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Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis

Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. He had persistently elevated alanine...

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Autores principales: Edwards, Mitchell V., Ray, Jennifer Michelle, Bacon, Bruce R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145215/
https://www.ncbi.nlm.nih.gov/pubmed/32309465
http://dx.doi.org/10.14309/crj.0000000000000247
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author Edwards, Mitchell V.
Ray, Jennifer Michelle
Bacon, Bruce R.
author_facet Edwards, Mitchell V.
Ray, Jennifer Michelle
Bacon, Bruce R.
author_sort Edwards, Mitchell V.
collection PubMed
description Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. He had persistently elevated alanine and aspartate transferase. He was referred to hematology and had genetic testing with iron studies which also revealed hereditary hemochromatosis (HH). Therapeutic phlebotomy was initiated, which led to resolution of iron overload and skin lesions. We highlight the associated conditions of PCT and HH, their common therapy of phlebotomy, and initial manifestations of HH.
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spelling pubmed-71452152020-04-17 Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis Edwards, Mitchell V. Ray, Jennifer Michelle Bacon, Bruce R. ACG Case Rep J Case Report Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. He had persistently elevated alanine and aspartate transferase. He was referred to hematology and had genetic testing with iron studies which also revealed hereditary hemochromatosis (HH). Therapeutic phlebotomy was initiated, which led to resolution of iron overload and skin lesions. We highlight the associated conditions of PCT and HH, their common therapy of phlebotomy, and initial manifestations of HH. Wolters Kluwer 2019-11-26 /pmc/articles/PMC7145215/ /pubmed/32309465 http://dx.doi.org/10.14309/crj.0000000000000247 Text en © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Edwards, Mitchell V.
Ray, Jennifer Michelle
Bacon, Bruce R.
Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title_full Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title_fullStr Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title_full_unstemmed Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title_short Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis
title_sort sporadic porphyria cutanea tarda as the initial manifestation of hereditary hemochromatosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145215/
https://www.ncbi.nlm.nih.gov/pubmed/32309465
http://dx.doi.org/10.14309/crj.0000000000000247
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