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[The cutaneous porphyrias].
Ann Dermatol Venereol. 2019 Feb; 146(2):143-159.AD

Abstract

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acute cutaneous porphyrias (erythropoietic protoporphyria and X-linked dominant protoporphyria), and rare recessive porphyrias (congenital erythropoietic porphyria, Doss porphyria, hepatoerythropoietic porphyria and harderoporphyria). Treatment depends on the clinical expression of the disorder.

Authors+Show Affiliations

Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address: jfcuny57@yahoo.fr.

Pub Type(s)

Journal Article
Review

Language

fre

PubMed ID

30709634

Citation

Cuny, J-F. "[The Cutaneous Porphyrias]." Annales De Dermatologie Et De Venereologie, vol. 146, no. 2, 2019, pp. 143-159.
Cuny JF. [The cutaneous porphyrias]. Ann Dermatol Venereol. 2019;146(2):143-159.
Cuny, J. F. (2019). [The cutaneous porphyrias]. Annales De Dermatologie Et De Venereologie, 146(2), 143-159. https://doi.org/10.1016/j.annder.2018.12.005
Cuny JF. [The Cutaneous Porphyrias]. Ann Dermatol Venereol. 2019;146(2):143-159. PubMed PMID: 30709634.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The cutaneous porphyrias]. A1 - Cuny,J-F, Y1 - 2019/01/30/ PY - 2019/2/3/pubmed PY - 2019/11/16/medline PY - 2019/2/3/entrez KW - Erythropoietic protoporphyria KW - Porphyria KW - Porphyria cutanea tarda KW - Porphyria variegata KW - Porphyrie KW - Porphyrie cutanée tardive KW - Porphyrie variegata KW - Protoporphyrie érythropoïétique SP - 143 EP - 159 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 146 IS - 2 N2 - The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acute cutaneous porphyrias (erythropoietic protoporphyria and X-linked dominant protoporphyria), and rare recessive porphyrias (congenital erythropoietic porphyria, Doss porphyria, hepatoerythropoietic porphyria and harderoporphyria). Treatment depends on the clinical expression of the disorder. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/30709634/[The_cutaneous_porphyrias]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0151-9638(18)31348-6 DB - PRIME DP - Unbound Medicine ER -