Results 91 to 100 of about 7,987 (210)

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]

, 2016
BACKGROUND: 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 ...
Hetland , Liv Eline, Ole Clemmensen, Diana C. Blaydon, Liv Eline Hetland, Hertz, Jens Michael, Jens Michael Hertz, Anette Bygum, Blaydon, Diana C, Anne Bruun Krøigård, Clemmensen, Ole, Krøigård, Anne Bruun; id_orcid, Bygum, Anette; id_orcid   +11 more
core   +2 more sources

Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Pundate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)

, 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.
Artuz, Ferda, Polat, Muhterem, Oztas, Pinar, Dagdelen, Serife, Erdemli, Esra, Alli, Nuran, Ustun, Huseyin   +6 more
core   +1 more source

Zinser–Engmann–Cole syndrome: Two case report

Indian Journal of Paediatric Dermatology, 2019
We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled ...
Bangaru Hanumaiah, Sathish Shankar, Nanjunda Swamy B Lingaiah   +2 more
doaj   +1 more source

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Tsatsopoulou, Adalena, Nikos Protonotarios, Adalena Tsatsopoulou, Protonotarios, Nikos   +3 more
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Clinical and genetic characterisation of palmoplantar keratoderma

Palmoplantar keratodermi er en tilstand kendetegnet ved hård og fortykket hud på håndflader og fodsåler. Ud over de ofte iøjnefaldende hudforandringer, kan sygdommen også ledsages af både smerter, sved- og lugtgener.
Gram, Stine Bjørn; id_orcid
core   +1 more source

A Case Report of Transgrediant Palmoplantar Keratoderma (Mal de Meleda) [PDF]

, 2015
: Mal de Meleda is a rare autosomal recessive transgredient keratoderma .Onset is in early childhood, and the development of hyperkeratosis is preceded by erythema. Patches of waxy ivory-yellow hyperkeratosis extend across the whole palms and soles, and
Darvish Damavandi F., Daraei Z., Shamsadini S.A.,
core  

Atypical Presentation of Papillon–Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement

Reports
Background and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible ...
Mishari Alrubaiaan, Mansour Almutairi, Waleed Alajroush   +2 more
doaj   +1 more source

Cutaneous adverse events associated with BRAF and MEK inhibitors: a systematic review and meta-analysis

Frontiers in Pharmacology
AimCutaneous adverse events (CAEs) after treatment with BRAF and MEK inhibitors in patients with melanoma remain incompletely characterized. To determine the association of BRAF and MEK inhibitor treatment with CAEs in patients with melanoma compared ...
Junhui Qian, Jinlong Wan, Qin Yao, Yin Chen, Tao Ling, Yuejuan Zhang, Zhihua Tang   +6 more
doaj   +1 more source

Focal palmoplantar keratoderma in 2 children leading to gait abnormalities.

, 2006
Hereditary focal palmoplantar keratoderma are a heterogeneous group of disorders of keratinization characterized by focal areas of thickening of the palms and soles Different genetic abnormalities have been identified for the disorders under this group ...
Adebola. O., Ademola S.A.
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