Hypermelanosis nevoid, striped and vertebral L81.4

Kalter et al. 1988

Rarely, both sexes are equally affected

Mosaic dermatosis with mutation of the KITLG gene located on chromosome 12q21.12-q22 (Sorlin A et al. 2017). The KIT ligand gene and its receptor kit control processes in hematopoiesis, melanogenesis and gametogenesis.

Manifestation within the first two years of life. Typical are linear or spiral, often also reticular brownish hyperpigmentations arranged in the Blaschko lines, in which no recognizable inflammatory phase precedes (distinction to Incontinentia pigmenti).

Systemic involvement associated with this cutaneous appearance is described: atrial septal defect, deafness, mental retardation, tooth, eye and skeletal changes, T-cell functional defects, blood eosinophilia and pseudohermaphroditism.

Incontinentia pigmenti; systematized epidermal nevus; nevus fuscocoeruleus deltoideoacromialis.

clinically it is the hypermelanotic counterpart of the naevus Ito.

1. Amyere M et al (2011) KITLG mutations cause familial progressive hyper- and hypopigmentation.
   J Invest Dermatol 131:1234-1239.
2. Hofmann U, Wagner N, Grimm T, Bröcker EB, Hamm H (1998) Linear and whorled nevoid hypermelanosis. Case report and review of the literature. dermatologist 49: 408-412
3. Megarbane A et al (2002) Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms. On J Med Genet 112: 95-98
4. Mendiratta V et al (2001) Linear and whorled nevoid hypermelanosis. J Dermatol 28: 58-59
5. Sorlin A et al (2017) Mosaicism for a KITLG mutation in Linear and Whorled Nevoid Hypermelanosis.
   J Invest Dermatol 137:1575-1578.