Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, although familial aggregation is also observed with different inheritance patterns. We report on two unrelated children with full-blown characteristics of ZLS. Remarkable variability in expression included severity of neurocognitive involvement and extent of appendicular and facial features. In both, comparative genome hybridization array at a ~ 75 Mb resolution resulted negative, while aminoacid metabolic screening revealed high plasma levels of hypoxanthine and xanthine in one. Literature review identified 50 previously published patients (27 females, 23 males), including 14 familial, clustered in four pedigrees, and 37 sporadic. Tabulation of clinical features confirmed the core phenotype and identified developmental delay as the unique major clinical problem (occurring in 40% of the cases) with a moderately high risk of epilepsy (13%). Segregation analysis in the 20 sporadic patients with available data on healthy sibs and a single pedigree with affected sibs was significantly in contrast with an autosomal recessive mutation. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaicism seems the most likely inheritance pattern. This work may represent a starting point for future molecular studies aimed at identifying the molecular basis of ZLS.

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?

Polyfibromatosis is a rare fibrosing condition characterized by fibromatosis in different body areas and by keloid formation, and which can be associated with arthropathy and osteolysis. Familial occurrence has been described, but the cause remains unknown. Here, we describe a patient with characteristics of polyfibromatosis with arthropathy who had in addition severe conjunctival fibrosis, distinctive face, gingival overgrowth, and pigmented keloids. We discuss the resemblances and differences with polyfibromatosis and descriptions of other, similar patients. We conclude that at present it remains uncertain whether the patient has a variant of polyfibromatosis or a separate entity.

Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome.

OBJECTIVE: The purpose of this study was to evaluate the dentomaxillofacial imaging features of one family affected by the gingival fibromatosis (GF) and dental abnormalities (DA) syndrome. METHODS: Conventional radiographs (periapical and panoramic) and cone beam CT (CBCT) were performed in nine members of this family: four were affected by the syndrome and five were not. RESULTS: The four affected members demonstrated mild generalized GF in association with DA, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay on tooth eruption and pericoronal radiolucencies in unerupted teeth. None of these oral changes were identified in the five unaffected members. All nine members presented alterations in the paranasal sinuses and mucosal thickening of the maxillary sinus was the most common finding. CONCLUSION: Family members not affected by the syndrome showed similar alterations in the paranasal sinuses and CBCT was useful to characterize the dentomaxillofacial features of this new syndrome associating GF and DA.

Report of a case of Zimmermann-Laband syndrome with new manifestations.

Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, absence and/or hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and mental retardation. The syndromic characteristics of Zimmermann-Laband syndrome are highly variable and complicated. This paper described a patient with Zimmermann-Laband syndrome with new manifestations and discusses the possible underlying genetic mechanisms.

Fibromatosis gingival hereditaria: reporte de un caso familiar de cuatro miembros / Hereditary fibromatosis gingival: report of family case of four members

La presencia de deformidades mucogingivales generalmente tiene un impacto en cuanto se refiere a la estética y función, la variedad de presentaciones de estas deformidades impide hacer una única definición. Las deformidades mucogingivales como se define aqui, puede ser congénita, del desarrollo o por inducción farmacológica. Estas pueden ocurrir alrededor de piezas dentarias naturales o de implantes, pueden localizarse en tejidos blandos o ser asociados con defectos de la estructura ósea. Pueden también mostrar diferentes grados de severidad o extensión. Cualquier clasificación de deformidades mucogingivales deberán incluir un método de identificación de las diferentes condiciones que incluyan un buen diagnóstico, identificación etiológica, investigación y el tratamiento adecuado además de su evolución posterior. Este es el reporte de un caso familiar de cuatro hermanas que presentaron y presentan la enfermedad, cuyas evidencias clínicas y la historia de la enfermedad familiar hacen pensar en una fibromatosis gingival hereditaria, asociadas a la no erupción de piezas dentarias, especialmente premolares superiores e inferiores que han provocado la formación de quistes dentigeros, además de un probable hirsutismo.