Ichthyosis and erythrokeratoderma

Gene: SLURP1

Comment on phenotypes: Previous phenotypes:
keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300

Created: 23 Mar 2021, 3:45 p.m. | Last Modified: 23 Mar 2021, 3:45 p.m.

Panel Version: 1.51

Green List (high evidence)

One case report of heterozygous females with very mild phenotype

Created: 14 Mar 2017, 8:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diffuse palmoplantar keratoderma

Publications

• 25557416 24985918 24738704 24604124 23290002 21690549 19692209 19120323 17184264 16882192 16865292 15026760

Comment when marking as ready: Discussed with Helen Brittain who agrees with rating and both AR & AD mode of inheritance (with AR presentation associated with a more significant phenotype). Although including monoallelic inheritance may identify carrier status for a biallelic condition in some individuals, this is outweighed by potentially excluding mild cases if only biallelic inheritance were to be selected.

Created: 3 Apr 2017, 9:23 a.m.

Comment on list classification: Updated rating from Amber to Green: 1 green review and sufficient (many more than 3) cases supporting causation of Mal de Meleda (MIM:248300) with relevant PPK phenotype.

Created: 20 Mar 2017, 5:12 p.m.

Comment on mode of inheritance: The reviewer, Edel O'Toole, points out one case report where female carriers (heterozygotes) showed mild PPK (Mokni et al., 2004, PMID:14756676). Note that only female carriers shows symptoms. All other reported cases are biallelic, but in case mild cases are recruited, I updated MOI from 'biallelic' to 'both monoallelic and biallelic, with biallelic cases being more severe).

Created: 20 Mar 2017, 4:33 p.m.

Comment on list classification: Updated rating from Red to Amber ready for External review. Not a confirmed DD gene, but >3 cases of SLURP1 variants causing Mal de Meleda skin disorder (OMIM:248300).

Created: 10 Jan 2017, 4:32 p.m.

Mal de Meleda (OMIM:248300) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (Source = OMIM). >3 cases of SLURP1 variants reported for Mal de Meleda (OMIM:248300) from a range of populations, including Algerian, Tunisian, Croatian, Palestinian, Turkish and German.

Created: 10 Jan 2017, 4:31 p.m.