Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report. [PDF]
Clin Case RepKeratosis palmoplantaris striata type I (SPPK-I) is a rare autosomal-dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein-1 (DSG-1).
Koschitzki K +8 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 +5 more sources
Punctate palmoplantar keratoderma: A case report and literature review
Clinical Dermatology Review, 2023 Punctured palmoplantar keratodermas are rare autosomal-dominant keratodermas presenting as asymptomatic, tiny hyperkeratotic pigmented papules on the palms and soles.
J P Prathibha, Vijay Venkataraj Aithal
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Severe hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)
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
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Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB [PDF]
British Journal of Dermatology, 2019 Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of ...
Leitch, C. +5 more
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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark [PDF]
Clinical Genetics, Volume 105, Issue 5, Page 561-566, May 2024.Palmoplantar keratoderma (PPK) is a heterogeneous group of rare skin diseases characterized by hyperkeratosis on the palms or soles. The subtype isolated punctate PPK is caused by heterozygous variants in AAGAB.
Brusgaard, Klaus +4 more
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Punctate Palmoplantar Keratoderma: A Case Report. [PDF]
Cureus, 2023 Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance.
Knowles A, Adams M, Glass DA.
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Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24 [PDF]
Journal of Medical Genetics, 2003 29 páginas, 4 figuras, 1 tabla.Background: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the ...
Martínez Mir, Amalia +13 more
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Hereditary Punctate Palmoplantar Keratoderma in Three Generations. [PDF]
Indian Dermatol Online J, 2023 Dani I, Passi S, Ramesh V.
europepmc +3 more sources
Management of Pitted Keratolysis- A Rare Dermatological Condition [PDF]
Journal of Clinical and Diagnostic Research, 2023 Pitted keratolysis, a skin condition that damages the stratum corneum of the arch of the foot, is caused by gram positive bacteria. Responsible agents include Dermatophiluscongolensis, Corynebacterium sp., and Micrococcus sedentarius.
Aman Chhabra +2 more
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