Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]
, 2017 INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa +16 more
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Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma
Case Reports in Medicine, 2010 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 +1 more source
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Indian Dermatology Online Journal, 2016 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
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Do you know this syndrome? Clouston syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 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
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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]
, 2014 Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E. +9 more
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Palmo-plantar hyperkeratosis associated with HTLV-1 infection: a case report
BMC Infectious Diseases, 2021 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
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Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Pifu-xingbing zhenliaoxue zazhi, 2023 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
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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]
, 2015 Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis +28 more
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Palmoplantar keratoderma with keratoconus
Middle East African Journal of Ophthalmology, 2018 Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire +3 more sources
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin [PDF]
, 2016 Pityriasis rubra pilaris is a chronic inflammatory dermatosis of unknown etiology and great clinical variability. It has been divided into six categories.
Carvalho, S. +3 more
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