نتایج جستجو برای: palmoplantar keratoderma of sybert
تعداد نتایج: 21164350 فیلتر نتایج به سال:
Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic p...
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....
Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous...
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to ou...
A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in soles (Fig. 1). The remaining physical examination unremarkable. There a family history palmoplantar hyperkeratosis mother maternal grandfather. To spare child, punch skin biopsy taken from his mother. Patholo...
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation (A7445G) of the mito-chondrial t-RNA coded for serine (MT-TS1) is created. Case Report: On skin examination of a 7 year old boy, we observed hyper...
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The na...
IL: interleukin PRP: pityriasis rubra pilaris TNF: tumor necrosis factor INTRODUCTION Pityriasis rubra pilaris (PRP) is a heterogeneous inflammatory skin disease characterized by follicular papules, orange palmoplantar keratoderma, and erythematous scaly patches with islands of skin sparing. Type II PRP is a rare, severe, chronic form of PRP presenting atypical features including long disease d...
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