Mal de Meleda: relato de 2 casos de ocorrência familiar
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چکیده
منابع مشابه
Síndrome de Kindler - relato de dois casos
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosens...
متن کاملKeratoderma Palmoplantaris Transgrediens (Mal de Meleda): A case report
Mal de meleda (Keratoderma plamoplantaris transgrediens) is a rare autosomal recessive form of palmoplantar keratoderma with hyperkeratosis of palms and soles, which appears soon after birth and progressively involves other areas (Transgrediens) of the skin especially dorsal aspects of hands and feet. We report a 20-year-old woman with mal de meleda with some unusual clinical features, i....
متن کاملA Case Report of Transgrediant Palmoplantar Keratoderma (Mal de Meleda)
Mal de Meleda is a rare autosomal recessive transgredient keratoderma .Onset is in early childhood, and the development of hyperkeratosis is preceded by erythema. Patches of waxy ivory-yellow hyperkeratosis extend across the whole palms and soles, and on to the dorsal surfaces of hands and feet. Similar lesions of knees and elbows may develop. We describe an 18 year old man with the diagnosis o...
متن کاملMal de meleda - through history and today.
Meleda disease is an indigenous dermatological disease classified as a hereditary palmoplantar keratoderma. The disease was first described on the island of Mljet, Croatia, by Luko Stulli in 1826. We present a historical review of the literature data throughout the centuries till today. Recently, the gene responsible for the disease has been identified on chromosome 8qter within the cluster of ...
متن کاملMal de Meleda in a taiwanese.
Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-alpha release. A 27-year-old Taiwanese woman who had a history of palmoplantar keratoderma since...
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ژورنال
عنوان ژورنال: Anais Brasileiros de Dermatologia
سال: 2011
ISSN: 0365-0596
DOI: 10.1590/s0365-05962011000700026