Results 11 to 20 of about 4,297 (152)
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 +4 more sources
Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma [PDF]
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 +4 more sources
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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Severe hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome) [PDF]
Przegląd Dermatologiczny, 2015 Introduction. Keratoderma of the hands and feet is a chronic disorder of epidermal keratinization, which consists of many various forms. Objective. To present a case of a 54-year-old woman with severe hereditary punctate palmoplantar keratoderma.
Dorota Jaśkiewicz-Nyckowska +3 more
doaj +2 more sources
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
doaj +2 more sources
Clinical Dermatology ReviewPapillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa +4 more
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Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
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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
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Punctate Palmoplantar Keratoderma
Gazeta Médica, 2021 A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due to palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in the soles (Fig. 1).
Susana Cláudia Teixeira +3 more
doaj +3 more sources
The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]
, 2014 BackgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis.
Wilson, N. J. +9 more
core +1 more source