Results 131 to 140 of about 1,256 (158)

Congenital hypopigmentation, hyperpigmentation, and punctate palmoplantar keratoderma

Pediatric Dermatology, 2022
Megan S Evans
exaly   +3 more sources

Punctate palmoplantar keratoderma, porokeratotic type

Russian Journal of Clinical Dermatology and Venereology, 2023
Palmoplantar 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
openaire   +1 more source

Unilateral linear punctate palmoplantar keratoderma

Indian Journal of Dermatology, Venereology and Leprology, 2012
Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome) is a rare entity. Among punctate keratoderma, the linear presentation is much rarer, and exact incidence is not known. Unilateral linear punctate palmoplantar keratoderma is not yet reported in the literature.
Sudhanshu, Sharma, Krishna Deb, Barman, Vijay Kumar, Garg, Shalu, Jain   +3 more
exaly   +3 more sources

Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer‐Buschke‐Fischer Syndrome)

Journal of Dermatology, 2004
AbstractWe 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 ...
Archana Singal
exaly   +3 more sources

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, Ustun, Huseyin, Polat, MUHTEREM, Erdemli, Esra, Artuz, Ferda, Alli, Nuran, Dagdelen, Serife   +6 more
openaire   +3 more sources

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., Ali, M., Liu, L., McGrath, J., Mellerio, J.   +4 more
openaire   +3 more sources

Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients [PDF]

Journal of Investigative Dermatology, 2013
Wenjun Wang, Yi Zhou, Tianwen Gao
exaly   +4 more sources

Hyperkeratotic Plaques on the Extensor Extremities and Punctate Palmoplantar Keratoderma in a Boy

Clinical Cases in Dermatology, 2022
Shashank Bhargava, George Kroumpouzos
exaly   +2 more sources

Punctate palmoplantar keratoderma and malignancy in a four-generation family

British Journal of Dermatology, 1996
We 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, D P, Kelsell, I M, Leigh, L S, Ostlere, K D, MacDermot, M H, Rustin   +5 more
exaly   +3 more sources

Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31

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, S, Yang, M, Li, K L, Yan, Y X, Jiang, Y, Cui, F L, Xiao, Y J, Shen, J J, Chen, J B, Liu, S J, Xu, W, Huang, X J, Zhang   +12 more
exaly   +3 more sources