Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a c...

Hereditary gingival fibromatosis (HGF) is a rare disease characterized by a benign enlargement of the gingiva involving both the mandible and the maxilla. This case is about a 6-year-old child with non syndromic HGF showing a severe gingival enlargement covering almost all surfaces of the teeth, in both arches, hence causing major aesthetic, phonetic and masticatory problems. The aim of the pre...

Juvenile hyaline fibromatosis (JHF) is a rare progressive autosomal recessive disease that is characterised by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. We present an 18-month-old boy with JHF. This case demonstrates that JHF should be considered in the differential diagnosis when multiple subcutaneous nodules are obser...

Juvenile hyaline fibromatosis is a rare disease whose inheritance follows the autosomal recessive pattern. It was first reported in 1873 by Murray (1). The patient usually presents during infancy with slowly growing cutaneous nodules or plaques, gingival hyperplasia, joint contractures and osteolytic bone lesions (1-4). Consanguinity is present in approximately 50% of patients (5). The case of ...