de Sanctis-Cacchione syndrome (xerodermic idiocy)

Pathology: - cerebral atrophy - olivopontocerebellar atrophy - associated neoplasms a) squamous cell carcinoma of the skin b) basal cell carcinoma) c) melanoma d) angioma e) keratoacanthoma Genetics: - phenotype may be displayed by patients with any form of xeroderma pigmentosum although most commonly occurs with complementation group D - associated with defects in ERCC6 Clinical manifestations: - xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia & sometimes neurologic complications - other features: - photosensitivity, photophobia - skin atrophy - telangiectasia - actinic keratoses - conjunctivitis - keratitis - ectropion - entropion - microcephaly - hyporeflexia - spasticity - areflexia - ataxia - choreoathetosis - dwarfism

General

hereditary neoplastic syndrome; cancer susceptibility syndrome neurologic disease

Properties

ASSOCIATED-NEOPLASM[S]: squamous cell carcinoma of the skin basal cell carcinoma melanoma vascular tissue neoplasm keratoacanthoma (KA)