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. 2025 Jun 1;161(6):648-649.
doi: 10.1001/jamadermatol.2025.0306.

Congenital Erythropoietic Porphyria

Alba Álvarez-Abella  1 , Andrea Núñez-Conde  2 , Marco A Alba  2
Affiliations

Congenital Erythropoietic Porphyria

Alba Álvarez-Abella et al. JAMA Dermatol. .
No abstract available

Plain language summary

This case report describes thickened facial skin, microstomia, hypertrichosis, loss of facial features, gum hyperpigmentation, and erythrodontia, as well as severe and destructive photodistributed scarring, with loss of nails, resorption of the distal phalanges, and joint contractures.

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