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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Springer Healthcare 2019
Fag:
Case Report
Online adgang: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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