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

• Main Authors: Ruggero Moro (Author), Antonella Fabiano (Author), Piergiacomo Calzavara-Pinton (Author), Jacopo Cardinale (Author), Giovanni Palumbo (Author), Silvia Giliani (Author), Gaetana Lanzi (Author), Francesca Antonelli (Author), Micaela De Simone (Author), Paola Martelli (Author), Elisa Fazzi (Author), Lorenzo Pinelli (Author), Giulio Gualdi (Author)
• Format: Book
• Published: Adis, Springer Healthcare, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 de...