Xeroderma Pigmentosum (3rd stage)

Diagnosis: Xeroderma Pigmentosum (3rd stage)

Diffuse erythema, scaling and freckle-like areas of increased pigmentation, associated with appearance of numerous skin malignancies and eye affection

Clinical Presentation

Diffuse erythema, scaling and freckle-like areas of increased pigmentation, associated with appearance of numerous skin malignancies and eye affection

Clinical History

Submitted by Alaa Saad. Originally posted October 25, 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, 3rd, stage, alaa saad