Genetically transmitted polymalformative syndrome
characterized by gingival fibromatosis and progressive sensorineural
Gingival Fibromatosis with Hearing Loss; Gingival
Fibromatosis with Sensorineural Hearing Loss; Jones-Hartsfield Syndrome.
Fewer than 100 cases
published. Autosomal dominant.
Association of gingival fibromatosis and
progressive sensorineural hearing loss.
Because of gingival fibromatosis, a
complete evaluation of the airway, including mouth opening, must be
performed to eliminate the possibility of difficult direct laryngoscopy and
tracheal intubation. Difficult airway management because of gingival
hypertrophy is not common but has been observed in patients affected with
gingival hypertrophy caused by digitalis toxicity. Check for associated
abnormalities especially of the heart and lungs.
Byars-Jurkiewicz Syndrome: Characterized by hypertrichosis,
gingival hypertrophy, giant fibroadenomas of breast, and kyphosis.
Oculocerebral with Hypopigmentation Syndrome: Extremely rare autosomal recessive inherited syndrome (<20 cases described).
Most symptoms are present at birth or develop shortly thereafter. It may
include very light skin color and silvery hair in combination with
ophthalmologic (microphthalmia, corneal clouding, cataract, ectropion) and
central nervous system anomalies (dolichocephaly, mental retardation,
athetosis, ataxia, spastic paraplegia or tetraplegia). Gingival fibromatosis
may develop at the age of emergence of the first teeth and may result in
complete coverage of the teeth and become so significant that ventilation is
impaired. Proper lung ventilation can be decreased significantly by a dysfunctional diaphragm.
Gingival Fibromatosis, Hypertrichosis, Epilepsy, Mental
Retardation Syndrome: Characterized by mental retardation, epilepsy,
brachymetacarpalia, hirsutism, bulbous short nose, thick floppy ears with
abnormal configuration, and gingival hypertrophy. Other clinical features
include congenital heart defects (e.g., tetralogy of Fallot), congenital
hypothyroidism, and bilateral ureteral stenosis. Inheritance has been
suggested to result from an autosomal recessive trait.
Laband Syndrome: Characterized by soft tissue
enlargement of the nose and ears, gingival hypertrophy, skeletal
abnormalities, obscure or reduced size of toenails and thumbnails, short
terminal phalanges, hypermobility of several joints, and hepatosplenomegaly.
Juvenile Hyaline Fibromatosis: Autosomal recessive
condition that usually presents with nodular/papular skin lesions and
gingival hypertrophy during the first few years of life. The skin lesions
typically occur on the hands, scalp, ears, and around the nose and require
recurrent excision. Progressive joint contractures and osteopenia are
characteristic and may result in severely limited mobility. Diagnosis is
confirmed by demonstration of hyaline deposition in the dermis and is called
juvenile hyaline fibromatosis.
Ramon Syndrome: Characterized by cherubism (maxillary
fibrous dysplasia), gingival fibromatosis, stunted growth, hypertrichosis,
mental retardation, and epilepsy. Other clinical features may include
pigmentary changes in the retina, paleness of the optic disk, Axenfeld
anomaly, and giant hypertrophy of the labia minora.
Rutherford Syndrome: Characterized by gingival
hypertrophy and corneal dystrophy.
Hartsfield JK Jr, Bixler D, Hazen RH. Gingival fibromatosis with
sensorineural hearing loss: An autosomal dominant trait. Am J Med Genet