Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant

被引：1

作者：

Adams, Paul C. ^{[1
]}

Horgan-Bell, Carolyn ^{[2
]}

Walsh, Scott ^{[3
]}

Sadikovic, Bekim ^{[4
,5
]}

机构：

[1] Western Univ, Univ Hosp, Dept Med, London, ON, Canada

[2] Wellington Dermatol Associates, London, ON, Canada

[3] Univ Toronto, Div Dermatol, Sunnybrook Hlth Sci Ctr, Toronto, ON, Canada

[4] Western Univ, Dept Pathol & Lab Med, London, ON, Canada

[5] London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON, Canada

来源：

CANADIAN LIVER JOURNAL | 2020年 / 3卷 / 02期

关键词：

BMP6; iron overload; porphyria cutanea tarda; PCT; Leu96Pro; MUTATIONS;

D O I：

10.3138/canlivj-2019-0018

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

A man aged 51 years was referred to dermatology for hand dermatitis. The dorsal hands and fingers had superficial erosions with pale pink shallow scars and milia suggestive of porphyria cutanea tarda (PCT). Urine and fecal studies were typical of PCT. The patient had daily alcohol use and was found to have elevated serum ferritin, aspartate aminotransferase, and alanine transaminase. Genetic testing for common hemochromatosis genetic variants (HFE C282Y and H63D) was normal. He underwent next-generation sequencing analysis using the 16-gene hyperferritinemia gene panel for genes known to be associated with hereditary hyperferritinemia, iron overload, or both and was discovered to have a genetic variant in bone morphogenetic 6 (BMP6, c.287T>C, p.Leu96Pro). The skin lesions improved with phlebotomy therapy.

引用

页码：232 / 234

页数：3

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