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Austin Pediatr. 2016; 3(2): 1032.
Hypomelanosis of Ito
Fonseca J, Oliveira K and Leite AL*
Department of Pediatrics, Hospital Centre of Vila Nova de Gaia / Espinho, Vila Nova de Gaia, Portugal
*Corresponding author: Leite AL, Department of Pediatrics, Hospital Centre of Vila Nova de Gaia / Espinho, Rua Dr. Francisco Sá Carneiro, 4400-129, Vila Nova de Gaia, Portugal
Received: June 06, 2016; Accepted: June 09, 2016; Published: June 13, 2016
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We present a case of 12-year-old girl with deficits in attention, motor control and perception, mild mental impairment, thoracolumbar scoliosis, hemihypertrophy and dysmetry of the left lower extremity. For obesity and skin lesions was referred to pediatric endocrinology consultation. Physical examination revealed hypo pigmented macular lesions in streaks and whorls distributed over the trunk, upper and lower limbs of the left side of the body, corresponding to the lines of Blaschko, from birth (Figure 1,2). Cutaneous findings, along with musculoskeletal and neurological symptoms were suggestive of the diagnosis of Hypomelanosis of Ito (HI). EEG showed slower theta activity. MRI brain revealed dilatations of the Virchow-Robin spaces, which is a relatively common abnormality in the HI.
Originally described as a purely cutaneous disease, subsequent reports have included association with multiple extra cutaneous manifestations mostly of the central nervous and musculoskeletal systems leading to frequent characterization as a neurocutaneous disorder.
The importance of this case relates to the recognition of the skin typical guiding diagnosis aspect, orienting the study and subsequent follow-up.
Figure 1: Hemihypertrophy of the left lower extremity with hypo pigmented
macular lesions in streaks and whorls.
Figure 2: Hypo pigmented macular lesions in streaks and patches over the
left side of the body.
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