de Sanctis-Cacchione syndrome (xerodermic idiocy)

Pathology

• cerebral atrophy
• olivopontocerebellar atrophy
• associated neoplasms
  • squamous cell carcinoma of the skin
  • basal cell carcinoma)
  • melanoma
  • angioma
  • 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

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome
• neurologic disease

Patient information

de Sanctis-Cacchione syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/278800
• OMIM: https://mirror.omim.org/entry/133540