[Fabry's angiokeratosis. Report of a case and review of the literature].
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Biomedical subjects
Publications and source records attributed to I Febrer.
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A case of epidermolysis bullosa acquisita (EBA) in a 64 year old man is reported. The direct immunofluorescence showed a positive lineal anti IgG basement membrane on the affected skin (blisters and provocation tests) and on the univolved healthy skin. The electron microscopic studies showed a "dermolysis". In this patient it was not possible to find any pathological association. The EBA is usually associated with different processus but, sometimes, it could be isolated. Probably this clinicopathological field includes diverse badly delimited entities.
A 27-year-old woman and a 13-year-old girl diagnosed with juvenile dermatomyositis in childhood developed clinical findings of partial lipodystrophy 10 years after diagnosis. Exhaustive clinical and laboratory examinations showed an association with other abnormalities: hypertrichosis, steatohepatitis, and an abnormal insulin response to the glucose loading test in the first patient. Hypertrichosis, steatohepatitis, insulin-resistant diabetes mellitus, and acanthosis nigricans were observed in the second patient. Renal function was normal in both patients. Although a localized form of lipodystrophy has been reported associated with connective tissue disease (connective tissue lipoatrophy), the partial form has been infrequently described in association with juvenile dermatomyositis.
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Congenital myopathies have been described in association with systemic and skin anomalies but not with cutis laxa. De Barsey syndrome relates cutis laxa with neurological alterations and muscular hypotonia, but electromyographic nor muscular pathological studies have been made in previously reported cases. We report a case associating two major features: cutis laxa and congenital myopathy, both confirmed by biopsy. We propose the diagnosis of De Barsey syndrome in an incomplete form.
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