BACKGROUND Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome as...

INTRODUCTION Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Infantile systemic hyalinosis is distinguished from juvenile hyaline fibromatosis by its mo...

Hereditary Gingival Fibromatosis (HGF) also referred to as idiopathic gingival hyperplasia is a rare type of slow growing gingival enlargement with great clinical and genetic heterogenity inherited usually as Mendelian autosomal dominant fashion. Occurring as an isolated trait (HGF) and/or as a component of a syndrome, the affected gingiva is characterized by firm, asymptomatic, nonhemorrhagic ...

Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by a benign, non-hemorrhagic, fibrous gingival overgrowth that can appear in isolation or as part of a syndrome. Clinically, a pink gingiva with marked stippling can be seen to cover almost all the tooth, in many cases preventing eruption. HGF usually begins during the transition from primary to permanent teeth, giving rise...

Gingival fibromatosis (GF) is a heterogenous group of disorders characterized by progressive enlargement of the gingiva caused by an increase in submucosal connective tissue elements. This article presents a case report of a 14-year-old female patient with idiopathic gingival fibromatosis in the maxillary region with radiographic feature of congenitally missing maxillary permanent left lateral ...

This work presents a case report of a generalized form of hereditary gin­ gival fibromatosis with hemophilia B as an accompanying disease. In the family of proband, consisting of 28 members, fibromatosis was present in 9 (4 males and 5 females). The pedigree analysis confirmed that gingival fibro­ matosis was transmited through three generations as an autosomal dominant trait. Neither proband, ...

Juvenile byaline fibromatosis is a rare connective tissue disorder, characterized by skin tumours, gingival hypertrophy and flexion contractures of the acral joints. Other associations include stunted growth, osteolytic changes and muscle weakness. The mental development is normal. Juvenile hyaline fibromatosis probably has an autosomal recessive inheritance, characterized by increased synthesi...