RESUMO
Hereditary hemochromatosis (HHC) is a common genetic disorder of iron overload, caused by mutations in the HFE gene. If untreated, abnormal accumulation of iron may lead to organ damage and premature death. Significant changes in the symptomatology of HHC have been observed in recent years, and its full clinical expression is rarely seen. The disorder presents a large phenotypic heterogeneity. We report a case of newly identified HHC in a 56-year-old man presenting as pigmented purpuric dermatitis and alopecia areata affecting the beard, accompanied with elevated liver enzymes and elevated serum ferritin level on screening chemistry panels. Histopathologic examination of skin biopsy revealed changes consistent with the diagnosis of progressive pigmented purpuric dermatitis. The diagnosis of HHC was confirmed by genetic testing, with compound heterozygosity for the C282Y/H63D mutation. He had no signs of cardiomyopathy, gonadal insufficiency, arthropathy, or glucose intolerance. The diagnosis of HHC in our patient was based on clinical findings, laboratory findings, histopathologic examination of skin biopsy and genetic tests. Early diagnosis and therapeutic phlebotomy are very important in the prevention of all known complications of HHC, and are the major determinants of survival. Pigmented purpuric dermatitis and alopecia areata may be unusual early clinical skin presentations of HHC. The relation between inheritance of one or more hemochromatosis genes and susceptibility for progressive pigmented purpuric dermatitis or alopecia areata needs further investigation.
