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Naegeli-Franceschetti-Jadassohn syndrome (NFJS); Naegeli syndrome
Epidemiology:
- rare
Pathology:
1) ectodermal dysplasia
2) basal epidermal skin cells affected
3) condensed keratin filaments
4) 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
a) starts at about the age of 2 years without a preceding inflammatory stage
b) tends to slowly disappear with age
3) palmoplantar keratoderma
4) hypohydrosis
a) diminished sweat gland function
b) discomfort provoked by heat
5) in some patients:
a) enamel & dental anomalies in some patients
b) skin blistering in some patients
c) distorted nail plates
Related
dermatopathia pigmentosa reticularis
keratin, type 1 cytoskeletal 14; cytokeratin-14; CK-14; keratin-14; K14 (KRT14)
General
keratinopathy
syndrome
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 161000
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: 16960809
- OMIM :accession 161000