Porphyria cutanea tarda (PCT) is a blistering skin disorder that occurs most commonly in middle-aged individuals. It is caused by decreased uroporphyrinogen decarboxylase (UROD) activity, which results in elevated levels of uroporphyrinogen. Occurrence remains very rare in children with some sources quoting as few as 50 reports of childhood cases.1 The literature reports occasional cases of PCT onset with various drugs, including barbiturates, estrogens, griseofulvin, rifampicin, sulfonamides, imatinib, methotrexate, tamoxifen, and cyclophosphamide, however its incidence in childhood is uncommon.2-6 We present a case of new-onset PCT in an eight year-old following treatment of pre-B cell acute lymphoblastic leukemia with multi-agent chemotherapy.
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J Eur Acad Dermatol Venereol
December 2024
Department of Dermatology, University of Texas Medical Branch, Galveston, Texas, USA.
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 PDFHematology 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 PDFCureus
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.
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