DeSanctis–Cacchione syndrome

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

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

## Contents

* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links

## Signs and symptoms[edit | edit source]

Arm demonstrates hypochromic/ achromic, hyperchromic,lentiginous lesions

The clinical presentation of this condition is as follows:[3]

* Ataxia

* Conjunctivitis
* Photosensitive skin
* Ectropion
* Gonadal hypoplasia
* Hyporeflexia

## Genetics[edit | edit source]

In at least some case, the gene lesion involves a mutation in the CSB gene.[4]

It can be associated with ERCC6.[4]

## Diagnosis[edit | edit source]

The diagnosis of DeSanctis–Cacchione syndrome is done via the following:[3]

* Medical exam
* Medical history
* Lab test
* Genetic test

## Treatment[edit | edit source]

Management revolves around protection from sunlight so as to not have other complications (skin cancers).[5]

## See also[edit | edit source]

* Xeroderma pigmentosum
* List of cutaneous conditions

## References[edit | edit source]

1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome". www.orpha.net. Retrieved 11 October 2019.
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. ↑ 3.0 3.1 "De Sanctis-Cacchione syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 17 April 2021. Retrieved 10 December 2021.
4. ↑ 4.0 4.1 Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M (May 2000). "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. doi:10.1093/hmg/9.8.1171. PMID 10767341.
5. ↑ "De Sanctis Cacchione Syndrome". NORD (National Organization for Rare Disorders). Retrieved 10 December 2021.`{{cite web}}`: CS1 maint: url-status (link)

## External links[edit | edit source]

Classification|

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

|

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

This dermatology article is a stub. You can help MDWiki by expanding it.

|

* v
* t
* e

*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template