نتایج جستجو برای: palmoplantar keratoderma of sybert
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Palmoplantar keratodermas comprise a diverse group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Early onset and positive family history suggest a genetic cause. While hereditary forms of palmoplantar keratoderma (PPK) may represent the sole or dominant clinical feature, they may also be associated with other ectodermal defects or extra...
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...
Pachyonychia congenita comprises a heterogeneous group of autosomal dominantly inherited conditions manifesting with characteristic nail thickening, palmoplantar keratoderma, follicular keratosis and oral manifestations like mucosal leukokeratosis. Less frequently epidermal cysts, hair-shaft abnormalities, natal teeth and laryngeal involvement may be seen. It is distributed almost evenly throug...
A steadily growing number of hereditary palmoplantar keratodermas (PPKs) have been found to result from defective function epidermal adhesion proteins such as desmoglein 1 (DSG1), a critical component desmosomes which has implicated in the pathogenesis striate, diffuse and focal PPKs. Here we aimed at delineating genetic basis novel dominant form PPK. We studied three patients two families diag...
palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...
DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...
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