Results 41 to 50 of about 998 (161)
Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica [PDF]
, 2006 [cat] La Porfíria Cutània Tarda (PCT) és una malaltia metabòlica que afecta a la pell i al fetge i que és desencadenada per la interacció de múltiples factors que inclouen l´herència, l´alcohol, el VHC, els estrògens i alguns agents tòxics, entre d ...
Toll Abelló, Agustí
core
Persistent Beetroot Colored Urine in a Three‐Year‐Old Child: A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.Clinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Pauline Harper +2 more
wiley +1 more source
Journal of Cosmetic Dermatology, Volume 24, Issue 10, October 2025.ABSTRACT Introduction Enthusiasm for manicures is at a high amongst young populations and has led to a growth in nail cosmetology in the last decade. Reviewing the known nail and cutaneous adverse outcomes associated with manicures can improve counseling for safe usage. Aims To provide a comprehensive review of cutaneous disorders reported with various
Kiran Javaid +5 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 3, Page 371-373, September 2025.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.
Pedro Gabriel Dotto +4 more
wiley +1 more source
, 1995 Porphyria cutanea tarda is a disorder of porphyrin metabolism, of which familial and sporadic forms have been described. Factors such as iron seem necessary for porphyria cutanea tarda to become clinically manifest. To study the relationship between iron
Rademakers, L. H. +6 more
core +1 more source
Atypical porphyria cutanea tarda mimicking morphea
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2023 A 65-year-old man with a history of alcohol abuse presented with cicatricial alopecia and whitish sclerotic plaques in the upper chest, distributed mainly on the V area of the lower neck and lower sternum (Fig. 1).
Maria J. Guimarães +5 more
doaj
Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 4, July 2025.ABSTRACT Background/Objectives Individuals with photosensitivity diseases, including porphyria, face significant challenges in managing their condition due to heightened sensitivity to ultraviolet (UV) and visible light. Comprehensive photoprotection strategies are essential and prioritize environmental modifications, behavioral adjustments, protective
David Bajek +4 more
wiley +1 more source
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Case Reports in Genetics, 2020 Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino +6 more
doaj +1 more source
Alopecia Porphyrinica in a Patient with Chronic Hepatitis C
Acta Médica Portuguesa, 2022 N/a.
Stepanka Betkova +2 more
doaj +1 more source
eJHaem, Volume 6, Issue 3, June 2025.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.
Jowon L. Kim +3 more
wiley +1 more source