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[Porphyria cutanea tarda with sclerodermatous changes and hemochromatosis].
Hautarzt. 2014 Apr; 65(4):272-4.H

Abstract

A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.

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Authors+Show Affiliations

Wallaeys E
Hautklinik und European Porphyria Specialist Center, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Thierling U
No affiliation info available
Lang E
No affiliation info available
Neumann NJ
No affiliation info available
Frank J
No affiliation info available

MeSH

ChloroquineFemaleHemochromatosisHemochromatosis ProteinHistocompatibility Antigens Class IHumansMembrane ProteinsMiddle AgedMutationPorphyria Cutanea TardaScleroderma, Diffuse

Pub Type(s)

Case Reports
Journal Article

Language

ger

PubMed ID

24718503

Citation

Wallaeys, E, et al. "[Porphyria Cutanea Tarda With Sclerodermatous Changes and Hemochromatosis]." Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, vol. 65, no. 4, 2014, pp. 272-4.
Wallaeys E, Thierling U, Lang E, et al. [Porphyria cutanea tarda with sclerodermatous changes and hemochromatosis]. Hautarzt. 2014;65(4):272-4.
Wallaeys, E., Thierling, U., Lang, E., Neumann, N. J., & Frank, J. (2014). [Porphyria cutanea tarda with sclerodermatous changes and hemochromatosis]. Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 65(4), 272-4. https://doi.org/10.1007/s00105-014-2783-6
Wallaeys E, et al. [Porphyria Cutanea Tarda With Sclerodermatous Changes and Hemochromatosis]. Hautarzt. 2014;65(4):272-4. PubMed PMID: 24718503.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Porphyria cutanea tarda with sclerodermatous changes and hemochromatosis]. AU - Wallaeys,E, AU - Thierling,U, AU - Lang,E, AU - Neumann,N J, AU - Frank,J, PY - 2014/4/11/entrez PY - 2014/4/11/pubmed PY - 2014/12/19/medline SP - 272 EP - 4 JF - Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete JO - Hautarzt VL - 65 IS - 4 N2 - A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma. SN - 1432-1173 UR - https://www.unboundmedicine.com/medline/citation/24718503/[Porphyria_cutanea_tarda_with_sclerodermatous_changes_and_hemochromatosis]_ L2 - https://dx.doi.org/10.1007/s00105-014-2783-6 DB - PRIME DP - Unbound Medicine ER -