Items in AFP with MESH term: Continental Population Groups
Hereditary Hemochromatosis - Article
ABSTRACT: Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body’s regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestations of hereditary hemochromatosis occur in approximately 10 percent of persons homozygous for C282Y. Symptoms of hereditary hemochromatosis are nonspecific and typically absent in the early stages. If present, symptoms may include weakness, lethargy, arthralgias, and impotence. Later manifestations include arthralgias, osteoporosis, cirrhosis, hepatocellular cancer, cardiomyopathy, dysrhythmia, diabetes mellitus, and hypogonadism. Diagnosis requires confirmation of increased serum ferritin levels and transferrin saturation, with or without symptoms. Subtyping is based on genotypic expression. Serum ferritin measurement is the most useful prognostic indicator of disease severity. Liver biopsy is performed to stage the degree of fibrosis with severe ferritin elevation or transaminitis, or to diagnose nonclassical hereditary hemochromatosis in patients with other genetic defects. Treatment of hereditary hemochromatosis requires phlebotomy, and the frequency is guided by serial measurements of serum ferritin levels and transferrin saturation. Iron avidity can result from overtreatment. If iron avidity is not suspected, it may mimic undertreatment with persistently elevated transferrin saturation. Dietary modification is generally unnecessary. Universal screening for hereditary hemochromatosis is not recommended, but testing should be performed in first-degree relatives of patients with classical HFE-related hemochromatosis, those with evidence of active liver disease, and patients with abnormal iron study results. Screening for hepatocellular carcinoma is reserved for those with hereditary hemochromatosis and cirrhosis.
ABSTRACT: Several skin conditions are more common in persons with skin of color, including dermatosis papulosa nigra, pseudofolliculitis barbae, acne keloidalis nuchae, and keloids. Dermatosis papulosa nigra is a common benign condition characterized by skin lesions that do not require treatment, although several options are available for removal to address cosmetic concerns. Pseudofolliculitis barbae occurs as a result of hair removal. Altering shaving techniques helps prevent lesions from recurring. In acne keloidalis nuchae, keloidal lesions are found on the occipital scalp and posterior neck. Early treatment with steroids, antibiotics, and retinoids prevents progression. A key part of the management of keloids is prevention. First-line medical therapy includes intralesional steroid injections. The distinct structure of the hair follicle in blacks results in hair care practices that can lead to common scalp disorders. For example, chemical relaxers decrease the strength of hair and may cause breakage. Better patient education, with early diagnosis and treatment, often leads to better outcomes.
ABSTRACT: Skin of color traditionally refers to that of persons of African, Asian, Native American, Middle Eastern, and Hispanic backgrounds. Differences in cutaneous structure and function can result in skin conditions with distinct presentations and varying prevalence that require unique treatment. Skin cancers have different presentations in these populations. The ability to recognize and diagnose skin cancer in a timely manner is important for reducing morbidity and mortality. Basal cell carcinoma often is pigmented, squamous cell carcinoma occurs in areas of chronic scarring and inflammation, and melanoma presents in non–sun-exposed areas, such as the soles and nail beds. Diagnosis requires biopsy, with the technique depending on size and location of the lesion. Treatment options range from topical to surgical. Acne commonly results in postinflammatory hyperpigmentation and keloids. Combination therapy with topical antibiotics and benzoyl peroxide is generally more effective than monotherapy for treating acne. Use of retinoids at lower concentrations and at less frequent dosing can help prevent postinflammatory hyperpigmentation.