Desanctis–Cacchione Syndrome

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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]

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]

References[edit | edit source]

↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome". www.orpha.net. Retrieved 11 October 2019.
↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
↑ ^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.
↑ ^4.0 ^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.
↑ "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

Metabolic disease: DNA replication and DNA repair-deficiency disorder

DNA replication

Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4

Termination/telomerase: DKC1
- Dyskeratosis congenita

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.

Categories: [Genodermatoses] [DNA replication and repair-deficiency disorders] [Rare syndromes] [Syndromes affecting the skin] [Syndromes affecting the eyes] [Syndromes affecting head size] [Syndromes with mental retardation] [Syndromes affecting the nervous system] [Syndromes affecting hearing]

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