lemocromatosi

Lemocromatosi is a rare genetic pigmentation disorder first described in the early 1990s. It is inherited in an autosomal recessive pattern and is caused by mutations in the SLC45A2 gene, which encodes a transporter protein involved in melanosomal pH regulation. The defect leads to misprocessing of melanin precursors and results in a diffuse, irregular mottled discoloration of the skin, hair, and mucous membranes. The pigmentation typically appears after infancy, often becoming more apparent during adolescence when hormonal changes influence melanocyte activity.

Key clinical features include paleness of the skin relative to surrounding tissue, subtle yellow‑ish or greenish hues, and absence of hyperpigmented macules or hypertrichosis commonly seen in other pigmentary disorders. Some patients report mild psychosocial distress related to cosmetic concerns, but the condition is usually benign with no systemic involvement. Occasional reports describe the growth of lipomas but these are considered incidental findings.

Diagnostic evaluation relies on clinical examination supplemented by skin biopsy, which typically shows irregular melanin deposition within the basal layer, with no melanocytic proliferation. Genetic testing demonstrating pathogenic variants in SLC45A2 confirms the diagnosis. Differential diagnosis includes iron deficiency anemias, albinism variants, and other pigmentary disorders such as piebaldism.

Management is supportive, with options for cosmetic camouflage using makeup, sunscreen, or topical depigmenting agents if desired. Patients are advised to maintain regular follow‑up with dermatology for monitoring of skin changes and psychological counseling when requested. The overall prognosis is excellent, with no known complications or increased morbidity associated with lemocromatosi.