Brunauer–Fuhs–Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma
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 کاملWatcher’s type of palmoplantar keratoderma
A 51-year-old man reported with progressive thickening of the skin of the hands and feet since the age of 6yrs. It was largely asymptoma c; however, brisk walking caused excessive swea ng, pain, and widening of the fissures on the soles of the feet. He also had scaly raised lesions on legs and knees. His mother, maternal aunt, cousin and nephew had similar lesions. Examination of the soles of f...
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 کاملHereditary palmoplantar keratoderma type papulosa in Slovenia.
BACKGROUND Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify al...
متن کاملAutosomal recessive epidermolytic palmoplantar keratoderma.
Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2016
ISSN: 2319-7250
DOI: 10.4103/2319-7250.179500