The Importance of a Multidisciplinary Approach in a Patient with Long-term Multisystemic Manifestations of Unrecognized Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT), also called Rendu-Osler-Weber syndrome, is a rare autosomal dominant multisystemic vascular disorder, characterized by widespread mucocutaneous teleangiectasias, frequent visceral arteriovenous malformations (AVM) and a tendency for bleeding. This diagnosis should be suspected in all dermatological patients with generalized mucocutaneous vascular lesions at sites of predilection, associated frequent epistaxis and a positive family history. The aim of this paper is to emphasize the importance of a multidisciplinary approach, the role and timely cooperation of dermatologists and otorhinolaryngologists in the early clinical recognition and diagnosis of the disease. We present a family case of a 63-year - old patient with typical clinical features of HHT and long-standing multisystemic complications of unrecognized disease.

Short Overview of Some Assays for the Measurement of Antioxidant Activity of Natural Products and Their Relevance in Dermatology.

Impaired systemic redox homeostasis is implicated in the onset and development of various diseases, including skin diseases. Therefore, continuous search for natural products with antioxidant bioactivities applicable in biomedicine is attractive topic of general interest. Research efforts aiming to validate antioxidant potentials of natural products has led to the development of several assays based on various test principles. Hence, understanding the advantages and limitations of various assays is important for selection of assays useful to study antioxidant and related bioactivities of natural products of biomedical interest. This review paper gives a short overview on some chemical and cellular bioassays used to estimate the antioxidant activity of chosen natural products together with a brief overview on the use of natural products with antioxidant activities as adjuvant medicinal remedies in dermatology.

The Onset of Systemic Oxidative Stress Associated with the Accumulation of Lipid Peroxidation Product Acrolein in the Skin of Patients with Small-Vessel Vasculitis.

Small-vessel vasculitis (SVV) is the inflammation of the vessel wall that can result in hemorrhage and/or ischemia. Among the histological findings in SVV are increased infiltrating neutrophils, which, due to their oxidative burst and myeloperoxidase activity, release excessive reactive oxygen species, triggering a chain reaction of lipid peroxidation and yielding reactive aldehydes such as acrolein. The implication of oxidative stress in the pathogenesis of SVV was studied, focusing on acrolein immunohistochemistry in the affected skin vessels and systemic stress response. Samples from SVV patients and healthy subjects were collected and analyzed for total serum peroxides, total antioxidant capacity, inflammatory and immunological parameters, as well as for the presence of acrolein-protein adducts in the skin tissue specimens. The obtained data showed that systemic redox homeostasis and iron metabolism are altered in SVV patients. Possible biomarkers in the evaluation of oxidative status, disease activity and prevalence were indicated. Furthermore, a strong correlation between the accumulation of acrolein-protein adducts in the skin and the progression of the disease was revealed. Thus, the results of this study demonstrate that SVV is not only associated with systemic oxidative stress but also with tissue-specific oxidative stress that promotes acrolein formation and protein modification correlating with the severity of cutaneous vasculitis.

Progressive pigmented purpuric dermatitis and alopecia areata as unusual skin manifestations in recognizing hereditary hemochromatosis.

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.

Pyoderma gangrenosum associated with ulcerative colitis.

We report the case of a 45-year old man with non-healing ulcers located on his chest, lumbal, sacral, retroauricular areas and forehead. Both clinical and histopathological examinations suggested pyoderma gangrenosum (PG). For six months the diagnosis of ulcerative colitis was established. PG in our patient was presented as a rapidly enlarging, painful ulcer with purple, undermined edges and a necrotic, haemorrhagic base. Initially, he was treated with a high dosage of peroral glucocorticosteroid, sulfasalazine, and systemic antibiotics, together with daily wound care. Ulceration partially regressed. Total colonoscopy showed pancolitis. When the dose of glucocorticosteroids was tapered down to 35 mg, new ulcerations on his right thigh and abdomen were formed. He also developed E. coli sepsis and flare up of bowel disease. Azathioprine, together with two pulse doses of glucocorticosteroids and antibiotics, were administered. He was scheduled for a total colectomy. The management of PG continues to be a therapeutic challenge.

Hereditary benign telangiectasia.

Hereditary benign telangiectasia is a very uncommon disorder characterized by generalized telangiectasias and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous signs, positive family history, no associated bleeding problems, and no mucosal involvement. We present a 74-year-old woman with typical clinical features of hereditary benign telangiectasia.