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dermatopathia pigmentosa reticularis

Epidemiology: - rare Pathology: 1) basal epidermal skin cells affected 2) condensed keratin filaments 3) perinuclear keratin filament retraction Genetics: 1) autosomal dominant 2) associated with premature termination mutations in KRT14 gene Clinical manifestations: 1) complete absence of dermatoglyphics 2) reticulate hyperpigmention of the skin - lifelong persistence of skin hyperpigmentaton 3) palmoplantar keratoma 4) hypohydrosis 5) dental anomalies 6) partial alopecia

Related

keratin, type 1 cytoskeletal 14; cytokeratin-14; CK-14; keratin-14; K14 (KRT14) Naegeli-Franceschetti-Jadassohn syndrome (NFJS); Naegeli syndrome

General

keratinopathy syndrome

Database Correlations

OMIM 125595

References

  1. Lugassy J et al, Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14 Am J Hum Genet 2006, 79:724 PMID: 16960809
  2. OMIM :accession 125595