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Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma
Clinical and Experimental Dermatology, 2017 Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34.
Dinani, N. +4 more
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Punctate Palmoplantar Keratoderma (Brauer-Buschke-Fischer Syndrome)
American Journal of Clinical Dermatology, 2007 Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of about 1.17 per 100,000. The exact etiology of the disorder is not known but a dual influence of genetic and environmental factors may trigger the disease. We report the case of a 70-year-old male patient with punctate palmoplantar keratodermic lesions for ...
Oztas, Pinar +6 more
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Punctate palmoplantar keratoderma and malignancy in a four-generation family
British Journal of Dermatology, 1996We report a large kindred in which a punctate palmoplantar keratoderma (PPK) is associated with malignancy, including Hodgkin's disease, renal, breast, pancreatic and colonic adenocarcinomas. The family was traced through four generations, and over 320 individuals were identified, of whom 49 had punctate PPK.
H P, Stevens +5 more
exaly +3 more sources
Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer‐Buschke‐Fischer Syndrome)
Journal of Dermatology, 2004AbstractWe describe the first case of a sixty‐five‐year‐old male field worker from India, having lesions of hereditary punctate palmoplantar keratoderma with an autosomally dominant pattern of inheritance. Associations included nail abnormalities in the form of longitudinal ridging, onychorrhexis, onychoschizia, trachyonychia and notching, which has ...
exaly +3 more sources
British Journal of Dermatology, 2005
Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine
M, Gao +12 more
exaly +3 more sources
Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine
M, Gao +12 more
exaly +3 more sources
Congenital hypopigmentation, hyperpigmentation, and punctate palmoplantar keratoderma
Pediatric Dermatology, 2022Megan Evans
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Hyperkeratotic Plaques on the Extensor Extremities and Punctate Palmoplantar Keratoderma in a Boy
Clinical Cases in Dermatology, 2022George Kroumpouzos
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Punctate palmoplantar keratoderma, porokeratotic type
Russian Journal of Clinical Dermatology and Venereology, 2023Palmoplantar keratoderma is a group of diseases manifested by the thickening of the skin of the palms and soles. A group of punctate keratoderma is distinguished, in which separate small lesions are distributed over the palmoplantar surface. The most common is punctate keratoderma type I Buschke—Fischer—Brauer with identified gene mutations associated ...
A.N. Khlebnikova, O.V. Dorokhina
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Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma
2012A 12-year-old male presented with a combination of two disorders: macular guttate hypopigmentation on the trunk and extremities (Figs. 78.1 and 78.2) started since birth, and punctate palmoplantar keratoderma (Figs. 78.3 and 78.4), developed 6 months after birth.
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