Palmoplantar keratoderma and erythrokeratodermas

Gene: KRT14

Green List (high evidence)

Comment when marking as ready: Discussed with Helen Brittain who agrees with Green rating.

Created: 3 Apr 2017, 9:26 a.m.

Comment on list classification: Updated rating from Amber to Green following discussion with Helen Brittain: PPK is a feature of Naegeli-Franceschetti-Jadassohn syndrome and EB simplex. There are sufficient case reports for inclusion on the panel.

Created: 3 Apr 2017, 9:25 a.m.

Comment on list classification: Updated rating from Red to Amber, awaiting further review: 3 case of KART14 variants causing NFJS, and PPK is listed as a phenotype of NFJS.

Created: 23 Mar 2017, 11:11 a.m.

PMID:16960809 (Lugassy et al. 2006) report 2 heterozygous KRT14 variants in 4 families with NFJS, including 3 UK families where the GLN7TER variant is likely to be a founder mutation.

Created: 23 Mar 2017, 11:09 a.m.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS; OMIM:161000) and dermatopathia pigmentosa reticularis (DPR; OMIM:125595) are 2 closely related autosomal dominant syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.

Created: 9 Jan 2017, 4:29 p.m.