P251 Kindler syndrome: Case report

s210

Posters

Conclusions: The potent corticosteroid FP is effective and safe in treatment of children with moderate severe AD. Our results indicate the need for (intermittent) long-term treatment of these children. Once daily FP could be of value in such a treatment. ElP247 A case of a neurologic variant of epidermal

nevus syndrome with hemimegaloencephaly, facial hemihypertrophy of Utah

School

of Medicine,

of Dermatology, Salt Lake City, UT, USA

The epidermal nevus syndrome is a neurocutaneous disorder in which epidennal nevi are associated with congenital anomalies involving the brain and other systems. Many different subtypes have been described and its classification is still evolving. We present this case of a l-year-old female with hemimegaloencephaly, a facial lipoma and facial hemihypertrophy in association with an ipsilateral epidermal nevus. To our knowledge this is the 3rd case reported in which this constellation of findings have been reported together and by presenting this case we hope to strengthen the association between lipomas and the other findings in this syndrome. I P248 Rare dermatoses in children of the Urals N.P. Toropova ’ , N.V. Kungurov 2. ‘Medical Centre, Ekaterinburg; 2Research Institute Immunopafhology, Ekaterinburg,

of Dermatology Russia

and

A follow-up of children with chronic and rare dermatoses was carried out at the Research Institute during several decades. Comprehensive examination and complex therapy was given to the patients with the following dermatoses: - dyskeratosis congenita (Linsser-Engmann-Cole syndrome): 2 patients, 25-year follow-up; - graft-versus-host reaction: 1 girl, a 22-year follow-up; - acrodetmatitis enteropathica: 2 patients, a 15-year follow-up; - Sulzberger-Bloh disease (Asboe-Hansen dermatitis): 3 patients, a 18- to 21-year follow-up; - mastocytosis: 11 patients, a 2- to 15-year follow-up; - epidermolysis bullosa: 7 patients, a 5- to 30-year follow-up; - dermatitis herpetifonnis: 5 patients, a lo- to 30-year follow-up; - bullous pemphigoid: 1 patient, a lo-year follow-up; - Gianotti-Crosti syndrome: 4 children, a l- to 2-year follow-up; - hyperlipemic xanthomatosis: 2 children, a 5-year up. ElP249 Giant congenital nevomelanocytic nevus A.T. Bogavac, M. LazoviC, M. BjekiC, G. Isailovic. City Department Yugoslavia

for

skin and venereal

brown-colored lesion, and scattered through the lesion are darker-colored areas. there are also a large number of similar but much smaller lesions present on parts of the trunk, extremities and scalp. Patients with giant CNN are at a significantly increased risk for the development of malignant melanoma, and should be kept under continuous surveillance for the development of cutaneous as well as noncutaneous primary malignant melanoma.

facial lipoma and

C.A. Egan, S.L. Vanderhooft. Department University

- Paediatric

diseases,

Belgrade,

Congenital nevomelanocytic nevi ICNNI are pigmented lesions of the skin usually present birth. A lo-year-old girl was born with giant CNN on lower parts of the back, abdomen, buttocks and thighs is an extensive,

ElP250 Xeroderma pigmentosum J.G. Alvarez-Femandez, A. Avellaneda’ , J.L. L6pez-Estebaranz, L. Iglesias. Dermatology Hospital “12 de Octubre”; UAM, Madrid, Spain

’ Centro

National

Department, de Biotecnologia,

Xeroderma Pigmentosum is a rare genodermatoses (one case per million) inherited as autosomal recessive trait. In the initial normal skin, the ultraviolet (UV) radiation induce photodamage in the target molecule, DNA, and genetic defects in the repair pathways resulting in skin cancers of all types, specially melanoma and squamous cell carcinoma. In our clinical review, all of the patients had melanomas and had a better prognosis than a “normal patient” with melanoma. Recent observations discuss a very high frequency of p16 delections and mutations in many tumour cell lines. This supports that p16 has a pivotal role in inhibiting the development of several human cancers. The p16 gene is located in chromosome 9p21, a region that is frequently involved in deletions and rearrangements in dysplastic nevi, cutaneous malignant melanoma, and has also been linked to familial melanoma. Too, it shown to be involved in a constitutional deletion in a patient with multiple primary melanoma. The primordial objective of this research is based on the analysis of the possible germline mutations in different patients with XP. Genomic sequence for the regions flanking exons l-3 are analysed by PCR technique with the appropriate primer and the products obtained are sequenced using the forward and reverse Taq-dye primer sequencing kits for automatic terminator sequencing. I P251 Kindler syndrome: Case report T. Uygur Derin, T. Mansur, S. Giindtiz. Haydarpasa Hospital,

Istanbul,

Numune

Turkey

Kindler syndrome is a rare chronic blistering disorder in which trauma induced blisters occur in early infancy and the tendency of blistering decreases with age. The blisters are primarily acral. Poikilodermatous skin changes are usually evident by age 5 and persist throughout life. Diffuse cutaneous atrophy is the other usual feature of this syndrome. Other less constant findings of this syndrome are hyperkeratosis of palms and soles, mucosal involvement in the form of urethral, anal or esophageal stenosis, nail distrophy and webbing of fingers and toes. In this report, a 50 year-old man with poikilodetmia, diffuse cutaneous atrophy, bilateral ectropion and webbing of fingers is presented. His parents were consanguinous and disease-free, his daughter and grand-child are also normal. The patient describes blister formation in his childhood and adolescence.

Posters -

s211

Photobiology

Photobiology

We discuss, through a review of the literature, the clinical features and diagnosis of this rare syndrome. I P252 Visualization of transglutaminase deficiency in lamellar ichthyosis

1

M. Rhagunath ’ , F. Velten ‘,‘, H.Ch. Hennies3, A. Reis3, PM. Steinert4, H. Traupe’ . ‘Department of Dermatology, Miinster; 31nst. of Human Genetics, Virchow Hospital, Berlin, Germany, 2Lab mixte, Jouy-en Josa, France, USA

INRA-CEA de radiobiologie 4L.ab. of Skin Biology, NIH,

appliquee Bethesda,

I P253 Proteus syndrome: A case report S. Gtindtiz, T. Uygur Derin, T. Mansur, M. Gorgec. Numune

prevents photo-provocation - Induced polymorphous light eruption (PLE) and keratinocyte (KC) ICAM- expression H. Stege’, C. Ahrens’, C. Billmann-Eberwein’, T. Ruzicka’, A. Rougier2, J. Krutmann ’ ‘Department of Dermatology, University of DusseldorJ; Germany, 2L.a Roche-Posay Pharmaceutical

In some families autosomal recessive lamellar ichthyosis (ARLI) could be shown to be due to a deficiency of transglutaminase I which resides on the long arm of chromosome 14, while in other families a disease locus on chromosome 2q 33-35 could be identified. For genetic counselling and in view of future corrective gene therapy a biochemical characterization of individual patients with lamellar ichthyosis is therefore desirable. However, currently the biochemical assay is tedious and dependent on the successful cultivation of ARLI keratinocytes. We therefore developed a histochemical assay that allows to visualize activity and spatial expression of transglutaminase 1 in skin using covalent incorporation of biotinylated donor substrates such as biotinyl-monodansylcadaverine. Among 15 patients with lamellar ichthyosis studied we found four with deficient transglutaminase 1 activity. Molecular studies confirmed only in these four patients respective mutations of transglutaminase 1. We conclude that a considerable proportion of patients with lamellar ichthyosis have a normal transglutaminase 1 activity.

Haydarpaga

Pretreatment of human skin with a I P254 sunscreen or dihydroxy-acetone (DHA)

Hospital,

Istanbul,

Turkey

The term “Proteus syndrome” was first used in 1983 to describe a disorder of skeletal hamartomatous and other mesodennal malformations. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidetmal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses and scoliosis. In this report, we present a case of Proteus syndrome in a 13 year-old female patient with the following clinical features: bilateral macrodactyly and bilateral gigantism of feet, linear epidermal nevus, abdominal subcutaneous lipomatous masses. We discuss, through a review of the literature, the clinical features, the diagnosis and the management of this rare syndrome.

Laboratories,

Courbevoie,

France

PLE represents an abnormal response of human skin to UVAradiation (UVAR), which is characterized by the expression of proinflammatory molecules such as ICAM- 1 on the surface of KC. We have assessed whether the induction of KC ICAMexpression and the development of skin lesions in PLE patients may be affected by topical application of a UVA/UVB filtering sunscreen (Eusolex 6300 + TiOz + Parsol 1789 + Mexoryl SX; Anthelios L) or pretreatment with DHA (Autohelios). Skin lesions were induced by simultaneously using 2 different protocols: (i) exposure of previously affected skin to 3 x 100 J/cm’ UVA or (ii) to 20, 20, 30, 40, and 60 J/cm2 UVA for 5 days. We found that Anthelios L was highly effective in protecting against UVAR-induced skin lesions in 900 patients regardless of the provocation protocol used. A strong KC ICAMexpression was observed in UVA-irradiated, but not in sunscreen pretreated + UVA-irradiated, or normal control skin. Pretreatment of skin areas with DHA also provided protection against UVAR-induced PLE lesions in 5/8 patients. These studies indicate that both the broad spectrum sunscreen and, to a lesser extent, the DHA formulation tested, provide significant protection against the induction of skin lesions in PLE. Moreover, KC ICAM- expression and development of skin lesions in PLE patients are closely linked and may be causally related. I P255 Prevention of solar urticaria using a

broadspectrum sunscreen and determination of a solar urticaria protecting factor (SUPF)

J.L. Peyron ’ , D. Moyal 2, A. Rougier 3, C. Hourseau 2. ’ Departement of Dermatology, Saint Eloi Hospital, Montpellier; Pharmaceutical

21’Oreal Research, Clichy; 3La Roche-Posay Laboratories, Courbevoie, France

Solar urticaria (SU) is a rare photodennatosis whose preventive treatment remains difficult. An alternative would of the use of sunscreen products. Unfortunately, up to now, most them were found poorly effective as SU is known to be elicited mainly by UVA. We determined the Solar Urticaria Protection Factor (SUPF) using a broadspectrum sunscreen containing UVB (Eusolex 6300 + TiOz) and UVA (Pars01 1789 + Mexoryl SX) filters (SPF (UVB) = 60; IPD/PPD (UVA) = 55/12). 10 patients susceptible to SU were investigated. The action spectrum of SU was determined in each patient following irradiation with a xenon arc solar simulator. Spectral bands used were: 360 f 10 nm (long UVA), 335 f 10 nm (short UVA), 310 f 10 nm