Identification of a founder variant AAGAB c. 370C >T, p. Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark [PDF]
Clinical GeneticsPalmoplantar 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
exaly +4 more sources
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
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
europepmc +4 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
doaj +2 more sources
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma [PDF]
Nature Genetics, 2012 Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics. Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerable heterogeneity. In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function
O Mamaï, Jennifer Hirst, Mozheh Zamiri
exaly +8 more sources
Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma [PDF]
Journal of Investigative Dermatology, 2014 The article is describing mutations of causative gene for punctate palmoplantar keratoderma type I.
Claire A Higgins +2 more
exaly +8 more sources
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
doaj +2 more sources
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
core +5 more sources
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.
europepmc +3 more sources