H00796 | |
H number | H00796 |
Name | Dermatopathia pigmentosa reticularis |
Description | Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the disease are palmoplantar keratoderma and hypohidrosis. |
Category | Congenital malformation |
Network | - |
Gene | KRT14 [HSA:3861] [KO:K07604] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Naegeli-Franceschetti-Jadassohn syndrome (H00708) is an allelic disorder . |
Other DBs | ICD-11: LD27.0Y ICD-10: Q82.4 MeSH: C535374 OMIM: 125595 |
Reference | PMID:17958818 AUTHORS Brar BK, Mehta V, Kubba A TITLE Dermatopathia pigmentosa reticularis. JOURNAL Pediatr Dermatol 24:566-70 (2007) DOI:10.1111/j.1525-1470.2007.00526.x PMID:20180888 AUTHORS van Steensel MA, Lemmink HH TITLE A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. JOURNAL J Eur Acad Dermatol Venereol 24:1116-7 (2010) DOI:10.1111/j.1468-3083.2010.03598.x |