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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Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: Springer Healthcare 2019
Teme:
Case Report
Online dostop: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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