Congenital Primary Pachydermoperiostosis and Striate Palmoplantar Keratoderma - a Case Report
نویسندگان
چکیده
منابع مشابه
Brunauer-Fuhs-Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma
Brunauer-Fuhs-Siemens palmoplantar keratoderma, commonly known as striate palmoplantar keratoderma, is a rare, autosomally inherited disease of linear hyperkeratosis in which patient usually presents with conspicuous longitudinal hyperkeratosis on volar surface of hands and feet. Mutations in 3 genes namely desmoglein 1, desmoplakin and keratin 1, have been identified and held responsible for t...
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 کاملHereditary palmoplantar keratoderma associated with primary (congenital) lymphedema.
The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally ...
متن کاملHaploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
Desmosomes are highly organized intercellular adhesive junctions that are particularly prominent in epidermis and other tissues experiencing mechanical stress. Desmoplakin, a constitutive component of the desmosomal plaque, is the most abundant protein present in such junctions and plays a critical role in linking the intermediate filament network to the plasma membrane in these tissues. Here w...
متن کاملUnilateral Linear Punctate Palmoplantar Keratoderma: A Case Report
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Among the PPPK varieties, the linear presentation is much rarer, and so far there have been only 3 case reports. Here, we report the case of a 27-year-old fem...
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ژورنال
عنوان ژورنال: Serbian Journal of Dermatology and Venereology
سال: 2014
ISSN: 2406-0631,1821-0902
DOI: 10.2478/sjdv-2014-0008