A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family
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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 کاملTransgrediens et progrediens palmoplantar keratoderma of Sybert: Four cases in a single family
Palmoplantar keratoderma of Sybert (PPK of Sybert) or Sybert’s keratoderma was first documented by Virginia Sybert in 1988. Due to the high degree of similarity, it was previously considered to be Greither’s keratoderma, an established entity at that time. Currently, clinical and ultrastructural studies distinguish between the two disorders. Sybert’s keratoderma is an extremely rare type of ker...
متن کاملA novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
© 2014 The Authors. doi: 10.2340/00015555-1724 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Punctate palmoplantar keratoderma (PPPK, OMIM 148600), also known as Buschke-Fischer-Brauer’s disease, is a rare autosomal dominant disorder. It is characterised by multiple tiny punctate keratoses on the surface of the palms and soles (1). The lesions usually start to develop in...
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 کاملA spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
TO THE EDITOR The keratin 16 gene (KRT16) encodes an intermediate filament protein mainly expressed in palmoplantar epidermis. In humans, mutations in KRT16 are responsible for pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma (FNEPPK; Smith et al., 2000; McLean and Moore, 2011). One of the main symptoms is a painful thickening of the palms and soles. To understand mol...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2015
ISSN: 0022-202X
DOI: 10.1038/jid.2014.429