Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France
نویسندگان
چکیده
منابع مشابه
Down-regulation of hepcidin in porphyria cutanea tarda.
Hepatic siderosis is common in patients with porphyria cutanea tarda (PCT). Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the siderosis in approximately 20% patients, suggesting that the remaining occurrences result from additional genetic and environmental factors. Two genes known to modify iron loading in hh are hepcidin (HAMP) and hemojuvelin (HJV). To determine if muta...
متن کاملFamilial porphyria cutanea tarda.
Semiautomated Detection of Human Papifiomavirus DNA of High and Low Oncogenic Potential in Cervical Smears. George Terry, Linda Ho, Anne Szarewski, Jack Cuzick 1890 Immunoassay with Recombinant Trypanosoma cruzi Antigens Potentially Useful for Screening Donated Blood and Diagnosing Chagas Disease. Ana C. Pastini, Sergio R. Iglesias, Valentina C. Carri carte, Marcelo E. Guerin, Daniel 0. Sanchez...
متن کاملPorphyria cutanea tarda and melioidosis.
Porphyria cutanea tarda is a metabolic disorder in the haem biosynthetic pathway. It includes a heterogeneous group of conditions, which may be inherited or, more commonly, acquired. Although porphyria cutanea tarda presents with cutaneous lesions only, it is often associated with systemic disease. A 64-year-old Chinese patient, who developed sporadic porphyria cutanea tarda 1 year after the di...
متن کاملPhotodamage of the conjunctiva in patients with porphyria cutanea tarda.
Ninety two patients with porphyria cutanea tarda (PCT) were examined ophthalmically in a paired case control study. The incidence of pinguecula and of pterygium was 8 and 2 times higher respectively, in PCT patients than in the control group. The photodamage to the conjunctiva is considered to be a result of the photoactivity of uroporphyrin in the tissues.
متن کامل[Porphyria cutanea tarda and hemochromatosis in Spain].
To the Editor: We present the case of a 31-year-old woman with no relevant medical history, who consulted because of lesions on the backs of the hands related to minor traumas; the lesions worsened in the summer leaving residual hyperpigmentation (Figure). The patient had phototype III skin and displayed discrete hypertrichosis in the zygomatic areas. Photosensitive dermatosis was suspected and...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2011
ISSN: 0001-5555
DOI: 10.2340/00015555-0853