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Manifestations and treatment of the hand in adult congenital erythropoietic porphyria


Fostvedt, Sigrid; Bruinsma, Wendy E; Neuhaus, Valentin; Stone, John H; Mudgal, Chaitanya S (2013). Manifestations and treatment of the hand in adult congenital erythropoietic porphyria. Journal of Clinical Rheumatology, 19(7):402-404.

Abstract

Congenital erythropoietic porphyria (CEP) is a rare enzymatic disorder of heme metabolism, leading to the accumulation of porphyrins in the skin and subdermal structures. We present the case of a 34-year-old, right-hand-dominant, male patient with CEP. The patient had developed a chronic open subluxation of the left index finger proximal interphalangeal joint due to skin necrosis. We successfully treated the patient with proximal interphalangeal arthrodesis. This case demonstrates that childhood-onset CEP can also manifest in the adult hand. Considering the patient's age, the destructive nature of the disease, and the poor quality of function in older patients with childhood CEP, surgical intervention was necessary to avoid further digital length loss. Although the treatment described in this case report is not uncommon, we found it essential to present this case because the clinical presentation of CEP is rare.

Congenital erythropoietic porphyria (CEP) is a rare enzymatic disorder of heme metabolism, leading to the accumulation of porphyrins in the skin and subdermal structures. We present the case of a 34-year-old, right-hand-dominant, male patient with CEP. The patient had developed a chronic open subluxation of the left index finger proximal interphalangeal joint due to skin necrosis. We successfully treated the patient with proximal interphalangeal arthrodesis. This case demonstrates that childhood-onset CEP can also manifest in the adult hand. Considering the patient's age, the destructive nature of the disease, and the poor quality of function in older patients with childhood CEP, surgical intervention was necessary to avoid further digital length loss. Although the treatment described in this case report is not uncommon, we found it essential to present this case because the clinical presentation of CEP is rare.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Trauma Surgery
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:October 2013
Deposited On:29 Nov 2013 15:36
Last Modified:05 Apr 2016 17:12
Publisher:Lippincott, Williams & Wilkins
ISSN:1076-1608
Publisher DOI:https://doi.org/10.1097/RHU.0b013e3182a70073
PubMed ID:24048109

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