De sanctis-cacchione syndromeQ82.12
Synonym(s)
DSC Syndrome; Idiocy; Idiocy xeroderma; Idiocy xerodermatic; Idiocy xerodermic; Idioty syndrome xeroderma; xeroderma; xeroderma avec retard mental; Xeroderma with mental retardation; xerodermic idiocy; xerodermic idiocy syndrome; xérodermique idiocy
HistoryThis section has been translated automatically.
De Sanctis and Caccione, 1932
DefinitionThis section has been translated automatically.
Combination of Xeroderma pigmentosum group A, proportional dwarfism, hypogonadism, hereditary spinal ataxia and oligophrenia. Porphyrin metabolic disorder, central nervous failure symptoms as in Friedreich's ataxia. In the x-ray mostly small sella turcica.
EtiopathogenesisThis section has been translated automatically.
Probably autosomal recessive hereditary defects of the ERCC6 gene (Excision repair cross complementing rodent repair deficiency gene; gene locus: 10q11). Pathogenetically, there is a DNA synthesis disorder after UV irradiation; the connection with the neurological symptoms is not fully understood. A faster neuron degeneration in individuals with a defect in the DNA repair mechanism is discussed.
Clinical featuresThis section has been translated automatically.
- Dermatologically: Xeroderma pigmentosum with hypersensitivity to light.
- Neurological symptoms: Mental retardation of varying degrees, progressive; speech disorders; paresis; spastic paralysis; cerebellar ataxia; olivopontic atrophy; areflexia; choreoathetosis; sensory disturbance (occasionally). Microcephaly; short stature. Hypoplastic genitals; decreased 17-ketosteroid and 17-hydrocorticosteroid levels (occasionally).
- EEG: diffuse anomalies, spasm potentials.
Differential diagnosisThis section has been translated automatically.
Ichthyosiform dermatoses of other genesis: Sjögren-Larson syndrome; Refsum syndrome; other minor forms with mental retardation and skin abnormalities: Bloom syndrome; Hartnup syndrome; von-Rothmund syndrome.
TherapyThis section has been translated automatically.
Mainly neurological clinical picture. Dermatological: Education of the family about the observance of a consistent light protection (e.g. Anthelios L/XL), as far as possible change of the day/night rhythm. Regular tumour screening, if necessary prophylactic (carcinoprotective) intake of acitretin (neotigason dosage 20-50 mg/day).
Cave! Strict indication and monitoring of bone growth with retinoid administration in childhood!
LiteratureThis section has been translated automatically.
- Arase S, Bohnert E, Fischer E, Jung EG (1985) Prenatal exclusion of xeroderma pigmentosum (XP-D) by amniotic cell analysis. Photodermatology 2: 181-183
- Berneburg M, Krutmann J (2003) Xeroderma pigmentosum and related syndromes. dermatologist 54: 33-40
- The Kaloustian VM, De Weerd-Kastelein EA, Kleijer WJ et al (1974) The genetic defect in the de Sanctis-Cacchione syndrome. J Invest Dermatol 63: 392-396
- De Sanctis C, Caccione A (1932) L'idiozia xerodermica. Riv barrier Freniat 56: 269-292
- Jung EG (1986) Xeroderma Pigmentosum. Int J Dermatol 25: 629-633
- Niederauer HH et al (1992) De Sanctis-Caccione syndrome: Xeroderma pigmentosum with oligophrenia, short stature and neurological disorders. Dermatologist 43: 25-27
- Rajul L, Adam BA (1974) Xerodermic idiocy in identical twins. J Med Genet 11: 382-410
- Reed WB, Landing B, Sugarman G et al (1969) Xeroderma pigmentosum. Clinical and laboratory investigation of the basic defect. JAMA 207: 2073-2079
- Reed WB, May SB, Nickel WR (1965) Xeroderma pigmentosum with neurological complications. Arch Dermatol 91: 224-226
- Robbins JH, Kraemer KH, Lutzner MA et al (1974) Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasm, and abnormal DNA repair. Ann Intern Med 80: 221-248