RESUMO
Zimmermann-Laband syndrome (ZLS) is a very rare autosomal dominant inherited condition characterized by 3 major clinical findings of which gingival hyperplasia are always present. The great heterogenicity of the syndrome is illustrated by the numerous variable clinical findings described in the literature. The purpose of the study was to examine a patient diagnosed with ZLS and to describe possible new characteristics of this rare syndrome, including the ultrastructural morphology using a transmission electron microscope (TEM) of the gingival and dermal fibroblasts. The ultrastrucutral morphology as has not previously been described in the literature. Tissue was collected from the alveolar ridge and skin of the forearm for TEM. TEM studies indicated the presence of prominent fibroblasts situated among numerous regular dense connective tissue bundles. Genetic analysis showed a new chromosomal insertion, ins(12;8)(p11.2;q11.2q24.3), suggesting that the gene responsible for the syndrome lies on chromosome 8.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/ultraestrutura , Fibroblastos/ultraestrutura , Hiperplasia Gengival/genética , Hiperplasia Gengival/patologia , Criança , Aberrações Cromossômicas , Dedos/anormalidades , Deformidades Congênitas da Mão/genética , Humanos , Corpos de Inclusão/ultraestrutura , Masculino , Microscopia Eletrônica de Transmissão , Unhas Malformadas/congênito , Pele/ultraestruturaRESUMO
PURPOSE: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis, the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome. METHODS: Two cases of Rieger syndrome which affected a patient and his daughter were studied. Multiple clinical examinations including photography of anterior segment, gonioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicroscope (UBM) was first used to show the abnormalities of anterior segment in this syndrome. RESULTS: Gonioscopic examination revealed many mesoderm tissues remained and some parts of the iris adhered to cornea. In addition to cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chromosome examination indicated normal. CONCLUSIONS: Rieger syndrome is an autosomal-dominated disorder with mesoderm dysgenesis. Recent researches have confirmed that a locus for this syndrome maps to 4q25. Besides hypoplasia of cornea, iris and chamber angle, its ocular phenotype maybe include dysgenesis of ciliary body which is probably one of the reasons of secondary glaucoma.
