Results 11 to 20 of about 1,347 (192)

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   +2 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

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome [PDF]

Genetics and Molecular Biology, 2003
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +3 more
doaj   +2 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   +4 more sources

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

Anais Brasileiros de Dermatologia, 2018
: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr, Juliano Peruzzo, Tania Cestari   +2 more
doaj   +3 more sources

Olmsted syndrome: Report of two cases

Indian Journal of Dermatology, 2011
Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini, N Hema, S Jayakumar, B Parveen   +3 more
doaj   +2 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   +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

Small Cell Variant of T-Cell Prolymphocytic Leukemia with Acquired Palmoplantar Keratoderma and Cutaneous Infiltration

Oman Medical Journal, 2016
T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive post-thymic malignancy that is characterized by the proliferation of small- to medium- sized prolymphocytes.
Buthaina Al-Musalhi, Nancy Shehata, Robin Billick   +2 more
doaj   +2 more sources

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Cellular Physiology and Biochemistry, 2018
Background/Aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border.
Heng Xiao, Yi Guo, Junhui Yi, Hong Xia, Hongbo Xu, Lamei Yuan, Pengzhi Hu, Zhijian Yang, Zhenghao He, Hongwei Lu, Hao Deng   +10 more
doaj   +3 more sources