Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

We report a rare case of a newborn male affected by incontinentia pigmenti, Klinefelter syndrome, and aplasia cutis congenita, who developed severe cutaneous, neurological, and ophthalmological manifestations. Genetic analysis showed the presence of the common mutation of NEMO (exon 4–10 deletion),...

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Detalhes bibliográficos
Publicado no:Dermatol Ther (Heidelb)
Main Authors: Moro, Ruggero, Fabiano, Antonella, Calzavara-Pinton, Piergiacomo, Cardinale, Jacopo, Palumbo, Giovanni, Giliani, Silvia, Lanzi, Gaetana, Antonelli, Francesca, De Simone, Micaela, Martelli, Paola, Fazzi, Elisa, Pinelli, Lorenzo, Gualdi, Giulio
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Healthcare 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6994639/
https://ncbi.nlm.nih.gov/pubmed/31691923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13555-019-00336-z
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