Vol. 17, No ?.

1983 YU ISSN: 0001—7019

UDC 616.311.2:616.151.5

CODEN: ASCRBK

Original paper

Hereditary gingival fibromatosis with hemophilia B

Ilija Škrinjarić, Miljenko Bačić and Zvonko PojeDepartment of Children’s and Preventive Dentistry, Department of Periodontology and Department of Orthodontics, Faculty of Dentistry, University of Zagreb

Received, February 7, 1983

This work presents a case report of a generalized form of hereditary gin­gival fibromatosis with hemophilia B as an accompanying disease. In the family of proband, consisting of 28 members, fibromatosis was present in 9 (4 males and 5 females). The pedigree analysis confirmed that gingival fibro­matosis was transmited through three generations as an autosomal dominant trait. Neither proband, nor any other family member, showed other abnorma­lities. Blood coagulation tests reveald hemophilia B (Christmas disease) in the proband. The coagulogram showed prolonged kaolin cephalin time (50 se­conds) and low concentration of factor IX (F IX 18%). The case report sug­gests that hemophilia B should be included in the list of diseases associated with gingival fibromatosis.Key words: gingival fibromatosis, hemophilia B

H ereditary g ing iva l fibrom atosis manifests as an isolated tra it, accom panied by other abnorm alities or disease, or as a symptom o f a specific syndrome. The most common c lin ica l abnorm alities associated w ith g ing iva l fibrom atosis are hypertrichosis, epilepsy, mental retardation, and defects of the eye, ear, nose, skeleton and nails (F letcher1, G orlin et a I.2, Jorgenson and Cocker3). Isolated g ing iva l fibrom atosis w ithout other abnorm alities is considered a special entity which differs from the fibrom atosis accom panied by hypertrichosis, epilepsy or mental re tardation (Cohen4). W hen only g ing iva l fibrom atosis develops, it usually means tha t the disease was inherited as an autosom al dom inant tra it (F letcher1, Savara5, Zackin et a l.6, Becker et a l.7), even though the autosom al recessive trans­mission of the disease has also been described (G orlin et a l.2, Jorgenson and Cocker3). Raeste et a l.s have reported on the autosom al dom inant transmission of fibrom atosis w ith variab le penetration.

According to the loca lization, Jorgenson and Cocker3 d iffe ren tia te two types of isolated g ing iva l fib rom atosis: the generalized form involving a ll g ingiva of both jaws, and the localized or focal form involving only part of the g ing iva

Summary

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I. Škrin jarić, M. Bačić, Z. Poje G ing iva l fib rom atosis w ith hem ophilia B

(usually the pa la tine surface of the m axillar tubera or lingua l surface of the m and ibu lar ridge).

In an a rtic le on g ing iva l fibrom atosis Fletcher1 mentions disturbed blood coa­gu la tion - among other symptoms which m ight accom pany fibrom atosis - but does not precisely define the type of disease. H em ophilia B w ith g ing iva l fib ro ­matosis has not been previously reported in literature.

This a rtic le presents a case report of a generalized from of hereditary g in g i­val fibrom atosis w ith hem ophilia B as an accom panying disease.

FAMILY REPORT

In the fam ily of proband 111-3, consisting of 28 members, fibrom atosis was present in 9 (4 males and 5 females). The pedigree analysis confirm ed tha t g in ­gival fibrom atosis was transm itted through three generations as an autosomal dom inant tra it (Figure 1). The fa ther of the proband (II-3) showed a marked generalized form of fibrom atosis (Figure 2). H yperplastic g ingiva in the maxilla and m andib le almost entire ly covered the occlusal surfaces and incisor edges. N either examinee II-3, nor any other fam ily member, showed other abnorm alities.

□ O NORMAL MALE, FEMALE Ü&S AFFECTED MALE, FEMALE .EXAMINED

Figure 1. The fam ily ped igree shows autosom al dom inant mode of inheritance

CASE REPORT

Proband III-3 was 16 qears old. Aside from generalized hyperplastic g ingiva no other abnorm alities were present. G ingiva covered ha lf of the denta l crown in the la tera l teth area and was less pronounced in the fron ta l region of the m andib le and maxilla (Figure 3). M alocclusion Class II, d ivision two, w ith a markedly deep overlap of fronta l teeth was diagnosed on the basis of the c lin ica l exam ination and analysis of the LL X-ray. The m axilliary central incisors were ty­p ica lly rotated and protruding, m andibu lar incisors retroverted, and the lower canine teeth typ ica lly rotated. The bite was deep and there was contact between the m and ibu lar and m axillary incisors and the g ingiva.

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I. Škrin jarić, M. Bačić, Z. Poje G ing iva l fib rom atosis w ith hem ophilia B

Figure 2. Extensive gingival fibromatosis in proband’s father (11-3)

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I. Š krin jarić, M. Bačić, Z. Poje Gingiival fib rom atosis w ith hem ophilia B

Figure 3. Gingival fibromatosis in the proband (111-3) two years after gimgivectomy

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TableVALUES OF THE BLOOD COAGULATION TESTS

Platelet count 117 X 109/1Bleding time 0.15 ksClotting time 0.55 ksProthrombin time 11.5 sec. > 1.0Recalcified plasmaclotting time (Howell) 0.179 ksProthrombin consumption 0.070 ksThromboplastin generation time (TGT) 2 min. 4 min. 6 min.

14 sec. 10 sec. 9 sec.Partial thromboplastin time (PTT)(Kaolin-cephalin time) 50 sec.Thrombin time 34 sec.Factor VIII 0.36Factor IX 0.18Factor XIII > 1800 sec.

Anam nestic data indicated tha t the disease began w ith second dentition . The proband took neither hydantoin preparations nor any other kind of drug which could cause g ing iva l enlargem ent. Figure 3 presents the condition of g ingiva two years a fter gingivectomy, tha t is recurrence of the previous stage. Blood coa­gu la tion tests performed before gingivectomy, revealed hem ophilia B (C hrist­mas disease) in the proband. The coagulogram (Table 1) showed prolonged kaolin cephalin time (50 seconds) and low concentra tion of fac to r IX (F IX 18%).

DISCUSSION

Hereditary g ing iva l fibrom atosis usually develops a t the beg inn ing of perm a­nent dentition (F letcher1, G orlin et a l.2, Jorgenson and Cocker3), a lthough it can occur in the primary dentition (F letcher1, Savara5, Henefer and Kay9). H is to log i­cally fibrom atosis is characterized by hyperplasia of the connective tissue and th ickened epithe lium (H enefer and Kay9, Aurer et a l.10). Henefer and Kay9 report tha t fibrom atosis h isto logica lly resemble keloid.

G ing iva l fibrom atosis is a leading symptom in the fo llow ing syndromes: Mur- ray-Puretić-Drescher, Rutherford, Laband, Cross, Jones and Byars-Jurkiewitz (Co­hen4). The M urray-Puretić-D rescher syndrome shows g ing iva l fibrom atosis and m ultip le hyaline fibrom as. Rutherford syndrome manifests as g ing iva l fib rom a­tosis w ith corneal dystrophy. The Laband syndrome shows g ing iva l fibrom atosis w ith hepatosplenom egaly, defects of the ear, nose, bone and nails. The Cross syndrome includes g ing iva l fibrom atosis w ith m icrophathalm ia, mental re ta rda­tion, athetosis and hypopigm entation. G ing iva l fibrom atosis and sensorineural deafness characterize the Jones syndrome. The Byars-Jurkiewicz syndrome con­sists of g ing iva l fibrom atosis, hypertrichosis and g ian t fibroadenom as of breast.

Literature contains relatively few articles on pedigree patients w ith fib rom a­tosis (F letcher1) and the genetic mechanism responsible fo r the isolated g ing iva l fibrom atosis is not com pletely understood (Jorgenson and Cocker3). This ind ica ­tes the need fo r analyzing the hereditary mechanism in a larger number of exa­minees w ith fibrom atosis to shed ligh t on its genetic transmission.

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I. Š krin jarić, M. Bačić, Z. Poje G ing iva l fib rom atosis w ith hem ophilia B

The pedigree analysis in the present study revealed an autosom al dom inant inheritance of fibrom atosis which was transm itted through three generations. Examinee 111-3 was the only fam ily member who had hem ophilia B together w ith fibrom atosis. Since hem ophilia B is transm itted as an X-linked recessive tra it, the proband could have only inherited the gene from his mother. The disease is never transm itted from the fa ther to the son, and develops exclusively in males. Males w ith hem ophilia B transm it the gene fo r the disease to ha lf of the ir daugh­ters who are then carriers. Female carriers transm it the disease to ha lf of the ir sons, and ha lf of the ir daughters w ill be la tent carriers of the gene w ithout the disease m anifesting. These theoretica l genetic viewpoints have practica l im p li­cations in genetic counselling which should be an in tegra l part of pa tien t me- nagem ent (Lucas and Prescott11). Not one of our proband's firs t generation o ff­spring can have fibrom atosis w ith hem ophilia. As an autosomal dom inant tra it, fibrom atosis w il be transm itted to about ha lf of the offspring regardless of the sex. The proband cannot transm it hem ophilia to his sons, but can transm it the gene fo r the disease to ha lf of the daughters who then become carriers. In the second generation it is possible tha t a woman w ith fibrom atosis and a carrier of the gene fo r hem ophilia w ill transm it both of these genes to her son, so tha t both diseases manifests together. If the proband does not have a daughter w ith fibrom atosis who is the carrier of the gene fo r hem ophilia , these two diseases w ill not m anifest together in fu ture generations.

This case report of hereditary g ing iva l fibrom atosis w ith hem ophilia B sugests tha t hem ophilia B should be included in the list of diseases associated with fibrom atosis.

REFERENCES

1. FLETCHER, J. P.: G ing iva l A b n o rm a li­ties of G enetic O rig in : A Prelim inary Com m unication w ith Special Referen­ce to H ered itary Generalized G ing iva l Fibromatosis, J. Dent. Res., Supplem ent to No 3, 45:597, 1966.

2. GORLIN, R. J., PINDBORG, J. J., C O ­HEN, M .M .: Syndromes of the Head and Neck, M cG raw -H ill, New York,1976.

3. JORGENSON, R. J. and COCKER, M. E.:V aria tion in the Inheritance and Expre­ssion of G ing iva l F ibromatosis, J. Pe­riodonta l., 45:472, 1974.

4. COHEN, M .M .: Dysmorphic syndromes w ith c ran io fac ia l m anifestations, p. 596.In: Stewart, R. E. and Prescott, G. H.:O ral Facial Genetics, The C. V. Mosby,Saint Louis, 1976.

5. SAVARA, B. S., SUHER, T., EVERETT,F. G., and BURNS, A. G .: H ered itary G ing iva l Fibrosis; Study of a Family J. Periodontol., 25:12, 1954.

6. ZACKIN, S. J., and WEISBERGER, D.:H ered itary G ing iva l F ibrom atosis: Re­

port of a Family, O ral Surg., 14:828, 1961.

7. BECKER, W., COLLINGS, C. K., Z IM ­MERMAN, E. R., De La ROSA, M., and SINGDAHLSEN, D.: H ered itary G in g i­val F ibromatosis, O ral Surg., 24:313, 1967.

8. RAESTE, A., COLLAN, Y., and KILPI- NEN E.: H ered itary fib rous hyperplasia of the g ing iva w ith varying penetrance and expressivity, Scand. J. Dent. Res., 86:357, 1978.

9. HENEFER, E. P., and KAY, L. A .: Con­gen ita l id io p a th ic g ing iva l f ib ro m a to ­sis in the deciduous dentition . Report of a case., O ra l Surg., 24:65, 1967.

10. AURER-KOŽELJ, J., KNEŽEVIĆ, M., and BAČIĆ, M .: N asljedna fib rom atoza g in - give, Acta Stom. Croat., 15:55, 1981.

11. LUCAS, O. N., and PRESCOTT, G. H.: H em ophilias and O ther H em orrhag ic Disorders. S ign ificance of Preventive Dentistry, Dent. Clin. North Am., 19:63, 1975.

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Sažetak

NASLJEDNA F1BROMATOZA GINGIVE S HEMOFILIJOM B

Rad predstavlja prikaz sluča ja genera liz irane form e nasljedne fib rom atoze g ingive s hem ofilijom B kao pratećom bolešću. U o b ite lji p robanda, koja se sasto ja la od 28 članova, fib rom atoza je bila prisutna u 9 (4 muška i 5 ženskih). Genealoškom analizom utvrđeno je da se fi'brom atoza g ing ive prenosila kroz tri generacije kao autosomno dom inantno svojstvo. Ni proband, niti ostali č lanovi o b ite lji nisu pokaziva li b ilo kakvih drug ih abnorm alnosti. Testovima koagu lac ije krvi u probanda je utvrđena hem ofilija B. Koagulogram je poka­zivao produženo kaolin cefa linsko vrijem e (50 sekundi) i nisku koncentraciju faktora IX (F IX 18%). Prikaz s lučaja ukazuje da među bolesti koje mogu doći s fibrom atozom g ingive treba uk ljuč iti i hem ofiliju B.

Ključne riječi: fibromatoza gingive, hemofilija B

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