xeroderma pigmentosum group A

info · Syndrome · ICD-10: Q82.1

A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.

Signs and symptoms

Hypermelanotic macule
Distal sensory impairment
Mental deterioration
Cutaneous photosensitivity
Pes cavus
Squamous cell carcinoma of the skin
Verrucous epidermal nevus
Erythematous papule
Melanoma
Defective DNA repair after ultraviolet radiation damage

Also known as: XP group A; XP1; XPA; xeroderma pigmentosum 1; xeroderma pigmentosum complementation group A