1/4. Complete digeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.BACKGROUND: Five patients with digeorge syndrome presented with infections, skin rashes, and lymphadenopathy after the newborn period. T-cell counts and function varied greatly in each patient. Initial laboratory testing did not suggest athymia in these patients. OBJECTIVE: The purpose of this study was to determine whether the patients had significant immunodeficiency. methods: research testing of peripheral blood included immunoscope evaluation of T-cell receptor beta variable gene segment repertoire diversity, quantification of T-cell receptor rearrangement excision circles, and detection of naive T cells (expressing CD45RA and CD62L). RESULTS: The patients were classified as having digeorge syndrome on the basis of syndromic associations and heart, parathyroid, and immune abnormalities. Immunoscope evaluation revealed that the T-cell repertoires were strikingly oligoclonal in all patients. There were few recent thymic emigrants, as indicated by the very low numbers of naive T cells (<50/mm(3)) and the absence of T-cell receptor rearrangement excision circles. These studies showed that all 5 patients were athymic. Two patients died, one from infection. No thymus was found during the complete autopsy performed on one patient. CONCLUSION: patients with digeorge syndrome, skin rash, and lymphadenopathy should undergo analysis of naive T-cell numbers and of T-cell receptor beta variability segment repertoire to determine whether they are athymic, even if they have T cells with mitogen responsiveness. It is important for physicians to realize that patients with complete digeorge syndrome remain profoundly immunodeficient after development of these atypical features (rash, lymphadenopathy, and oligoclonal T cells). Prompt diagnosis is necessary for appropriate management.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/4. Clinical case of the month. 3-year-old boy presenting with a hand rash. Juvenile dermatomyositis.Of the diseases within the spectrum of the juvenile idiopathic inflammatory myopathies, juvenile dermatomyositis (JDM) is the most common. As the name implies, JDM affects the muscles and skin most commonly, but can involve other organ systems as well. Dermatologic manifestations often precede other signs and symptoms by months or even years and frequently are the primary reason the patient seeks medical attention. In the case presented here, a 3-year-old boy initially developed a hand rash that brought him to his primary care physician. By the time muscle weakness had developed, the patient had already been evaluated for dermatomyositis and therapy had been initiated. An understanding of these early clinical findings will enable physicians to make a timely diagnosis and commence therapy promptly in order to prevent life-threatening sequelae of the disease.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
3/4. nevirapine-associated rash in a Jamaican child with hiv/AIDS.nevirapine is one of the first line antiretroviral agents used in the treatment of hiv/AIDS as well as for prophylaxis against mother-to-child transmission of hiv As antiretroviral medication becomes more available it is important for physicians to recognize the major clinical toxicities of these medications. We report a hiv-infected infant who developed a rash with systemic symptoms in association with nevirapine administration.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/4. Meningococcal meningitis with a benign skin rash.A skin eruption may be one of the early clues to meningococcal meningitis. We treated a boy with meningococcal disease accompanied by an exanthemlike eruption. Although the skin lesions in meningococcal meningitis are traditionally described as petechial, purpuric, or ecchymotic, the absence of these findings should not deter the physician from a clinical suspicion of this potentially fatal infection.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |