Xeroderma Pigmentosum with Severe Neurological ManifestationsDe Sanctis–Cacchione Syndrome and a Novel XPC Mutation
Joint Authors
Hernandez-Quiceno, Sara
Cock-Rada, Alicia María
Bojanini, Esteban Uribe
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-02-01
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy.
Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes.
Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis.
Very few cases of DSC syndrome have been reported in the literature.
We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers.
He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC.
Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T).
This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome.
Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.
American Psychological Association (APA)
Bojanini, Esteban Uribe& Hernandez-Quiceno, Sara& Cock-Rada, Alicia María. 2017. Xeroderma Pigmentosum with Severe Neurological ManifestationsDe Sanctis–Cacchione Syndrome and a Novel XPC Mutation. Case Reports in Medicine،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1146842
Modern Language Association (MLA)
Bojanini, Esteban Uribe…[et al.]. Xeroderma Pigmentosum with Severe Neurological ManifestationsDe Sanctis–Cacchione Syndrome and a Novel XPC Mutation. Case Reports in Medicine No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1146842
American Medical Association (AMA)
Bojanini, Esteban Uribe& Hernandez-Quiceno, Sara& Cock-Rada, Alicia María. Xeroderma Pigmentosum with Severe Neurological ManifestationsDe Sanctis–Cacchione Syndrome and a Novel XPC Mutation. Case Reports in Medicine. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1146842
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1146842