RESUMO
Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.
Assuntos
Doença de Fabry/genética , Mucopolissacaridoses , Adolescente , Criança , Doença de Fabry/classificação , Doença de Fabry/enzimologia , Feminino , Galactosidases/deficiência , Humanos , Deficiência Intelectual/genética , Lisossomos/enzimologia , Masculino , Microscopia Eletrônica , Mucopolissacaridoses/classificação , Pele/patologiaRESUMO
A long-term, erythematous, follicular papular dermatosis affecting the presternal and interscapular skin was found to occur in subjects with Down's syndrome. One hundred seventy-four subjects (110 male and 64 female) were surveyed. The condition was seen in 46% of the males, with the highest incidence in patients who were between 20 and 40 years of age; the condition was rare in the females. Our findings suggest that this condition is much commoner than any other abnormal skin feature described in the literature on Down's syndrome.
Assuntos
Síndrome de Down/complicações , Dermatopatias/complicações , Adulto , Feminino , Humanos , Masculino , Escócia , Dermatopatias/epidemiologia , Dermatopatias/patologiaRESUMO
Metastatic Crohn's disease is a term used to describe a granulomatous reaction occurring in flexures, and separated from the affected areas of the gastro-intestinal tract by normal skin. Previous reports refer to such lesions affecting the groins, the male genitalia, a flexure on the anterior abdominal wall of an obese patient, and submammary regions. A further case, in which the retro-auricular areas are involved, is presented.
Assuntos
Doença de Crohn/complicações , Orelha Externa , Dermatopatias/etiologia , Adulto , Azatioprina/uso terapêutico , Biópsia , Doença de Crohn/tratamento farmacológico , Doença de Crohn/patologia , Orelha Externa/patologia , Humanos , Masculino , Fístula Retal/etiologiaRESUMO
Twenty-two cases of intra-epidermal carcinoma of the ciliary margin have been diagnosed in a 15-year survey. The clinical appearance is variable, resembling in some instances a benign warty lesion, and in others a fully developed squamous cell carcinoma. As the lesion grows it produces keratotic plugging of the lash follicles and nodules on the lid margin; in due course this results in loss of the related cilia. When dermal invasion occurs the resultant squamous cell carcinoma is potentially dangerous because of the involvement of the adnexal structures, which on the ciliary margins are particularly large and penetrate deeply into the lid substance. Adequate biopsy which includes at least one lash follicle is essential for accurate diagnosis, and treatment requires complete excision with a reasonable margin for safety. Of the twenty-two patients, nineteen were male and three female; fourteen of the men involved had handled oils and greases for prolonged periods.
