A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type [PDF]
Journal of Investigative Dermatology, 2006 Keratin gene mutations affecting nonhelical head and tail domains are not usually associated with prominent skin blistering and keratin filament clumping. Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5 ...
Richardson, Elizabeth S. +3 more
core +4 more sources
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma [PDF]
Frontiers in Genetics, 2019 Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the ...
Yuwei Li +11 more
doaj +2 more sources
Second-line antitubercular therapy with ethionamide and pyrazinamide causing pellagroid dermatitis presenting as diffuse palmoplantar keratoderma [PDF]
JAAD Case Reports, 2021 Mahendra M. Kura, MD, DNB +2 more
doaj +3 more sources
Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report
SAGE Open Medical Case Reports, 2023 Hereditary palmoplantar keratoderma is a rare heterogenous group of genodermatoses characterised by hyperkeratosis of the palms and soles. Genetic alterations affecting proteins of the keratin cytoskeleton, cornified cell envelope, desmosomes and gap ...
Kellicia Courtney Govender +1 more
doaj +1 more source
Ibom Medical Journal, 2023 Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA +5 more
doaj +1 more source
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-) [PDF]
BMJ Case Reports, 2012 We report the case of a 28-year-old man presenting to our hospital with refractory diffuse hyperkeratosis of palms and soles. He reported first appearance in early childhood. His first-born daughter also developed hyperkeratosis on palms and soles directly after birth. No other family member seems to be affected by similar skin lesions.
Louisa, Hinterberger +3 more
openaire +2 more sources
Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations [PDF]
Anais Brasileiros de Dermatologia, 2017 Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity.
Moustafa Abdelaal Hegazi +3 more
doaj +2 more sources
Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes [PDF]
Veterinarski Glasnik, 2021 Thirteen members of aquaporin (AQP), a water channel, are expressed in mammals. In this review, we briefly overview these mammalian AQPs, then focus on AQP5, an exocrine gland-type AQP.
Hosoi Kazuo +2 more
doaj +1 more source