The clinical diagnosis of gingival hyperplasia can have multiple causes, in which acquired and hereditary causes must be distinguished. Only pathohistologically can the true cell proliferation be distinguished from the increase in cell volume.
With less than 100 known cases worldwide, Temple-Baraitser syndrome is a very rare hereditary, autosomal dominant genetic disorder. It is characterized by mental retardation, hypotonia in early childhood, epilepsy, small or non-existent thumb and toe nails, and certain facial features. Temple-Baraitser syndrome is caused by mutations in the KCNH1 genome at chromosomal locus 1q32.2. A ten-year-old female patient presented accompanied by her parents. Human genetics had shown that she had Temple-Baraitser syndrome. In all previously known cases of the syndrome, epileptic seizures and autistic behaviour were reported, as in this patient. The girl therefore also took Ospolot (anticonvulsant) daily.
The patient showed the typical phenotype, with a low hairline, flat forehead, downward sloping palpebral fissures, broad, depressed nasal bridge with anteriorly directed nostrils, short columella, long philtrum, and high palate. The gingival hyperplasia typical of late childhood was also clearly evident in this patient.
The patient had deciduous dentition with poor hygiene due to limited compliance and pronounced gingival hyperplasia. The permanent dentition was - as far as radiologically assessable - in place. The gingival hyperplasia in this patient is most likely syndrome- and anticonvulsant-associated. The treatment of gingival hyperplasia depends on the cause and usually consists of achieving the best possible hygiene of the dentition and, in individual cases, the removal of excess tissue. The family is therefore advised to improve oral hygiene. Further tooth eruption is awaited and orthodontic support is provided if necessary.
Complete discontinuation of the medication is often not possible, as was the case with the anticonvulsants in this case.
Palabras clave: Temple-Baraitser syndrome, gingival hyperplasia, anticonvulsants
