Ichthyosis and erythrokeratoderma

Gene: MBTPS2

In an uncle and nephew from a consanguineous Iranian family with alopecia universalis and severe palmoplantar keratoderma with involvement of periorificial and extensor surfaces and onychodystrophy (Olmsted syndrome, X-linked; MIM:300918), Haghighi et al. (2013, PMID:22931912) identified a c.1391T-C transition in the MBTPS2 gene (F464S).

Created: 3 Jul 2017, 11:50 a.m.

PMID:24313295 (Wang et al., 2014) studied a Chinese-Han male proband. Non-scarring total alopecia was present since birth and Palmoplantar keratoderma extended to involve the dorsa of the palms and soles. The proband had a hemizygous splice-site variant in MBTPS2 gene (c.671-9T>G), which was heterozygous in his mother (who had milder symptoms), consistent with XLR inheritance.

Created: 3 Jul 2017, 11:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma; Olmsted syndrome, X-linked, 300918; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)

Publications

• 24313295
• 22931912