RESUMEN
A 30-year-old woman with congenital rickets and autosomal recessive ichthyosis developed impetigo herpetiformis in the second trimester of her first pregnancy. This condition was temporally related to her discontinuation of vitamin D supplements and subsequent hypocalcemia. No associated systemic symptoms were observed, and a healthy baby was delivered prematurely at 34 weeks' gestation. This report supports the association between hypocalcemia and impetigo herpetiformis and raises theoretical questions regarding a relationship between vitamin D metabolism and various epidermal hyperproliferative states.
Asunto(s)
Dermatitis Herpetiforme/complicaciones , Hipocalcemia/complicaciones , Hipofosfatemia Familiar/congénito , Complicaciones del Embarazo , Adulto , Dermatitis Herpetiforme/patología , Femenino , Humanos , Hipofosfatemia Familiar/complicaciones , EmbarazoRESUMEN
Fragments of tubular bones obtained in correcting operations from 11 patients aged between 10 and 17 years with congenital vitamin-D-resistant rickets were examined using quantitative microroentgenography, light and electron microscopy. The bone tissue was characterized by reduced mineral saturation of microstructures, marked osteoporosis and numerous resorption foci. The latter were located around osteocytes both in the area of osteones and in inserted plates. Electron microscopy revealed uneven incrustation of the organic matrix with the mineral component as well as disorganization of the ultrastructure of collagen fibrills and associated crystals in the foci of periosteocyte resorption.
Asunto(s)
Huesos/metabolismo , Hipofosfatemia Familiar/patología , Minerales/metabolismo , Adolescente , Huesos/ultraestructura , Niño , Femenino , Humanos , Hipofosfatemia Familiar/congénito , Hipofosfatemia Familiar/metabolismo , Masculino , Microscopía ElectrónicaRESUMEN
We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The genetics of this disease can be satisfactorily explained only on the basis of autosomal recessive inheritance, a mode which has only once before been reported in the literature. The severity of certain features, which would be expected in a homozygous state, may help our understanding of the more usual X-linked form.