Porphyria Cutanea Tarda Due to Primary Hemochromatosis

Larrondo, Jorge; Gosch, Marianne

doi:10.1016/j.amjmed.2020.03.053

Cited by 2 publications

(1 citation statement)

References 4 publications

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“…In 2022, Larrondo and Gosch projected a similar scenario 11. According to the case report, a middle-aged woman presented with blisters and photosensitive skin erosions over the dorsum of her hands, forearms, cheeks and forehead.…”

Section: Discussionmentioning

confidence: 99%

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis

Goh,

Ong,

Abdullah

2023

BMJ Case Rep

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We present a case of a woman who presented with a photosensitive skin rash and blisters on her extremities which did not improve with steroids. These were associated with polyarthralgia and a deranged liver function test on her admission. Further workup revealed that the patient has an undiagnosed porphyria cutanea tarda (PCT) and hereditary haemochromatosis. The patient later underwent regular venesections which improved her condition. This case report not only illustrates the challenge in diagnosing PCT but also aims to highlight the association between PCT and hereditary haemochromatosis.

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Section: Discussionmentioning

confidence: 99%

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis

Goh,

Ong,

Abdullah

2023

BMJ Case Rep

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Dermatologic manifestations of hereditary hemochromatosis: A systematic review

Akbarialiabad,

Jamshidi,

Callen

et al. 2024

Acad Dermatol Venereol

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Hereditary hemochromatosis (HH) is a genetic disorder leading to excessive iron absorption, impacting multiple organs, notably the skin, nails and mucosae. The objective of this study is to elucidate the dermatologic manifestations, associated symptoms, pathophysiology and management recommendations of HH. We searched five primary databases (PubMed, Embase, Cochrane Library, Scopus and Web of Science) up to April 2023. Non‐English articles were included to minimize language bias. The studies were evaluated using Oxford Centre for Evidence‐based Medicine standards, with adherence to PRISMA guidelines. Inaccessible articles were directly sourced from authors. Out of the initial 1582 publications from 1904 to 2023, 22 studies (19 in English, 2 in French and 1 in German) were selected. Most reports were from the USA, UK and France and were predominantly case reports, covering 148 patients with skin symptoms related to hereditary hemochromatosis. We collected data on the cutaneous findings and, when available, their histopathological features. The current study highlights the scope, variety and traits of dermatologic symptoms in hereditary hemochromatosis, pinpointing research gaps and areas for future exploration. Our review accentuates the diverse dermatological manifestations of hereditary hemochromatosis, notably hyperpigmentation, hypertrichosis and resistant pruritus, often linked to excessive iron deposition and subsequent impairment of skin cell function. We also found controversial evidence indicating that skin cancers seem to be associated with hereditary hemochromatosis. Porphyria cutanea tarda and hereditary hemochromatosis were frequently reported together. Given hereditary hemochromatosis's genetic nature, early identification in one individual can substantially guide familial care and preemptive interventions. Clinicians should prioritize hereditary hemochromatosis as a differential when patients present with specific dermatological symptoms, especially in sun‐exposed regions. A rigorous assessment ensures accurate diagnosis, facilitating optimal management for both the patient and their family.

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Porphyria Cutanea Tarda Due to Primary Hemochromatosis

Cited by 2 publications

References 4 publications

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis

Dermatologic manifestations of hereditary hemochromatosis: A systematic review

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