DeSanctis–Cacchione syndrome explained

DeSanctis–Cacchione syndrome
Synonyms:	Xeroderma pigmentosum with neurologic manifestation^[1]
Field:	Medical genetics

DeSanctis–Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.^[2]

Genetics

In at least some case, the gene lesion involves a mutation in the CSB gene.^[3]

It can be associated with ERCC6.^[4]

See also

• Xeroderma pigmentosum
• List of cutaneous conditions

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: De Sanctis Cacchione syndrome . www.orpha.net . 11 October 2019 . en.
2. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
3. 10.1093/hmg/9.8.1171. 10767341. Identical mutations in the CSB gene associated with either Cockayne syndrome or the de Sanctis-Cacchione variant of xeroderma pigmentosum. Human Molecular Genetics. 9. 8. 1171–1175. 2000. Colella. S.. Nardo. T.. Botta. E.. Lehmann. A. R.. Stefanini. M.. free.
4. Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M . Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum . Hum. Mol. Genet. . 9 . 8 . 1171–5 . May 2000 . 10767341 . 10.1093/hmg/9.8.1171. free .