Palmoplantar keratoderma and erythrokeratodermas

Gene: KRT17

Comment when marking as ready: Rated as green by review plus >3 variants in OMIM, and mode of inheritance complete based on literature evidence.

Created: 5 Jan 2017, 3:52 p.m.

Comment on mode of inheritance: Changed the mode-of-inheritance to 'Both monoallelic and biallelic, with biallelic being more severe based on the two homozygous probands in PMID:22336949.

Created: 5 Jan 2017, 3:50 p.m.

Comment on list classification: Updated rating from Amber to green: 1 Green review plus >3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).

Created: 5 Jan 2017, 2:40 p.m.

>3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).

Created: 5 Jan 2017, 2:40 p.m.

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Created: 5 Jan 2017, 2:39 p.m.

Although homozygosity for dominant mutations in keratin genes is rare, PMID:22336949 (Wilson et al., 2012) present two families with a proband containing homozygous mutations in KRT17 (c.275A4G, p.Asn92Ser in Family 1 and c.280C4T, p.ARg94Cyc in Family 2). The features typical of Pachyonychia congenita (PC) were more severe in the homozygous cases than heterozygotes, and the additional feature of hair loss was seen in both cases.

Created: 5 Jan 2017, 2:39 p.m.

Green List (high evidence)

Two families reported with homozygous dominant mutations (both parents ? affected). More severe phenotype with alopecia. PMID:
22336949

Created: 16 Nov 2015, 8:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pachyonychia congenita; steatocystoma multiplex

Publications

• 7539673
• 9008238
• 15102078
• 19659471
• 22336949