Results 11 to 20 of about 4,905 (212)

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

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

Indian Dermatology Online Journal, 2016
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep   +2 more
doaj   +2 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   +2 more sources

Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +2 more sources

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation

Clinical Dermatology Review
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya   +4 more
doaj   +2 more sources

Leukoencephalopathy and Keratoderma

Pediatric Neurology Briefs, 1995
A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel.
J Gordon Millichap
doaj   +2 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

, 2022
Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles.
Olga Shatokhina, Ryzhkova, Oksana, Fedotov, Valeriy, Olga Shchagina, Tatiana Fedotova, Markova, Tatiana, Oksana Ryzhkova, Shchagina, Olga, Tatiana Markova, Shatokhina, Olga, Valeriy Fedotov, Polyakov, Aleksander, Aleksander Polyakov, Fedotova, Tatiana   +13 more
core   +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