KEGG   DISEASE: Dermatopathia pigmentosa reticularis
Entry
H00796                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00796  Dermatopathia pigmentosa reticularis
Gene
KRT14 [HSA:3861] [KO:K07604]
Comment
Naegeli-Franceschetti-Jadassohn syndrome (H00708) is an allelic disorder .
Other DBs
ICD-11: LD27.0Y
MeSH: C535374
OMIM: 125595
Reference
  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
Reference
  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
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