Ostalo
Progressive Pigmented Purpuric Dermatitis and Alopecia Areata as Unusual Skin Manifestations in Recognizing Hereditary Hemochromatosis
Vesna Sredoja Tišma
; Polyclinic Department of Dermatology and Venereology Dubrava University Hospital Avenija Gojka Šuška 6 HR-10000 Zagreb Croatia
Stela Bulimbašić
; Department of Pathology, Dubrava University Hospital;
Morana Jaganjac
; Divison of Molecular Medicine, Laboratory for Oxidative Stress, Ruđer Bošković Institute, Zagreb;
Marica Stjepandić
; Department of Internal Medicine, Pakrac General Hospital, Pakrac, Croatia
Miljana Larma
; Department of Internal Medicine, Pakrac General Hospital, Pakrac, Croatia
Sažetak
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.
Ključne riječi
hemochromatosis; iron overload; pigmentation disorders; alopecia areata; HFE mutation
Hrčak ID:
89118
URI
Datum izdavanja:
14.10.2012.
Posjeta: 807 *