RESUMO
Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.
Assuntos
Cútis Laxa/genética , Enfisema/genética , Cútis Laxa/complicações , Cútis Laxa/congênito , Enfisema/complicações , Enfisema/congênito , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Pele/ultraestrutura , Doenças Urológicas/complicações , Doenças Urológicas/genéticaRESUMO
In their study of a case of lethal midline-granuloma, the authors describe the relations between this affection, Wegener's granulomatosis and lymphoma. The case under review illustrates the difficulty in accurately defining the nosologic picture of the disease. Anatomo-pathological examinations present two possibilities: one being malignant granuloma of the Stewart type, the other that of lymphoma. From its subsequent evolution, we may eventually learn whether this is purely a local illness or represents the onset of a systemic disease.