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Milia within resolving bullous pemphigoid lesions.
Dermatol Online J
August 2024
Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia.
Bullous pemphigoid is an autoimmune blistering disease that is characterized by pruritus, cutaneous urticarial plaques, and tense bullae, with mucosal involvement. On histopathology, a subepidermal blister is predominantly evident with eosinophilic inflammatory infiltrates in the upper dermis. In a few bullous dermatoses, milia can manifest at the scar of blistering lesions or in non-lesional skin.
View Article and Find Full Text PDFPorphyria cutanea tarda: a unique iron-related disorder.
Hematology Am Soc Hematol Educ Program
December 2024
Harvard Medical School, Boston, MA.
The porphyrias are a group of disorders of heme biosynthesis, each characterized by an enzymatic defect in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT) arises due to the inhibition of uroporphyrinogen decarboxylase (UROD) in the presence of hepatic iron and oxidative stress. Most patients with PCT have evidence of siderosis on liver biopsy, and the disease resolves with iron depletion.
View Article and Find Full Text PDFPorphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.
Cureus
November 2024
Division of Hematology and Oncology, Sidney Health Center Cancer Care, Sidney, USA.
We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests.
View Article and Find Full Text PDFMultidisciplinary and personalized approach to the management of mycosis fungoides with chlormethine gel: a collection of clinical experiences.
Drugs Context
October 2024
Dermatology Unit, ASST Papa Giovanni XXIII, Bergamo, Italy.
Topical chlormethine (CL) gel formulation was approved by the EMA in 2017 for the treatment of adult patients with mycosis fungoides (MF). To expand the knowledge on the management of MF, this paper provides an overview of clinical practice evidence about the MF diagnostic phase and a collection of clinical experiences to better characterize the use of CL gel in daily practice. Collected cases underline the importance of the concomitant biopsy and clinical evaluation in the diagnostic phase, with the contribution of a multidisciplinary team, and support the use of CL gel as a first-line or adjuvant treatment in selected patients.
View Article and Find Full Text PDFNovel mutation for porphyria cutanea tarda, type 2: a case report.
AME Case Rep
May 2024
Division of Gastroenterology and Hepatology, Department of Medicine, Wake Forest University School of Medicine/Atrium Health Wake Forest Baptist Medical Center, Winston-Salem, NC, USA.
Article Synopsis
- Porphyria cutanea tarda (PCT) is a skin condition primarily caused by defects in the liver enzyme uroporphyrinogen decarboxylase (UROD), with type 1 PCT being the more common form associated with risk factors like alcohol use, liver disease, and hormonal therapy.
- A case study describes an elderly man with PCT who has risk factors including heavy alcohol and tobacco use, along with a novel genetic mutation affecting UROD function.
- The identified mutation, c.224 G>C; p. Arg 75 Pro, was shown to significantly reduce UROD enzyme activity by 50%, suggesting it is a pathogenic factor contributing to the patient's condition.
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