De sanctis-cacchione syndrome Q82.12

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

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

History
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De Sanctis and Caccione, 1932

Definition
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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.

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Etiopathogenesis
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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 features
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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 diagnosis
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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.

Therapy
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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!

Literature
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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