CONGENITAL ERYTHROPOETIC PORPHYRIA (HANDS)

Diagnosis: CONGENITAL ERYTHROPOETIC PORPHYRIA (HANDS)

Case submitted by Dr.Azeem Alam Khan to the dermRounds community.

Clinical Presentation

Clinical photograph(s) submitted for peer review and discussion.

Clinical History

Submitted by Dr.Azeem Alam Khan. Originally posted June 10, 2009.

Treatment

See case discussion.

Differential Diagnosis

• Porphyria cutanea tarda • Epidermolysis bullosa • Erythropoietic protoporphyria • Bullous pemphigoid

Key Learnings

• Also known as Günther disease — rarest porphyria, autosomal recessive • Deficiency of uroporphyrinogen III synthase (UROS) • Severe photosensitivity with vesicles, bullae, and scarring from infancy • Pink-red fluorescence of teeth (erythrodontia) and urine under Wood lamp • Mutilating scarring, hypertrichosis, hemolytic anemia • Red urine staining diapers may be first sign

Tags: congenital, erythropoetic, porphyria, hands, dr.azeem alam khan