xeroderma pigmentosum variant type

info · Syndrome · ICD-10: Q82.1

A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.

Signs and symptoms

Cutaneous photosensitivity
Cutaneous telangiectasia
Freckles in sun-exposed areas
Dermal atrophy
Keratitis
Conjunctivitis
Photophobia
Ectropion
Poikiloderma
Entropion

Also known as: XPV; photosensitivity with defective DNA synthesis; xeroderma pigmentosum with normal DNA repair rates