Hypomelanosis of Ito

• whirled, hypochromic lesions
• MR and seizures
• anatomic/musculoskeletal/GU dysmorphisms, congenital heart disease

Hypomelanosis of Ito (HI) syndrome is the presence of whirled hypochromic skin lesions often associated with systemic manifestations

• The typical skin lesions are demonstrated initially during the first year of life in up to 70% of patients; they are noticeable at birth in 54%. Rare cases are documented in which the lesions are not visible until mid childhood.

Features

Derm:

• Hypochromic lesions in distinctive patterns (eg, whirls, patches, streaks) characterize this syndrome; they often resemble whirled marble, following the lines of Blaschko. The lesions may be unilateral (46%) or bilateral, and they usually show a midline cutoff.
• unilateral skin lesions. They are contralateral to the side of brain malformation and may show a zigzag pattern of lines
• In children with fair skin, the use of a Wood lamp (ultraviolet light) is helpful in demonstrating these hypochromic lesions
• other nonspecific lesions, including cafe-au-lait

Neuro

• Neurological involvement is found in 76% of patients during the first decade of life. Mental retardation and seizures are the most common presenting symptoms.
• Approximately one fifth of patients present with ocular abnormalities.

Musculoskeletal

• Musculoskeletal abnormalities are rather common. Hemihypertrophy is found in one fifth of patients, usually ipsilaterally to hypomelanotic lesions.
• Arm and leg length discrepancy and scoliosis are reported.
• Anomalies of fingers and limbs

Head, face, cardiac and GU anomalies

reference:

from eMedicine.com: Hypomelanosis of Ito
Last Updated: April 17, 2002