Conditions / Syndrome
xeroderma pigmentosum group E
info · Syndrome · ICD-10: Q82.1
A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
Signs and symptoms
- Melanoma
- Cutaneous photosensitivity
- Defective DNA repair after ultraviolet radiation damage
- Dermal atrophy
- Keratitis
- Squamous cell carcinoma of the skin
- Basal cell carcinoma
- Conjunctivitis
- Photophobia
- Telangiectasia
Also known as: XP group E; XP5; XPE; xeroderma pigmentosum V