Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda
نویسندگان
چکیده
منابع مشابه
[Meleda disease (Mal de Meleda): historical shifts in perception].
Nowadays, hereditary diseases are viewed through molecular mechanisms, and one of them, which keeps occurring rather frequently in medical publications, has been named after the Island of Mljet. The world first learned about mal de Meleda from a Dubrovnik physician Luka Stulli in 1826. He described it in a number of his island patients as a non-contagious hereditary skin disease, and named it m...
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...
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 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 کاملMutations in the gene encoding SLURP-1 in Mal de Meleda.
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previously described interval of MDM on chromosome 8qter, and the identification of mutations in affected individuals in the ARS (component B) gene, encodin...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2015
ISSN: 0007-0963
DOI: 10.1111/bjd.13868