Background The authors report a case of Hypomelanosis of Ito (HI), a rare neurocutaneous syndrome associated with musculoskeletal, neurological alteration and ophthalmologic abnormalities.
Methods A 9 month old girl was brought for evaluation of hypopigmented skin lesions and strabismus. Clinical examination revealed whirled hypochromic skin lesions only in the left side of the body (neck and trunk) following the lines of Blaschko, compatible with HI and hypotonia. She presents also: strabismus, genu valgus and pubis pilosity. She attained head control at 4 month and failure to sit without support.
Results The blood tests, hormonal tests, abdominal and cranial ultrasound were normal. Electroencephalogram revealed diffuse cortico-subcortical dysfunction. MRI of head was normal. Blood karyotyping showed mosaicism. Differential diagnosis: nevus depigmentosus, tuberous sclerosis, vitiligo. Treatment: no treatment for the cutaneous lesions. Appropriate specialty care for orthopaedic and visual problems.
Numerous complications have been associated with HI involving the central nervous system, musculoskeletal, ophthalmologic alteration and urogenital malformation.
Many chromosomal abnormalities have been reported in association with HI.
The prognosis of HI is determined by de associated abnormalities.