Hypomelanotic macule


Normal Case/Contol

GWAS of 0009719

Sibling Case/Control

No sibling GWAS available 0009719


Case Control
292 459902

Phenotype Definition

Hypomelanotic macules (\ash leaf spots\) are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. [HPO:probinson, PMID:10695583]

Phenotype Comment

While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin.

Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: A418 Other specified septicaemia 14/20