DeSanctis-Cacchione syndrome
| Classification according to ICD-10 | |
|---|---|
| Q82.1 | Xeroderma pigmentosum |
| ICD-10 online (WHO version 2019) | |
The DeSanctis-Cacchione syndrome is a very rare, to the neurocutaneous diseases counted congenital disease with a combination of xeroderma pigmentosum and neurological changes . The term is considered outdated, the syndrome is a special form of xeroderma pigmentosum Type D considered.
Synonyms are: Xeroderma pigmentosum with neurological manifestations; DSC syndrome; Xeroderma with intellectual disability; Xerodermic idiocy; xerodermic idiocy syndrome .
The name refers to the first authors of the first description from 1932 by the Italian dermatologist Carlo DeSanctis and the doctor Aldo Cacchione .
distribution
The frequency is given as less than 1 in 1,000,000, the inheritance is probably autosomal - recessive .
root cause
The disease are mutations in ERCC6 - gene on chromosome 10 locus q11.23 basis which is encoded for the "Excision repair cross complementing rodent repair deficiency protein" that required in the DNA repair.
Clinical manifestations
Clinical criteria are:
- Xeroderma pigmentosum with hypersensitivity to light
- Intellectual disabilities , speech disorders, microcephaly
- Paresis , spastic paraplegia , cerebellar ataxia , olivopontocerebellar atrophy, areflexia , choreoathetosis
- Short stature
- Genital hypoplasia
Differential diagnosis
The following are to be distinguished:
Individual evidence
- ↑ a b c d Entry on DeSanctis-Cacchione syndrome in Flexikon , a Wiki of the DocCheck company
- ↑ De Sanctis-Cacchione Syndrome. In: Orphanet (Rare Disease Database).
- ^ Genetics Home Reference
- ↑ a b c Encyclopedia Dermatology
- ↑ C. de Sanctis, A. Cacchione: A. L'idiozia xerodermica. In: Rivista Sperimentale di Freniatria e Medicina Legale delle Alienazioni Mentali , Vol. 56, pp. 269-292, 1932.
- ^ De Sanctis-Cacchione syndrome. In: Online Mendelian Inheritance in Man . (English)
