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- W1930364120 abstract "Incontinentia pigmenti is a rare, X-linked genetic disease and affects all ectoderm-derived tissues such as skin, appendages, eyes, teeth and central nervous system as well as disorders of varying degree of cellular immunity characterized by decreasing melanin in the epidermis and increase in the dermis. When the condition occurs in males, it is lethal.We present the case of a 2-month-old infant with severe incontinentia pigmenti confirmed by histological examination of skin biopsy. The condition evolved with severe neurological disorders and seizures along with severe cellular immune deficiency, which affected the development of severe infections and caused the death of the patient.The importance of early clinical diagnosis is highlighted along with the importance of multidisciplinary management of neurological disorders and infectious complications." @default.
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- W1930364120 date "2015-09-01" @default.
- W1930364120 modified "2023-10-16" @default.
- W1930364120 title "Incontinencia pigmenti con defecto en la inmunidad celular" @default.
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- W1930364120 doi "https://doi.org/10.1016/j.bmhimx.2015.08.003" @default.
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