HYPOMELANOSIS OF ITO – CLINICAL CASE

Abstract

Hypomelanosis of Ito (HOI), also known as pigmentary mosaicism, is a rare, sporadic neurocutaneous disorder characterized by linear hypopigmented patches distributed along the lines of Blaschko and involving at least two body segments. Cutaneous changes are typically evident at birth or in early childhood. HOI is marked by multisystem involvement, most commonly affecting the central nervous system and the musculoskeletal system.

The diagnosis is primarily clinical and is based on recognizing the characteristic cutaneous morphology as well as identifying associated systemic manifestations such as intellectual disability, epilepsy, hypotonia, scoliosis, limb asymmetry, strabismus, coloboma, and dental anomalies. When necessary, diagnostic clarification may be supported by chromosomal studies, including karyotyping of peripheral blood lymphocytes or genetic analysis of fibroblasts obtained from affected skin.

This article presents a clinical case of Hypomelanosis of Ito in a 6-year-old child who is a carrier of thalassemia, further highlighting the multifactorial nature of the condition and its diagnostic significance.