Results 11 to 20 of about 3,822 (163)

Porphyria cutanea tarda in a HIV- positive patient [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2016
: This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of
Valéria Aparecida Zanela Franzon   +3 more
doaj   +3 more sources

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda [PDF]

open access: yesMolecular Genetics and Metabolism Reports, 2020
Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases.
Alanna Strong   +2 more
doaj   +2 more sources

Porphyria cutanea tarda and systemic lupus erythematosus: a case report [PDF]

open access: yesJournal of Medical Case Reports
Background Systemic lupus erythematosus is characterized by multiorgan involvement and the presence of autoantibodies. Porphyria cutanea tarda is a condition that affects the liver and skin by downregulating and inhibiting the enzyme uroporphyrinogen ...
Jairo Cajamarca-Baron   +5 more
doaj   +2 more sources

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo [PDF]

open access: yesCase Reports in Dermatology, 2018
Porphyria cutanea tarda (PCT) is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma ...
Megan E. MacGillivray   +1 more
doaj   +2 more sources

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria? [PDF]

open access: yesClin Genet
We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD‐related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.
Dotto PG   +4 more
europepmc   +2 more sources

Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report. [PDF]

open access: yesEJHaem
ABSTRACT Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway. Altered iron homeostasis via hemochromatosis gene (HFE) mutations is one of many susceptibility factors associated with the sporadic form of PCT.
Kim JL, Crawford R, Lano IM, Merkeley H.
europepmc   +2 more sources

Treatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results. [PDF]

open access: yesJ Cosmet Dermatol
ABSTRACT Background Porphyria cutanea tarda (PCT) is the most common subtype of porphyria and results from a deficiency of the enzyme uroporphyrinogen decarboxylase. Even after successful treatment, patients can be left with significant scarring, and there is little published data on the safety and efficacy of light‐based or laser‐based therapies ...
Kesty CE, Kesty KR.
europepmc   +2 more sources

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil) [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2018
: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases.
Isabella Brasil Succi   +3 more
doaj   +1 more source

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