Eponyms Related to Genetic Disorders Associated with Gingival Enlargement: Part Ii

There are genetic disorders associated with gingival enlargement. In our part I, we reviewed the eponyms linked to Hereditary Gingival Fibromatosis (HGF) [1]. In this part II of this review, we are going to shed some light on eponyms linked to groups of genetic disorders which may feature gingival enlargement (Table I) [2-15]. Table 1: Eponyms related to genetic disorders associated with gingival enlargment Eponyms related to genetic disorders associated with gingival enlargement Remarks Anderson – Fabry Disease [2,3] Also known as Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency. It is a rare X-linked lysosomal storage disease, which can cause a wide range of systemic symptoms. who was an English surgeon and dermatologist. In this disease the angiokeratomas may also involve the oral mucous membrane and the gingiva. Histologically, angiokeratoma of the gingiva shows ceramide inclusions not only in the connective tissue, but also in the oral epithelial cells Goltz syndrome [4,5] This is another name for, focal dermal hypoplasia. Also called Goltz-Gorlin syndrome. It is a rare syndrome and may result in multisystem disorders. was an American oral pathologist and geneticist. Partial anodontia is the characteristic dental feature. Other oral manifestations include lip papillomas, gingival enlargement and hypoplastic teeth. Histopathologic features showed deposits of fat cells or adipose tissue in the dermis Hunter syndrome [6] Also known as Mucopolysaccharidosis II. It is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple organs and physiologic systems. The clinical manifestations include neurologic involvement, severe airways obstruction, skeletal deformities and cardiomyopathy. Hunter syndrome presents the same oral manifestations as Hurler syndrome.Hunter syndrome is named after physician Charles A. Hunter (1873-1955), who first described it in 1917. Born in Scotland, Hunter emigrated to Canada and had a medical practice in Winnipeg, Manitoba Hurler syndrome [7-9] This is another name for Mucopolysaccharidosis type I (MPS I). It is one of the most frequent lysosomal storage diseases. It has a high morbidity and mortality, causing in many cases severe neurological and somatic damage in the first years of life. MPS I involves a broad spectrum of clinical symptoms and can be divided into three clinical subtypes: Hurler, Hurler/Scheie, and Scheie syndromes. Scheie syndrome is considered a less severe version of Hurler syndrome. Gingival hyperplasia is a common feature in Hurler syndrome.Other intraoral features …

Gingival enlargement is common among patients and can be caused by a variety of etiological factors.The most common reason is poor oral hygiene and high bacterial load that leads to gingival inflammation and enlargement.Other implicated factors include systemic drugs, such as Phenytoin, Nifedipine, Verapamil and Cyclosporine.Some enlargements could be associated with other conditions such as puberty, pregnancy or diabetes or be a symptom of a systemic disease (leukemia, Wegener's granulomatosis or sarcoidosis) [1].There are also genetic disorders associated with gingival enlargement, which can be sorted into four groups, namely, Hereditary Gingival Fibromatosis (HGF), lysosomal storage disorders, vascular disorders and syndromes characterized by the presence of characteristic dental abnormalities .Hereditary Gingival Fibromatosis (HGF), represents a heterogeneous group of disorders characterized by progressive enlargement of the gingiva.It manifests itself by an enlarged gingival tissue covering teeth to various extents.HGF may appear as an isolated entity i.e. as autosomal dominant Gingival Fibromatosis, which has little consequence apart from a cosmetic problem and occasional associations with hypertrichosis and/or epilepsy, or as part of a syndrome [2][3][4].In Table I [5][6][7][8][9][10][11][12][13][14][15][16], we shed some lights on eponymous syndroms related to gingival fibromatosis.

Remarks
Costello syndrome (CS) [5,6] It is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor and papillomata predisposition.Heart abnormalities are also common.Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS.Oral examination is important as CS patients develop gingival hyperplasia usually within the first years of life and is considered as a quite distinct feature that can also aid in its differential diagnosis from Noonan syndrome and Cardiofaciocutaneous syndrome that phenotypically overlap with CS.CS was discovered by Dr Jack Costello, (Fig. 1), a New Zealand Paediatrician in 1977.Dr Costello died in 2010.
Table I.Eponyms related to disorders associated with gingival fibromatosis.Cross syndrome [3] Also known s, Cross-McKusick-Breen syndrome or Kramer's syndrome.It is characterized by GE, nanophthalmos, microcornea, hypopigmentation, mental retardation and writhing movement of hands and legs .Named after, a USA ophthalmologist, working in University of Arizona, Harold E. Cross, (Fig. 2), who was born in 1937.
Jones syndrome [9,10] It is an autosomal dominant disorder characterized by gingival fibromatosis with progressive sensorineural deafness.First reported by Jones et al, in 1977.
Murray-Puretic-Drescher syndrome [11] This is another name for, Juvenile hyaline fibromatosis (JHF), which is a rare autosomal recessive disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and bone lesions.JHF was for the first time described by Murray in 1873 and named by Drescher et al, in 1969.
Ramon syndrome [12] This syndrome comprises the association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis.Named after an oral surgeon, Yochanan Ramon who and his colleagues reported the condition in 1967.
Rutherfurd syndrome [13] It is a rare genetic disorder that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy.First reported, by Rutherfurd in 1931.

Schinzel-Giedion syndrome (SGS) [14]
It is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies.Most individuals affected by SGS die in early childhood mainly because of progressive neurodegeneration and respiratory failure.However, a long-lived patient showed gingival hyperplasia that was progressive even after gingivectomy.The causative gene of SGS, SETBP1, was identified.SGS was first described in 1978 by an austrian geneticist, Dr. Albert Schinzel, born in 1944 and a Swiss radiologist, Dr. Andreas Giedion, (Fig. 3), born in 1925.This is another name for, Neurofibromatosis type 1 (NF1), which is a neurocutaneous disorder characterized by neural and cutaneous manifestations, as well as skeletal, oral and jaw abnormalities.This syndrome is named after, Friedrich Daniel von Recklinghausen (1833-1910), (Fig. 4), who was a German pathologist.

Table I. Eponyms related to disorders associated with gingival fibromatosis (continued)
Zimmermann-Laband syndrome [16] It is a very rare disorder characterized by gingival fibromatosis, abnormalities of soft cartilages of the nose and/or ears, hypoplastic or absent nails and terminal phalanges, joint hypermobility, hepatoslenomegaly, mild hirsutism and learning difficulties.Named after, Karl Wilhelm Zimmermann (1861-1935), (Fig. 5), who was a German anatomist and histologist, and Peter F. Laband, who was USA dentist born in 1900.