Results 11 to 20 of about 27,969 (160)

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. [PDF]

Br J Dermatol, 2014
Dear Editor, Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles that usually start in early adolescence but may also start later in life.1 Lesions increase in size and number ...
Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ.   +9 more
europepmc   +10 more sources

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, Aneta Szczerkowska-Dobosz, Marta Stawczyk-Macieja, Maria Czubek   +3 more
doaj   +3 more sources

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. [PDF]

Nat Genet, 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
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH.   +31 more
europepmc   +9 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 multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the ...
M. Zamiri, N.J. Wilson, A. Mackenzie, G. Sobey, C. Leitch, F.J.D. Smith   +5 more
openaire   +5 more sources

Hereditary Punctate Palmoplantar Keratoderma in Three Generations. [PDF]

Indian Dermatol Online J, 2023
Dani I, Passi S, Ramesh V.
europepmc   +3 more sources

Plantar Lichen Planus. [PDF]

Clin Case Rep
ABSTRACT Plantar Lichen Planus is a rare and often underrecognized variant of Lichen Planus that can mimic pityriasis rubra pilaris and psoriasis clinically. Accurate diagnosis relies on clinicopathological correlation, and a high index of suspicion is essential in atypical or treatment resistant plantar dermatoses for appropriate management.
Uprety S, Thapa P, Lamichhane P, Jaiswal S.   +3 more
europepmc   +2 more sources

Low-Dose Oral Retinoid Combined with Topical Therapy Successfully Treats Punctate Palmoplantar Keratoderma Lesions Misdiagnosed as Corns: A Case Report [PDF]

Indian Journal of Dermatology, 2021
Joon Woo Jung, Eun Hye Hong, Eun Joo Park, Kwang Joong Kim, Kwang Ho Kim   +4 more
doaj   +2 more sources

Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

Acta Dermato Venereologica, 2015
Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation ...
Nomura, Toshifumi, Yoneta, Akihiro, Pohler, Elizabeth, Suzuki, Shotaro, Osawa, Rinko, Mizuno, Osamu, Ohguchi, Yuka, Nomura, Yukiko, Yamashita, Toshiharu, McLean, W. H. Irwin, Shimizu, Hiroshi   +10 more
openaire   +5 more sources

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. [PDF]

Am J Hum Genet, 2012
Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified.
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM.   +12 more
europepmc   +4 more sources

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.
Punctate palmoplantar keratoderma in Southern Denmark is caused by a founder variant in AAGAB. Abstract 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. We investigated if the variant AAGAB c.
Stine Bjørn Gram, Anne Sofie Fredberg Jørgensen, Anette Bygum, Klaus Brusgaard, Lilian Bomme Ousager   +4 more
wiley   +2 more sources