Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KRT14

Green List (high evidence)

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis present with palmoplantar keratoderma.
Dermatopathia pigmentosa peticularis shares key features with NFJS but has been distinguished from it by lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies.

PMID: 31525823;
- 5 generation Chinese family with skin abnormalities, mild decrease in heat and tactile sensitivity, slight difficulty in finger flexion. no others were observed
> het for missense p.(Leu164Pro)

PMID: 19040520;
1x proband with DPR
> het for missense Arg125Cys

PMID: 16960809;
- 5 families with NFJS / DPR
> all PTVs including Gln7* harboured by all 3 English families

Created: 12 Aug 2020, 7:10 a.m. | Last Modified: 12 Aug 2020, 7:10 a.m.

Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)

Publications

• 31525823
• 16960809
• 19040520