The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple congenital anomalies including facial dysmorphism, skin hypopigmentation, musculoskeletal, and nervous system abnormalities. The latter manifested as hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation. The facial phenotype coupled with the bilateral globus pallidi lesions were never been reported in association with HI. Thus, our patient represents a possible novel example of HI.
Key words: Brain iron accumulation; Hypomelanosis of Ito; Neurocutaneous syndrome
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