نتایج جستجو برای: keratoderma

تعداد نتایج: 755  

Journal: :Journal of Investigative Dermatology 2022

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...

Journal: :Revista da Sociedade Portuguesa de Dermatologia e Venereologia 2017

F Darvish damavandi S SHamsodini Z Daraei

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...

Journal: : 2023

Focal acral hyperkeratosis (FAH) is a rare genodermatosis. FAH usually observed in the second or third decades of life, and it type palmoplantar keratoderma, heterogeneous group diseases characterized by abnormal incrassation palms soles. Although an autosomal dominant inher- itance, could also be sporadic. It known as variant Costa’s Acrokeratoelastoidosis (AKE). Its etiology not clearly there...

Journal: :Journal of Investigative Dermatology 2023

Background: Pachyonychia congenita (PC) is a rare keratinization disorder with around 1,000-10,000 cases reported worldwide. The mutation involves: KRT6A, KRT6B, KRTC6C, KRT16 or KRT17. Patients present severe plantar pain, palmoplantar keratoderma underlying blisters, and variable hypertrophic nail dystrophy [1]. Visual Analogue Scale (VAS) measures pain intensity. VAS consists of two endpoint...

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