rutherfurd syndrome associated with marfan syndrome

European Archives of Paediatric Dentistry // 9 (3). 2008

138

Key words: Rutherfurd, delayed eruption, gingival fibromatosis, treatment

Postal address: Dr T Raja. Dept. Paediatric Dentistry, University Dental Hospital of Manchester, Higher Cambridge Street, Manchester, England. M15 6FH.

Email: [email protected]

T. A. Raja, S. Albadri, C. Hood. Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England

Case Report: Rutherfurd syndrome associated with Marfan syndrome

AbstractBackground: Rutherfurd syndrome is a rare genetic disor-der that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include ab-normally shaped teeth, mental retardation and aggressive behaviour. Case Report: A Consultant Clinical Geneticist referred a 2-year-old boy to the Dept. of Paediatric Dentistry at Manchester Dental Hospital. The child and his father had a diagnosis of Rutherfurd syndrome; an uncommon autosom-al-dominant condition featuring corneal dystrophy, gingival hypertrophy, abnormally shaped teeth and delayed erup-tion. The only erupted teeth were 52, 71 and 81. The patient also had features of Marfan syndrome, a condition he has inherited from his mother. Clinical Management: Preventive advice was provided and the patient was placed on regular review. By the age of 4 years, 52, 61, 72, 71 and 81 were the only teeth present clinically. Maxillary and mandibular dentures were provided, which he refused to wear. Follow-up: At age 8 years, 31 and 41 were erupted lingual to the primary incisors. No other permanent teeth had erupted. Ra-diographs revealed failure of eruption of multiple primary and permanent teeth. The second premolars had formed above the unerupted mandibular primary second molars. The pa-tient continued to refuse any intervention. Treatment options discussed included overdentures and /or removal of primary teeth and exposure of permanent teeth. Conclusion: This case has presented a rare syndrome with two important den-tal features, namely gingival hyperplasia and failure of erup-tion. The case has a long term follow up of 6 years and has a first time association to Marfan syndrome. It also highlights the importance of family history and how it can affect the at-titude of the child towards dental treatment.

BackgroundRutherfurd syndrome is a rare genetic disorder that is pri-marily characterised by three major features: gingival fi-bromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include abnormally shaped teeth, mental retardation and aggressive behaviour [Haytac and Ozcelik, 2007]. The syndrome is transmitted as an autosomal dominant trait, in common with a number of conditions that are linked with Hereditary Gingival Fibroma-tosis (HGF), such as Zimmerman-Laband [Shah et al., 2004], Jones Syndrome, and Gingival Fibromatosis with hyper

trichosis, although some recessive forms are also described in the literature [Coletta and Graner, 2006].

The condition was first described by Rutherfurd [1931], as an inherited dental defect in three generations of the same family. All affected family members were known to have sup-pression of tooth eruption and defective eyesight, and the in-dividuals in the second and third generation also had gingival hyperplasia. The same family was followed up and reported on again in 1966 by Houston and Shotts, where two further generations of the family were examined. The classical triad was discovered, as was a history of learning difficulty and aggressive behaviour affecting some family members [Hous-ton and Shotts, 1966]. The patient described in this report is a member of the latest generation of the same family.

The patient also suffers from some of the features of Mar-fan syndrome, which had been passed on to him from his mother. Marfan syndrome is a serious condition largely be-cause of its cardiovascular complications that cause 95% of deaths in patients with the condition [De Coster et al., 2002]. The major cardiac features of the condition are; dilatation and/or dissection of the ascending aorta, aortic regurgitation and mitral valve prolapse. Other organ systems that have significant involvement with Marfan syndrome are; the skel-etal system and the ocular system. The first can result in a tall stature with long slim limbs, pectus carinatum, muscle hypotonia and joint hypermobility. The main features affect-ing the ocular system include eye lens subluxation and se-vere myosis.

This paper describes the dental features; management and 6 years follow up of a member of the latest generation of the same family, suffering from Rutherfurd syndrome in associa-tion with Marfan syndrome.

Case ReportA 2 years and 4 month old boy was first seen in the Paediatric Department in the University Dental Hospital of Manchester in September 2001. He was referred to the department for assessment by his Consultant Clinical Geneticist after a di-agnosis of Rutherfurd syndrome had been made.

TreatmentInitial assessment: September 2001. A thorough medical and family history was taken that revealed that the boy’s father


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and grandfather had Rutherfurd syndrome, and that there was a history of Marfan syndrome on the maternal side of the family, including the patient’s mother. It also became apparent that the only two previous reports that described Rutherfurd syndrome, in 1931 and 1966, included members from the patient’s family [Rutherfurd, 1931; and Houston and Shotts, 1966].

The boy’s father reported that he only had three teeth erupt-ed in his mouth at the age of 20 years, all of which were sub-sequently extracted. He was now wearing upper and lower removable prostheses, despite attempts to orthodontically extrude his unerupted permanent teeth, which ultimately proved unsuccessful.

The patient was found to be very active and talkative. Upon clinical examination, oral hygiene was noted to be good and the gingival tissues healthy. Teeth present were 52, 71 and 81 and no caries was evident. Unerupted teeth were palpable in the alveolar ridges. Preventive advice and oral hygiene instruc-tion were given and arrangements made to review the patient.

Continuing care: October 2002. A review was undertaken at this appointment. The patient reported no symptoms or con-cerns since the last visit. On this visit the only change noted was that 61 had also erupted. No treatment was undertaken at this appointment, but preventive advice was reinforced.

Continuing care: October 2003. It was noted at this visit that the patient was under regular review from the Cardiology and Ophthalmic teams, with regard to Marfan syndrome, and bi-lateral corneal vascularisation and opacity respectively, as well as the Genetics team in a nearby Paediatric Hospital. Now aged 4 years and 5 months, the only teeth erupted were 52, 61, 72, 71 and 81. Oral hygiene was noted to be excel-lent. Orthopantomogram (OPT) examination revealed failure of eruption of multiple primary teeth, as all were visible on the radiograph (Figure 1).

The options of intervention and non-intervention were dis-cussed at this stage with the family. The parents requested that removable prostheses be constructed for the patient.

January-October 2004. Arrangements for the provision of upper and lower partial dentures were made, and after 4 visits, the prostheses were fitted in January 2004. At the re-view appointment in October 2004, it was discovered that the patient had adapted poorly to the dentures, and was not wearing them. Another tooth, the 82, had partially erupted into the mouth, making it difficult for him to tolerate the lower prosthesis. The patient also stated he did not like the taking of impressions or having bite blocks in his mouth. At this stage no further treatment was provided in accordance with the patients and parents wishes.

April 2006. The patient was next seen 18 months later when it was noted that the permanent mandibular central incisors (31 and 41) were also present in the mouth, lingual to the re-tained primary mandibular central incisor teeth. The unerupt-

ed permanent maxillary central incisors were also palpable in the alveolar ridge. The patient was happy with not wearing dentures, and no further treatment was undertaken.

January 2007. When the boy next presented in January 2007, he was then aged 7 years and 8 months. His medical history at this appointment consisted of:

Rutherfurd syndrome,

Marfan syndrome (borderline case with some suggestive features),

Mild mitral valve incompetence/regurgitation,

Bilateral corneal vascularisation and opacity,

Myopia with astigmatism,

Relatively long limbs,

Mild joint laxity.

Rutherfurd Syndrome

Figure 1. Orthopantomogram radiograph of patient with Rutherfurd Syndrome taken in October 2003 when aged 4 years and 5 months.

Figure 2. Intra-oral picture of patient taken in July 2007 when patient was aged 8 years 2 months.


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Figure 4. Intra-oral picture of the patient taken in July 2007 when aged 8 years 2 months.

Figure 5. OPT taken of patient aged 7 years and 8 months in January 2007.

Due to the mild mitral valve regurgitation, a common feature of Marfan syndrome, the patient’s cardiologist advised anti-biotic cover before any surgical dental procedures.

Clinical examination revealed teeth present were 52, 61, 72, 71, 31, 41, 81 and 82, (Figures 2, 3 and 4 – pictures taken in July 2007). Oral hygiene was found to be good. Gingival hyperplasia was noted around the anterior aspects of both maxillary and mandibular alveolar ridges. Severe tooth wear was found associated with the primary maxillary incisors, 52 and 61. The permanent mandibular central incisors had erupted lingually to the retained primary lower central inci-sors. Generalised spacing was present between the erupted teeth. The permanent maxillary central incisors were palpa-ble in the alveolar ridge.

Radiographic examination revealed failure of eruption of mul-tiple teeth (Figure 5). All primary canines, first and second molars had failed to erupt, as had the first permanent molars. The permanent maxillary central incisors appeared to be ro-tated, and the permanent second premolars were seen de-veloping above the submerged deciduous second molars.

Treatment Options - January 2007. The patient was assessed and examined by our Paediatric Dental Consultant, and by a Consultant Orthodontist. Three options were discussed at this time with the patient and his parents;

1. No intervention at this stage,

2. Removal of the erupted primary teeth, followed by the surgical exposure and orthodontic extrusion of perma-nent maxillary incisor teeth,

3. Provision of overdentures with or without the removal of erupted primary teeth.

The child and his family opted not to pursue any active treat-ment at this juncture. It was felt this was partly due to the attitude of the patient’s father who had also had surgery to expose teeth when he was younger, but he had considered this treatment relatively unsuccessful. The patient had also refused to wear removable prostheses in the past.

September 2007. The patient presented again complaining of pain from tooth 52. Clinical examination revealed erythe-ma and inflammation around the remnant of tooth 52. Severe tooth wear had also previously been noted affecting tooth 61, (See Figure 5). Both teeth have subsequently been ex-tracted under local anaesthetic with antibiotic cover.

Follow-upWith regard to long-term care, the patient and his family are not keen to embark on surgical exposure of these teeth at this stage of their dental care. After further discussion, the patient has agreed to try wearing a full maxillary denture, as all maxillary teeth have now been lost. Appointments have been made to construct this prosthesis for him.

Figure 3. Intra-oral photograph of the patient taken in July 2007, patient now aged 8 years 2 months.


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Rutherfurd Syndrome

DiscussionThis paper describes the dental features and management of an 8-year old boy, who is in the latest generation of a family who have previously been reported on by Rutherfurd in 1931, and then by Houston and Shotts [1966]. These two papers are the only reports of the condition in the medical literature, however this is the first time this condition with two very im-portant dental characteristic, namely gingival hyperplasia and failure of eruption, have been described in a dental journal.

The patient also suffers from some of the features of Marfan syndrome, a condition that he has inherited from his mother. Marfan syndrome is a heritable disorder that affects multiple organ systems, with most features being age related. The car-diovascular complications are the most significant and sub-stantially reduce life expectancy in the individuals affected.

Other organ systems that are known to have involvement with Marfan syndrome are the skeletal and ocular systems in particular, with some involvement of the skin, dura and pul-monary system. In this case, the patient has been noted to have mild mitral valve incompetence/regurgitation, relatively long limbs, mild joint laxity, and myopia with astigmatism, along with Rutherfurd syndrome.

Rutherfurd syndrome is associated with failure of eruption. No causative gene for the eruption defect has been identi-fied yet for this syndrome, contrary to a number of disor-ders which are all associated with primary failure of eruption such as Cleidocranial Dysplasia, Osteopetrosis and Osteo-glophonic Dysplasia [Ahmad et al., 2006]. Transmission of Marfan syndrome is as an autosomal dominant trait, and is caused by mutations in FBN1, the gene encoding the micro-fibrillar protein, fibrillin-1 [De Coster et al., 2002].

The radiographs in this case (Figures 1 and 5) revealed that the unerupted primary and secondary teeth are still enclosed within bone. Therefore, this was suggestive of primary erup-tion failure affecting these teeth, rather than secondary to gingival hyperplasia, as suggested by Houston and Shotts [1966].

Hereditary gingival fibromatosis is the most common syndro-mic gingival hyperplasia. It is mainly an autosomal dominant disease, such as in Rutherfurd syndrome. Less frequently it is an autosomal recessive disease if it is a manifestation of Murray-Puretic-Drescher, Cross, or Ramon syndromes [Doufexi et al., 2005; Coletta and Graner, 2006].

There is some debate in the literature with regard to the best time for treatment to be initiated for cases of hereditary gin-gival fibromatosis. According to several authors, the appro-priate time is when all of the permanent teeth have erupted, due to a higher risk of recurrence if done earlier [Cuestas-Carnero and Bornancini, 1988; Bittencourt et al., 2000]. However, in some cases a delay in the surgical treatment may cause significant consequences for the patient, such as retention of the primary teeth, aesthetic affects, difficulties

in mastication and/or phonation and possibly psychological problems [Bittencourt et al., 2000; Bozzo et al., 2000; Bap-tista 2002; Kavvadia et al., 2005].

During the conversation regarding treatment options for this case with the family, the patient’s father reported that he had had multiple surgical procedures when he was young. The surgery was deemed to be relatively unsuccessful by him. It was generally felt that the previous negative experience of the father influenced the decision of the 8- year old boy not to pursue any treatment.

In instances such as this what is perceived by clinicians to be a problem requiring intervention, may not be reciprocated by our patients. The wishes of the patient should be adhered to and appropriate alternatives discussed.

ConclusionThis case has presented a rare syndrome with two important dental features, namely gingival hyperplasia and failure of eruption. The case has a long term follow up of 6 years and has a first time association to Marfan syndrome. It also high-lights the importance of family history and how it can affect the attitude of the child towards dental treatment.

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rutherfurd syndrome associated with marfan syndrome

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