Atypical involvement of the palms and soles in a varicella infection.
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Biomedical subjects
Publications and source records attributed to V Oliver.
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BACKGROUND: Angiokeratoma corporis diffusum (ACD) was at one time thought to be synonymous with Anderson-Fabry disease. However, it is well known that widespread angiokeratomas may also be found in other lysosomal enzyme disorders, as well as in patients with normal enzyme activities. beta-Mannosidase deficiency was first described in humans in 1986; since then, only 11 cases of beta-mannosidase deficiency, which occurred in 8 families, have been reported. Although the clinical manifestations are varied, mental retardation and neurologic disorders are present in practically all patients. OBSERVATIONS: We describe a 22-year-old woman who, since the age of 12 years, presented with progressive ACD affecting the lower limbs and the buttocks. Enzymatic studies revealed beta-mannosidase deficiency in cultured fibroblasts and in samples of serum and leukocytes. The patients's parents in turn exhibited intermediate enzyme levels, thus confirming the recessive autosomal hereditary nature of the disease. With the exception of an introverted character, the patient demonstrated no other anomalies. CONCLUSIONS: This is the first case of beta-mannosidase deficiency diagnosed as a result of purely dermatologic findings, in the form of ACD. beta-Mannosidase deficiency should therefore be included when screening for enzyme abnormalities in patients with ACD, even in the absence of neurologic disorders or mental retardation.
Malignant endovascular papillary angioendothelioma, first described by Dabska in 1969, is a rare vascular tumor that primarily affects children and is characterized by papillary proliferations of endothelial cells into vessel lumens. We report a case of this rare neoplasm in a boy with angiomatosis who developed Kasabach-Merritt syndrome. The tumor evolved as an ulcerated lesion superficially within a previous vascular malformation on his buttock. A review of the literature is presented.
A 72-year-old man presented with a single nodule in the right thigh of 12 years' evolution. Histopathology confirmed the diagnosis of angioleiomyoma. However, unlike other tumors of this type reported in the literature, marked nuclear pleomorphism without mitotic figures was noted.
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BACKGROUND AND DESIGN: Erythroderma may be the result of many different causes. There are several publications on this subject, most of them from England, the United States, and the Scandinavian countries reporting a different incidence of each etiologic group. Our objective has been to determine the frequency of erythroderma in our environment, its cause, and patient evolution. We reviewed the clinical, laboratory, and biopsy material of 56 patients diagnosed with erythroderma who were treated in our department in the last 8 years (1984 through 1991). Patients were followed up to know the evolution of the erythroderma. RESULTS: The male-female ratio was 4:1. The mean age at diagnosis was 57 years. Dermatoses were the most frequent cause of erythroderma (62.5%), followed by topical or systemic drug reactions (16%), and cutaneous T-cell lymphomas (12.5%). Follow-up information was obtained from 42 patients (66%). Eight patients died (19%), but only in three cases was death directly related to erythroderma (7.14%). The group associated with the best prognosis was that related to drugs. The best clinicohistologic correlation was found in cutaneous T-cell lymphoma-related erythroderma. CONCLUSIONS: Erythroderma of unknown cause and protracted course may be secondary to senile atopic dermatitis, intake of drugs overlooked by the patients, and patients who are in slow progression to cutaneous T-cell lymphoma. Close follow-up of erythrodermas of unknown cause by repeating cutaneous biopsies will in time allow an early diagnosis in patients in the latter group.
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A 73-year-old man had unusual acute, generalized panniculitis. The patient had elevation of serum amylase and lipase levels with signs or symptoms of pancreatic disease. Skin specimens from the lesions showed subcutaneous fat necrosis.
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Three years after a normal cervical smear, 1,007 women were followed up to see how they responded to a computer-generated recall letter. Seven women had died and 150 had had interim smears (mainly in association with regular contraceptive or postnatal examination). Of the remaining 850, low response was not related to lower social class in the way initial recruitment to screening is. Working outside the home was more obviously associated with lower response, as wass full-time compared with part-time work. Response was also related to where the first smear was taken (61% of women first examined at a local authority clinic, but only 29% of those from a mobile industrial clinic) and was related to repetition of a familial routine which favoured permanent rather than mobile facilities. Interviews with returners and non-returners showed that over 90% remembered receiving recall letters, so non-response was a conscious decision not to attend. When a first test originated at work, response to recall tended to be poor. Of the non-returners 42%, but only 24% of the returners, had found the first test unpleasant or embarrassing. One-third of non-returners claimed difficulties in finding time, which is in accord with the lower response from full-time workers. Over 90% of those interviewed gave fear or modesty as the reasons why other women had not had a repeat smear. In general, differences in response to a letter inviting women to have a repeat smear are unlike those which characterize recruitment for a first smear. Consistency of experience appears to be strongly favoured in the regular use of cytological screening.
In a sample of 1007 women from a large cervical cytology screening programme in the Manchester region, the apparent response-rate to a letter inviting women to have a second routine smear three years after their first was 47-6%. After taking account of those who had become ineligible on medical grounds, or inaccessible, a conservative estimate of the true rate of response was 65-7%. When women who had had interim smears or examinations elsewhere were included, 72-2% of the original population of women had continued to make use of facilities for cytological screening.
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