Hypomelanosis of Ito: Multisystem neurocutaneous syndrome

Abstract

The choice of this case was to remember a rare disease that we hardly see in our clinical routine, to draw attention to the difficulty of professionals in reaching a correct and definitive diagnosis and to review the current literature on the pathology. The author aims to report a case of hypomelanosis of Ito (HI), a rare neurocutaneous syndrome, with neurological and chromosomal changes associated with skin involvement and recurrent pneumonia. This report refers to a female patient, 4 years and 4 months, seen at the Dermatology outpatient clinic of Hospital Menino Jesus. Upon examination, an extensive hypochromic macule was observed in the abdomen radiating to the back. In addition to delayed psychomotor development. The patient underwent EEG, MRI and cranial CT. The electroencephalogram showed benign childhood epilepsy. The cranial tomography and magnetic resonance imaging did not change. The author, with the present study, highlights that despite the rarity of the disease, it must be among the differential diagnoses of neuropediatric disorders that occur with skin alteration.