Universidad Médica Pinareña (May 2020)
Hypomelanosis of Ito: case report
Abstract
Introduction: hypomelanosis of Ito is a neurocutaneous syndrome and a multisystem disorder, described by Japanese dermatologist Minor Ito in 1951. This disease is characterized by hypopigmented lesions of linear or annular distribution on the skin, associated or not with neurological and ocular manifestations, as well as dental and musculoskeletal malformations. Case report: 12-year-old male patient, son of young non-blood parents with a family history of vagal crises, personality disorders and epileptic seizures in childhood. Personal pathological history included right unilateral appendageal since birth, spasms during sleep at 3 months, joint hyperlaxity and hypotonia at one year, delayed psychomotor development, focal temporal lobe and tonic-clonic epilepsy seizures at 10 years old, diagnosis of right pectoral agenesis at 1 year old and bilateral pyelectasis. He attended the Provincial Clinical Genetics Service referred by the Dermatology Clinic for presenting hypopigmented macules in the upper right limb, accompanied by the neurological, musculoskeletal and genitourinary signs described above. Taking into account the international criteria based on cutaneous and extra cutaneous manifestations, hypomelanosis of Ito was diagnosed. Conclusions: hypomelanosis of Ito is a rare, multisystem disorder, with a fundamental clinical diagnosis. Early diagnosis is essential in order to provide a timely treatment, as well as knowing the forms of presentation and manifestations, achieving a better quality of life for the patient.
