Xeroderma Pigmentosum (2nd stage)

Diagnosis: Xeroderma Pigmentosum (2nd stage)

Skin atrophy, telangiectasias, and mottled hyperpigmentation and hypopigmentation.

Clinical Presentation

Skin atrophy, telangiectasias, and mottled hyperpigmentation and hypopigmentation.

Clinical History

Submitted by Alaa Saad. Originally posted October 17, 2010.

Treatment

See case discussion.

Differential Diagnosis

• Chronic photodamage • Cockayne syndrome • Trichothiodystrophy • Bloom syndrome • Rothmund-Thomson syndrome • Multiple skin cancers (immunosuppression)

Key Learnings

• Autosomal recessive DNA repair disorder — defective nucleotide excision repair (NER) • Extreme sensitivity to UV radiation with >1000× increased risk of skin cancer • Skin cancers develop by age 8 (median) — BCC, SCC, melanoma • 8 complementation groups (XPA-XPG + variant) • Neurological deterioration in some subtypes (XPA, XPB, XPD, XPG) • Life expectancy significantly reduced without strict UV protection • Diagnosis confirmed by unscheduled DNA synthesis (UDS) assay or gene sequencing

Tags: xeroderma, pigmentosum, 2nd, stage, alaa saad