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TOPLINE:

Many patients with hereditary hemochromatosis (HH) present with diverse skin manifestations, including hyperpigmentation, hypertrichosis of the face, and pruritus, according to a systematic review.

METHODOLOGY:

• HH is a genetic disorder characterized by increased iron absorption and accumulation in the skin, nails, and mucosae, affecting about 1 in 200 individuals of European ancestry. Despite advances in understanding pathophysiology and management, no comprehensive systematic review has assessed the full spectrum of dermatologic manifestations of HH.
• This review of 22 studies from the United States, United Kingdom, France, and other European countries published from 1964 to 2022 aimed to elucidate the dermatologic symptoms associated with HH; 148 patients with hereditary or idiopathic hemochromatosis were included (80.4% were men; mean age was 56 years).
• Diabetes mellitus (67.21%), gonadal deficiency (49.18%), heart disease (36.06%), bone and joint disorders including osteoarthritis (32.78%), hypothyroidism (12.29%), and porphyria cutanea tarda (PCT; 9.01%) were the most frequently reported comorbidities.

TAKEAWAY:

• Hyperpigmentation, including scars, grayish skin pigmentation, and tanned skin, was the most common dermatologic manifestation, reported in 105 of 108 patients (97.22%) in nine studies.
• Hypertrichosis of the face, frequently associated with PCT, was reported in three of four patients in four studies. Alopecia, in various forms, was reported in 81 of 107 patients (75.7%) in five studies.
• Nail changes, ichthyosis-like skin changes, skin atrophy, and mucosal pigmentation were among the other dermatologic manifestations reported in the trials.
• Vitiligo (two cases), pruritus (three cases), and palmar erythema (15 cases) were also reported.

IN PRACTICE:

In the studies, "skin manifestations were the primary and the only complaint of the majority of HH cases, highlighting the importance of a systematic approach by physicians in case of dermatologic presentations," the authors wrote. They also highlighted "the need for an iron profile workup and consideration of hemochromatosis in patients presenting with general unexplained pruritus, alopecia areata, excessive skin pigmentation, or unusual pigmentation in structures not being pigmented before."

SOURCE:

Hossein Akbarialiabad, MD, of the University of New South Wales, Sydney, Australia, led this study, which was published online on May 16, 2024, in the Journal of the European Academy of Dermatology and Venereology.

LIMITATIONS:

The analysis was constrained by the data limitations of some of the studies in the review, and more comprehensive research is needed.

DISCLOSURES:

This study did not receive any funding. The authors declared no conflicts of interest.