Clinical findings of the phakomatoses: Hypomelanosis of Ito
نویسندگان
چکیده
منابع مشابه
Hypomelanosis of Ito
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 ...
متن کاملA 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 کامل[Hypomelanosis of Ito - case report]
OBJECTIVES: The authors report a case of hypomelanosis of Ito (HI), a rare neurocutaneous syndrome with neurological and chromosomal alterations associated with cutaneous involvement and recurrent pneumonia. CASE REPORT: A male patient, age 1 year and 11 months, was admitted with bilateral bronchopneumonia to the São Vicente de Paulo Hospital. Examination revealed hypochromic maculas on the ski...
متن کاملIncontinentia pigmenti and hypomelanosis of Ito.
Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential component of the nuclear factor-kappa B (NF-κB) signaling pathway. Skin lesions are highly diagnostic, occurring in neonates, with a particular dis...
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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ژورنال
عنوان ژورنال: Neurology
سال: 2006
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000221748.71020.83