dermatopathia pigmentosa reticularis
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Epidemiology
- rare
Pathology
- basal epidermal skin cells affected
- condensed keratin filaments
- perinuclear keratin filament retraction
Genetics
- autosomal dominant
- associated with premature termination mutations in KRT14 gene
Clinical manifestations
- complete absence of dermatoglyphics
- reticulate hyperpigmention of the skin
- lifelong persistence of skin hyperpigmentaton
- palmoplantar keratoma
- hypohydrosis
- dental anomalies
- partial alopecia
More general terms
Additional terms
- keratin, type 1 cytoskeletal 14; cytokeratin-14; CK-14; keratin-14; K14 (KRT14)
- Naegeli-Franceschetti-Jadassohn syndrome (NFJS); Naegeli syndrome
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/16960809
- ↑ OMIM https://mirror.omim.org/entry/125595