RESUMO
Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.
Assuntos
Síndrome de Ellis-Van Creveld/complicações , Síndrome de Ellis-Van Creveld/diagnóstico , Hemiatrofia Facial/complicações , Hemiatrofia Facial/diagnóstico , Adolescente , Feminino , HumanosAssuntos
Hiperceratose Epidermolítica/diagnóstico , Nevo Pigmentado/diagnóstico , Raquitismo/diagnóstico , Neoplasias Cutâneas/diagnóstico , Criança , Humanos , Hiperceratose Epidermolítica/complicações , Hiperceratose Epidermolítica/genética , Masculino , Nevo Pigmentado/complicações , Nevo Pigmentado/genética , Raquitismo/complicações , Raquitismo/genética , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/genéticaRESUMO
BACKGROUND: Alopecia areata (AA) is a recurrent, nonscarring type of hair loss considered to be an autoimmune process. Though its etiopathology is not fully understood, there are claims that imbalance of trace elements may trigger the onset of AA. AIM: The aim of the present study was to assess the levels of zinc, copper, and magnesium in the serum of AA patients. METHODS: Fifty AA patients (34 men and 16 women), and fifty age and sex matched healthy control subjects were studied. Samples were analyzed using atomic absorption spectrometric methods. RESULTS: Serum zinc levels were significantly decreased (P < 0.05) in AA patients whose disease was extensive, prolonged, and resistant to treatment, whereas serum copper and magnesium levels showed insignificant rise compared to controls. CONCLUSION: We conclude that copper and magnesium levels are not altered in AA, but the decreased zinc levels found in our study may merit further investigation of the relationship.