[MIM 179 850, 615 327, 615 674, 615 696]

(reticulated flexures Dermatosis)

Rare. Autosomal dominant transmission of a pigmentary genodermatosis.

Complex genetic origin:

-        type 1: mutation of KPT5 gene (12q13.13) [MIM 179 850]

-        type 2: mutation of POFUT1 gene  (20q11) [MIM 615 327]

-        type 3: mutation on 17p33.3 [MIM 615 674]

-        type 4: mutation of POGLUT1 gene (3q13) [MIM 615 696].

Reticular pigmentation (hyperpigmentation) that appears at the level of the flexures during adolescence. There are generalized forms  with hypopigmented or erythematous spots at the level of the neck, the thorax and the abdomen.

This affection is sometimes associated with the Verneuil disease.

Anesthetic implications:

none

References :

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Updated: July 2017