Hypomelanosis of Ito
نویسندگان
چکیده
Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome.
منابع مشابه
A Case Study of Hypomelanosis of Ito
Among nevoid causes of hypopigmentations; incontinentia pigmenti achromians (Hypomelanosis of Ito) is a neurocutaneous syndromes characterized by distinctive macular, linear or irregular whorls or swirls of Hypopigmentations. Unrelated to incontinentia pigmenti, the loss of pigment begins spontaneously during infancy or early childhood and is of Particular importance because of the falt that m...
متن کاملHypomelanosis of Ito with a trisomy 2 mosaicism: a case report
INTRODUCTION Hypomelanosis of Ito is a rare neurocutaneous disorder, characterized by streaks and swirls of hypopigmentation following the lines of Blaschko that may be associated to systemic abnormalities involving the central nervous system and musculoskeletal system. Despite the preponderance of reported sporadic hypomelanosis of Ito, few reports of familial hypomelanosis of Ito have been de...
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Del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatric Dermatol 1992; 9: 1–10 2. David TJ. Hypomelanosis of Ito: a neurocutaneous syndrome. Arch Dis Child 1981; 56: 798–800 3. Coward RJM, Risdon RA, Bingham C, Hattersley AT, Woolf AS. Kidney disease in hypomelanosis of Ito. Nephrol Dial Transplant 2001; 16: 1267–1269 4. Chevalier C, Colon S, Faraj G, Bouvier...
متن کاملHypomelanosis of Ito: a manifestation of mosaicism or chimerism.
We describe three patients with the cutaneous manifestations of hypomelanosis of Ito. Two, with unusual abnormalities of their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts. The published clinical descriptions of hypomelanosis of Ito and diploid-triploid mosaicism are reviewed. Chromosome heteromorphisms, HLA types, and DNA fingerprints were studied in an attemp...
متن کاملHypomelanosis of Ito: report of two cases.
Hypomelanosis of Ito is an uncommon syndrome where bizarre, systematized hypopigmentation is often associated with neurological and other non-cutaneous abnormalities. We report two cases, one which was associated with laryngomalacia and sudden death (in which the parents were consanguineous), and one which was associated with episodes of loss of consciousness.
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