Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?
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...
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Adis, Springer Healthcare,
2019-11-01T00:00:00Z.
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| 042 | |a dc | ||
| 100 | 1 | 0 | |a Ruggero Moro |e author |
| 700 | 1 | 0 | |a Antonella Fabiano |e author |
| 700 | 1 | 0 | |a Piergiacomo Calzavara-Pinton |e author |
| 700 | 1 | 0 | |a Jacopo Cardinale |e author |
| 700 | 1 | 0 | |a Giovanni Palumbo |e author |
| 700 | 1 | 0 | |a Silvia Giliani |e author |
| 700 | 1 | 0 | |a Gaetana Lanzi |e author |
| 700 | 1 | 0 | |a Francesca Antonelli |e author |
| 700 | 1 | 0 | |a Micaela De Simone |e author |
| 700 | 1 | 0 | |a Paola Martelli |e author |
| 700 | 1 | 0 | |a Elisa Fazzi |e author |
| 700 | 1 | 0 | |a Lorenzo Pinelli |e author |
| 700 | 1 | 0 | |a Giulio Gualdi |e author |
| 245 | 0 | 0 | |a Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations? |
| 260 | |b Adis, Springer Healthcare, |c 2019-11-01T00:00:00Z. | ||
| 500 | |a 10.1007/s13555-019-00336-z | ||
| 500 | |a 2193-8210 | ||
| 500 | |a 2190-9172 | ||
| 520 | |a 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 deletion), Klinefelter syndrome karyotype (47 XXY), and random X inactivation. This is in accordance with the severity of involvement of the affected tissues (skin, central nervous system, and retina). Indeed, the patient developed typical skin lesions all over the body, except the head. Equally, multiple lesions diffusely involving both the cortical grey matter and subcortical white matter of the cerebellum and cerebral hemispheres were observed. Discussing current knowledge about the etiopathogenesis of skin and brain lesions in incontinentia pigmenti, our case seems to support the proapoptotic origin of central nervous system involvement. Possibly, incontinentia pigmenti patients suffer an impaired protection against apoptosis at the level of cerebral endothelial cells of small vessels, leading to vascular damage and subsequent ischemic brain lesions. | ||
| 546 | |a EN | ||
| 690 | |a Aplasia cutis | ||
| 690 | |a Incontinentia pigmenti | ||
| 690 | |a Klinefelter syndrome | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Dermatology and Therapy, Vol 10, Iss 1, Pp 213-220 (2019) | |
| 787 | 0 | |n http://link.springer.com/article/10.1007/s13555-019-00336-z | |
| 787 | 0 | |n https://doaj.org/toc/2193-8210 | |
| 787 | 0 | |n https://doaj.org/toc/2190-9172 | |
| 856 | 4 | 1 | |u https://doaj.org/article/9aac1d1be88b43d6ac27d4dd9e9083b5 |z Connect to this object online. |