Search

Results Patient’s symptoms started at age 4, presenting with vesiculopapular eruptions and pruritus on photoexposed areas, evolving into crusts. She had been treated with anti-histamines and topical steroids for several years, with no improvement. Sometimes the patient referred other associated symptoms, including dizziness, dyspnea, chest pain and strong pain in the thighs. Additional treatments included oral corticosteroids, moisturizers, sunscreen filter factor 30 and cyclosporine. On physical exam, the patient presented erythematous papules, infiltrated, associated with lichenification, crusts and chafing on the surface of the exposed areas in the upper limbs, anterior chest, lumbar region and lower limbs, and erythematous plaques in the nasal and malar region. Differential diagnosis included Atopic Dermatitis, Besnier’s Prurigo, Idiopathic Prurigo, Subacute Erythematosus Lupus, Protoporphyria and Contact Dermatitis. At our hospital she underwent skin biopsy, and the results showed characteristic features of Hydroa vacciniforme. The patient now is being treated with chloroquine 250mg/day, Pimecrolimus cream twice daily on the face, mometasone once a week, hydroxyzine 25mg twice daily, and sunblock factor 30. She reports great improvement of symptoms.

Methods Two hundred and fifty four patients aged 13-80 years (202 females,79.5%), with chronic urticaria/angioedema who receive care at the Allergy Clinic of the Clinical Hospital of Ribeirao Preto Medical School in Brazil, were evaluated prospectively. Patients were inquired about triggering of symptoms by medications and/or physical agents and presence of anaphylaxis. In addition, they were investigated by skin testing and tests for eosinophilia, IgE, and hepatitis B and C. Autoimmune basis was characterized by presence of positive autologous test, anti-thyroid or antinuclear antibodies (ANA). When indicated, a skin biopsy was performed. Use of medications for urticaria was analyzed.

Background Hoyeraal–Hreidarsson syndrome (HHS) is a rare multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, neurological deficits, aplastic anemia, and immunodeficiency. HHS is a severe variant of Dyskeratosis Congenita (DC) that displays clinical features overlapping DC, with T, B and NK immunodeficiency. Both genetic disorders presents deficiency in maintaining telomere integrity. Mutations in the DKC1 gene are responsible for the X-linked form of the disease.