Cureus. 2025 Nov 1;17(11):e95896. doi: 10.7759/cureus.95896. eCollection 2025 Nov.

Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder characterized by excessive iron accumulation in tissues. This case highlights a 29-year-old man with an unusual presentation of hemochromatosis. Persistent symptoms led to bloodwork that revealed iron overload, prompting further genetic analysis. The 29-year-old Caucasian man presented to his primary care provider (PCP) with complaints of an erythematous and pruritic rash across his chest and abdomen. It was thought to be irritant contact dermatitis in congruence with his past medical history. He was treated with steroids with temporary improvement. He was also referred to dermatology, where he was started on dupilumab injections for eczema. Two weeks later, the patient visited the emergency department, presenting with an erythematous and pustular rash diffusely throughout both feet. His rash was assumed to be eczematous, and he was given steroids and antibiotics due to a few open sores observed. Upon returning to his PCP for follow-up, his routine labs revealed an elevated iron level of 208. In conjunction with his skin irritation, a cheek swab was ordered to check for the C282Y gene. This prompted his new diagnosis of HH. Upon this result, he was referred to hematology for further work-up. Magnetic resonance imaging (MRI) of the abdomen showed evidence of diffuse iron deposition in the liver. An echocardiogram and thyroid-stimulating hormone (TSH) levels were found to be normal in this patient. Treatment was explained, and he consented to start weekly phlebotomy to reduce total body iron stores. This case highlights an initial presentation that deviates from the typical rash and age group seen in hemochromatosis. Recognizing such manifestations may facilitate earlier diagnosis, and physicians should consider iron studies in patients with eczema or irritant dermatitis that is resistant or persistent despite standard therapies.

PubMed:41341325 | PMC:PMC12669939 | DOI:10.7759/cureus.95896