Palmoplantar keratoderma and erythrokeratodermasGene: SDR9C7
PMID:28173123 (Shigehara et al., 2016) report 3 consanguineous families with autosomal recessive congenital ichthyosis (ARCI) and homozygous mutations in SDR9C7. Affected individuals in all the three families have had dry skin with large scales on the whole body surface, hyperkeratosis over elbows and knees, palmoplantar keratoderma and recurrent dermatophytic infections of the skin and onychomycosis.
Created: 22 Jun 2017, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma); ARCI
Phenotypes for SDR9C7 were set to Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma); ARCI; Ichthyosis, congenital, autosomal recessive 13 617574
SDR9C7 was created by rfoulger
SDR9C7 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature