Pediatric Dermatology

P502OCULOTRICHODYSPLASIA(OTD)Khalid A Al Aboud, MD, Dermatology Department, King Faisal Hospital, Taif, Saudi Arabia,Makkah, Saudi Arabia, Khalid Al Hawsawi, MD, Dermatology Department, King FaisalHospital, Taif, Saudi Arabia, Makkah, Saudi Arabia, Dermatology Department, King FaisalHospital, Taif, Saudi Arabia, Makkah, Saudi Arabia

The term ectodermal dysplasia by definition is limited to these disorders with primarydefect in hair (1), teeth (2), nail (3) and sweat glands (4). It is classified according toFreire-Maia and Pinheiro into 2 groups. Group A in which the defect is in at least 2 of theepidermal appendages plus or minus other malformations. Group B in which the defectis in at least one classical epidermal appendages plus at least another ectodermal (5)defect, e.g mammary gland, subcutaneous glands, central nervous system, peripheralnerves, and sensory epithelium of the eye, ears and pituitary gland. In group A, there are11 sub groups, as following 1-2, 1-3, 1-4, 2-3, 2-4, . . .etc. In group B, there are 4 subgroups, as following, 1-5, 2-5, 3-5 and 4-5. Till now there are more than 170 syndromesof ectodermal dysplasias.

Oculotrichdysplasia (OTD) is an extremely rare autosomal recessive ectodermal dysplasia.It is classified in group A (sub type 1-2-3) ectodermal dysplasia. We report an 11-year-oldboy who presented with history of total absence of scalp hair since birth. No history ofabsent sweating. He is known to have retinitis pigmentosa, glucoma and catarct. Exam-ination revealed dysmorphic facial features, absence of scalp hair, eyelashes, and eye-brows, nail dystophy and anodentia

Disclosure not available at press time.

P503TOPICAL VITAMIN E SOLUTION VERSUS PLACEBO IN THE TREATMENT OF YEL-LOW NAIL SYNDROME: A RANDOMIZED DOUBLE-BLIND STUDYEmily M Lambert, BS, Yale University School of Medicine, New Haven, CT, United States,Richard Antaya, MD, Yale University School of Medicine, New Haven, CT, United States

Yellow nail syndrome (YNS) is a rare disorder characterized by disfigured nails, primarylymphedema and respiratory disease. The nails of patients with YNS are markedly thick,hyperconvex, discolored and slow-growing. The pathology of these abnormal appearingnails is not known although the gene responsible for YNS was cloned in 2001.

Approximately 100 cases have been reported in the literature, mostly in adults in asporadic manner, with children rarely afflicted. Yellow nails have also been reported inthyroid disease, nephrotic syndrome, rheumatoid arthritis, immunoglobin A (IgA) defi-ciency, Milroy’s disease (congenital lymphedema) and mental retardation. There is not anestablished therapy for yellow nails. Most reported treatments for YNS are either anec-dotal or derived from very small groups of patients. Therapeutic discovery has beenfurther hindered by spontaneous resolution of yellow nails in up to 30 percent ofpatients. Since 1973 there have been sporadic reports touting the beneficial effect ofvitamin E, both systemically (orally) and topically in solution, for the treatment of YNS.

The mechanism of vitamin E therapy is speculative. Lipofuscin pigments may be thesource of yellowish color in YNS nails. Lipofuscin pigments are derived from colorlesslipid precursors, which undergo oxidation in tissue to produce varying degrees of yellow.Because vitamin E has proven antioxidant properties in vitro and is believed to act as anantioxidant in vivo, protecting cell membranes from free-radical-mediated oxidativedamage, it may block the production of lipofuscin pigment. In addition, free-radicalreactions are also capable of causing DNA and protein damage, which may result inabnormal keratinization and hinder growth of affected nails. The purpose of this study isto determine if tocopherol acetate (vitamin E) topically applied to the nail plates andperiungual skin will have any effect on the growth rate or appearance of the nails inpatients with congenital YNS. This randomized, placebo-controlled trial is the largest todate for this rare disease.

This study involves three children (siblings) with YNS. Treatment is being given in arandomized, double-blinded manner over 6 months. Patients will be followed for anadditional 6 months with all nails receiving vitamin E. Clinical evaluations will beperformed at baseline, and at 0, 2, 4 and 6 months. The efficacy measures include clinicaland photographic evaluation. This study is ongoing.

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P504CHILBLAIN LUPUS IN A CHILDJose Suarez, MD, Section of Dermatology. Hospital Nuestra Senora de Candelaria, SantaCruz de Tenerife, Spain, Fernandez de Misa Ricardo, MD, PhD, Section of Dermatology.Hospital Nuestra Senora de Candelaria, Santa Cruz de Tenerife, Spain, Perera Antonio,MD, Department of Pathology. Hospital Nuestra Senora de Candelaria, Santa Cruz deTenerife, Spain, Feliciano Laura, MD, Section of Dermatology. Hospital Nuestra Senora deCandelaria, Santa Cruz de Tenerife, Spain

Introduction: Chilblain lupus is a rare variant of lupus erythematosus (LE) first describedby Hutchinson in 1888, and characterized by cold induced acrolocated skin lesionsresembling chilblains.

Case report: A 12-year-old female, with growth hormone deficiency under substitutivetherapy, was submitted to our Hospital presenting erythematous and hyperkeratoticplaques with fissures and atrophic areas in hands and fingers, erythematous and scalyplaques in her thighs, buttocks and knees; and a violaceous hue affecting her nose, cheek,chin and ears; and Raynaud’s phenomenon. Skin lesions were painful instead of prurig-inous, appearing during the winter after exposure to cold, and resistant to topical steroidtherapy. The lesions disappear spontaneously and totally, with no treatment, when thesummer comes. She has been suffering from this condition since her first year of life.

A biopsy specimen revealed finding consistent with LE. Direct immunoflorescency wasnegative both in lesional and healthy skin.

Strikingly, she presented titles of antinuclear antibodies of 1/40 in summer (with nolesions) and of 1/640 in winter (with skin lesions). No other sign or symptom of LE waspresent, and a comprehensive study yielded normal or negative results, except by totalserum IgE levels of 969 UI/mL (normal � 100).

We prescribed chloroquine and avoiding exposure to cold but the response was difficultto assess since spontaneous recovery usually appear in similar dates. Next winter we areconsidering a trial with topical tacrolimus whose result should be available at the meetingdates.

Discussion: We report the clinical and histopathological findings of a child with defi-ciency of human growth hormone and extensive chilblain lupus lesions. Our patient isexceptional due to the age of presentation (1 year), intensity and extension of her skindisease. As a matter of fact, we have not found any similar case in the medical literature.

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P505A SERIES OF CLINICALLY ATYPICAL NAEVI IN CHILDRENRebecca J Batchelor, MBChB, The Leeds Centre for Dermatology, Leeds, England, DrSheila M Clark, MBChB, The Leeds Centre for Dermatology, Leeds, England

Atypical naevi are a risk factor for development of melanoma and, though rare in children,it is important to identify them1. It is often difficult to determine those which maybecome malignant, and a history of change in the naevi or family history of dysplasticnaevi/melanoma must also be taken into account when considering management2. Wereport a series of 5 children who presented with clinically atypical naevi to our paediatricdermatology clinic and went on to have excision biopsy. We include the original clinicalphotograph of the lesions and the histology. We demonstrate the clinical heterogeneityof atypical naevi and therefore, the difficulty in identifying those most at risk of malignantchange in children.

References

1. Marghoob AA. The dangers of atypical mole (dysplastic nevus) syndrome. Teachingat-risk patients to protect themselves from melanoma. Postgrad Med. 1999 Jun;105(7):147-8, 151-2, 154

2. Haley JC, Hood AF, Chuang TY, Rasmussen. The frequency of histologically dysplasticnevi in 199 pediatric patients. Pediatr Dermatol. 2000 Jul-Aug; 17(4):266-9

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P130 J AM ACAD DERMATOL MARCH 2004