociated with blisters, erosions, and chronic wounds in response to mechanicaltrauma of varying degrees. The disease is traditionally classified into three groupsaccording to the level of cleavage within the skin: EB simplex, junctional EB, anddystrophic EB. We report seven cases of dominant dystrophic EB in the same family.The patients were submitted to dermatologic examination in addition to the family’spedigree; to confirm the clinically suspected EB subtype, antigen mapping wasperformed.

Case 1 is a 60-year-old male who has had blisters since he was born. He is the fatherof family, and he noted that his three brothers had the same lesions. Case 2 is a 20-year-old male who complained of blisters on the knee, legs with itch, and dystrophicnails since he was born. Case 3 is a 26-year-old male presenting with blisters,especially on his legs, and dystrophic nails. The lesions have occurred since birth.Case 4 is a 28-year-old female who complained that after her birth and during herchildhood she had blisters especially on her trunk, arms, knees, and legs. During thepregnancies of her first and second sons, the lesions became worse and many newlesions had appeared. Case 5 is a 30-year-old female; lesions appeared 3 or 5 daysafter her birthday always with milia and itch. Case 6, a 32-year-old female, has hadblisters since her first days of life. Now the lesions occur especially on legs. Case 7 isa 22-year-old female who has presented with blisters since her second week of life,initially on her legs and feet. She referred itch and presence of milia and dystrophicnails. All patients were submitted to a punch biopsy and histopathologic examrevealed a subepidermic cleavage and the antigen mapping demonstrated aspectswhich made the diagnosis of dystrophic EB possible.

cial support: None identified.

Commer

J AM ACAD DERMATOL

P2011Klinefelter syndrome and chronic leg ulcers

Chad Johnston, West Virginia University, Morgantown, WV, United States; GarrettBohrnstedt, MS, West Virginia School of Osteopathic Medicine, Lewisburg, WV,United States; Roxann Powers, MD, West Virginia University, Morgantown, WV,United States

A 56-year-old white male presented to our clinic complaining of a nonhealing 4-cmulcer on the left lower extremity for approximately 12 months’ duration.Histopathology showed stasis angiomatosis and cultures positive for coagulase-negative Staphylococcus aureus and Enterobacter cloacae. Previous treatmentsincluded wet to dry dressings, oral antibiotics (doxycycline and trimethaprim/sulfa-methoxazole), aspirin, pentoxifylline, and hyperbaric oxygen. Despite treatment,the patient’s leg ulcer showed little, if any improvement.

The patient’s medical history included hyperlipidemia, depression, and osteoarthri-tis treated with naproxen. The patient is not married and works on a strawberryfarm. He denies smoking or familial coagulative disorders and he reports no sexualdysfunction. Further physical examination reveals a eunuchoid body habitus, scantfacial and body hair, scattered varicosities of the lower extremities, and small, firmtesticles. Pertinent laboratory examination revealed low testosterone 160 ng/dL(normal, 241-827), an elevated follicle stimulating hormone (FSH) 63.1 mIU/ml(normal, 1.1-18.1) ,and luteinizing hormone (LH) 26 mIU/ml (normal, 1.5-9.3). Thediagnosis of Klinefelter syndrome was suspected and the patient was sent forchromosome analysis and found to have karyotype of 47, XXY. With Klinefeltersyndrome confirmed, treatment was initiated with testosterone 125 mg viasubcutaneous injection every third week.

cial support: None identified.

Commer

HAIR AND NAIL DISORDERS

P2100Numerous faces of yellow dots

Adriana Rakowska, PhD, Department of Dermatology, CSK MSWiA, Warsaw,Poland; Elzbieta Kowalska-Oledzka, Department of Dermatology, CSK MSWiA,Warsaw, Poland; Lidia Rudnicka, Department of Dermatology, CSK MSWiA,Warsaw, Poland; Malgorzata Olszewska, Department of Dermatology, WarsawMedical University, Warsaw, Poland

Yellow dots constitute dermatoscopic features which can be observed in differenttypes of effluvium. Images of yellow dots observed in different types of effluviumwere subject to morphologic analysis. In the case of alopecia areata, yellow dots inold inactive lesions (n¼ 44) were identified as homogenous, light-yellow structures.With regard to the active lesions (n¼ 55), the remnants of dystrophic hair bearing aclose resemblance to pepper grains could be observed within the yellow dots. In theabove mentioned cases, the yellow dots usually had double margins. An enormousdiversity of yellow dots was observed in androgenic alopecia (n¼ 167) starting fromthe light-yellow to dark-brown in color. In more than half of the cases, the dots haddouble margins. The highest number of yellow dots in patients with femaleandrogenetic alopecia was noted in the frontal area (8.86 6 4.8/4 fields of vision at70-fold magnification). The corresponding number in the occipital area was 1.59 62.0. In different forms of cicatrical alopecia yellow dots were observed in discoidlupus erythematosus (DLE; n ¼ 11) and in folliculitis capitis abscedens andsuphodiens (n ¼ 3). In the active lesions of DLE, the yellow dots were large (withthe dot diameter twice as big as in the aforementioned cases), while the inactivelesions contained arborising vessels and were therefore reminiscent of a red spidercontained inside a yellow dot. In folliculitis capitis abscedens and suphodiens, theyellow dots were of three-dimensional structure and resembled yellow soap bubblewith pepper grains inside. In conclusion, yellow dots constitute dermatoscopicfeatures, which can be observed in different types of effluvium and take many aform. In some cases, the appearance of yellow dots will provide the key toestablishing a correct diagnosis.

cial support: None identified.

Commer

MARCH 2009