Results 1 to 10 of about 7,987 (210)
Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma [PDF]
Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles. Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature. We report a
Sara Lestre +3 more
doaj +4 more sources
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala +2 more
doaj +2 more sources
Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO +3 more
doaj +2 more sources
Hereditary Diffuse Transgradient Palmoplantar Keratoderma in a 57-year-old Male: A Case Report [PDF]
Palmoplantar keratoderma refers to a heterogeneous group of disorders characterised by abnormal thickening of the stratum corneum of the palms and soles.
Swathi Ganesh Shenoy +3 more
doaj +1 more source
Do you know this syndrome? Clouston syndrome [PDF]
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic.
Sarah Sanches +3 more
doaj +2 more sources
Palmo-plantar hyperkeratosis associated with HTLV-1 infection: a case report
Background Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its ...
Elías Quintero-Muñoz +6 more
doaj +1 more source
Olmsted syndrome: Report of two cases
Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini +3 more
doaj +1 more source
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
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai +5 more
doaj +1 more source
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa +5 more
doaj +1 more source

