Results 11 to 20 of about 282,297 (205)

Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma [PDF]

Case Reports in Medicine, 2010
Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles. Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature. We report a
Sara Lestre, Eva Lozano, Cláudia Meireles, Ana Barata Feio   +3 more
doaj   +4 more sources

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations [PDF]

Anais Brasileiros de Dermatologia, 2017
Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity.
Moustafa Abdelaal Hegazi, Sommen Manou, Hazem Sakr, Guy Van Camp   +3 more
doaj   +4 more sources

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Journal of the European Academy of Dermatology and Venereology, 2023
AbstractBackgroundHereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent palmoplantar hyperkeratosis. Loss‐of‐function variants in a serine peptidase inhibitor, SERPINA12, have recently been implicated in autosomal recessive diffuse hPPK.
E. Brandt, L. Harjama, O. Elomaa, J. Saarela, K. Donner, K. Lappalainen, S. Kivirikko, A. Ranki, J. Kere, K. Kettunen, K. Hannula‐Jouppi   +10 more
openaire   +4 more sources

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report [PDF]

BMC Dermatology, 2016
An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles.We report the first Danish family ...
Krøigård, Anne Bruun; id_orcid 0000-0002-1839-8817, Hetland , Liv Eline, Clemmensen, Ole, Blaydon, Diana C, Hertz, Jens Michael, Bygum, Anette; id_orcid 0000-0002-3004-0180   +5 more
openaire   +6 more sources

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma [PDF]

The American Journal of Human Genetics, 2013
Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water. After exome sequencing, missense mutations were identified in AQP5, encoding water-channel protein aquaporin-5 (AQP5). Protein-structure analysis indicates that these AQP5 variants
Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J. D., Wilson, Neil J., McLean, W. H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O'Toole, Edel A., Lundström, Anita, Kelsell, David P.   +12 more
openaire   +5 more sources

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review

Molecular Genetics & Genomic Medicine, 2019
Background Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (KRT9) or KRT1 gene.
Xiaoliang Liu, Chuang Qiu, Rong He, Yuanyuan Zhang, Yanyan Zhao   +4 more
doaj   +2 more sources

Clinical and Histopathological Findings in Palmoplantar Lichen Planus Presenting as Diffuse Keratoderma

Dermatology Practical & Conceptual
Gianluca Avallone, Isotta Giunipero di Corteranzo, Rebecca Senetta, Gabriele Roccuzzo, Pietro Quaglino, Simone Ribero   +5 more
doaj   +3 more sources

Naturally occurring AQP5 mutations in rats and humans and their affected phenotypes [PDF]

Veterinarski Glasnik, 2021
Thirteen members of aquaporin (AQP), a water channel, are expressed in mammals. In this review, we briefly overview these mammalian AQPs, then focus on AQP5, an exocrine gland-type AQP.
Hosoi Kazuo, Karabasil Mileva Ratko, Murdiastuti Kwartarini   +2 more
doaj   +1 more source

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing

Frontiers in Genetics, 2021
Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal
Qianqian Li, Xiaofan Zhu, Conghui Wang, Jingjing Meng, Duo Chen, Xiangdong Kong   +5 more
doaj   +1 more source

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BackgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis.
Wilson, N. J., Shepherd, A. A., Hansen, C. D., Sprecher, E., Milstone, L. M., McLean, W. H. I., Schwartz, M. E., Al-Asadi, E., Smith, F. J. D., O'Toole, E.   +9 more
core   +1 more source