DeSanctis–Cacchione syndrome

Other names| Xeroderma pigmentosum with neurologic manifestation[1]
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner

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]

## Contents

* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links

## Genetics

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

It can be associated with ERCC6.[4]

## Diagnosis

## Treatment

## See also

* Xeroderma pigmentosum
* List of cutaneous conditions

## References

1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1569.
2. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ↑ Colella, S.; Nardo, T.; Botta, E.; Lehmann, A. R.; Stefanini, M. (2000). "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. doi:10.1093/hmg/9.8.1171. PMID 10767341.
4. ↑ "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. doi:10.1093/hmg/9.8.1171. PMID 10767341.

## External links

Classification|

* OMIM: 278800
* MeSH: C535992
* DiseasesDB: 29880

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External resources|

* Orphanet: 1569

* v
* t
* e

Metabolic disease: DNA replication and DNA repair-deficiency disorder

DNA replication|

* Separation/initiation: RNASEH2A
* Aicardi–Goutières syndrome 4

* Termination/telomerase: DKC1
* Dyskeratosis congenita

DNA repair|

| Nucleotide excision repair|

* Cockayne syndrome/DeSanctis–Cacchione syndrome
* Thymine dimer
* Xeroderma pigmentosum
* IBIDS syndrome

|

MSI/DNA mismatch repair|

* Hereditary nonpolyposis colorectal cancer
* Muir–Torre syndrome
* Mismatch repair cancer syndrome

MRN complex|

* Ataxia telangiectasia
* Nijmegen breakage syndrome

Other|

* RecQ helicase
* Bloom syndrome
* Werner syndrome
* Rothmund–Thomson syndrome/Rapadilino syndrome
* Fanconi anemia
* Li-Fraumeni syndrome
* Severe combined immunodeficiency

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