Case reports
Oral-dental findings in dyskeratosis congenita Yavuzyilmaz E. Yamalik N. Yetgin S. Kansu O: Oral-dental findings in dyskeratosis congenita, J Oral Pathol Med 1992: 21: 280-284, A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia. growth retardation, allopecia. mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.
Dyskeratosis congenita (DCG) is a rare congenital and familial disorder characterized by the triad of retieular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membranes, and it is often associated with severe pancytopenia (I 13). DCG usually starts between the ages of 5 12 years with dermatologic symptoms (3). The mode of genetic transmission is unknown, but it mainly affects males (4. 5. 12. 14, 15 17). DCG has long been accepted as a hereditary disorder, but the mode of inheritance remains uncertain (2, 3, 11, 14, 16). X-linked recessive, autosomal dominant and autosomal recessive transmission having all been proposed (18). In patients with DCG generalized growth retardation and fragility exist (4, 17, 19). The importance of this syndrome lies in the high incidence of pancytopenia and eutaneous and mucosal carcinomas which develop in young affected adults (10, 16, 20) and the presence of opportunistic infections (16, 18, 20). Most patients die in their teens, twenties or thirties: most deaths occur following progressive bone marrow involvement with pancytopenia or malignancy (20). Pigmentation of the skin and dystrophy and atrophy of the nails are the most frequent manifestations (5, 10. 13, 15. 16. IS. 20), Leukoplakia may occur on various mucous membranes and become malignant (5, 13, 17). Lichen planus or Iichenoid lesions, instead of leukoplakia. in the oral cavity may also develop (7), The skin may become atrophie and teleangiectatic and the face appears red (10. 15. 17), The degree of
teleangiectatic erythema varies between cases (17). Although the principal clinical findings of this conditions are described as a triad, there is a high association of hematopoietic abnormalities with this syndrome (5. 6, 14, 15, 17. 18). The earliest sign may be either aneiTiia or thrombocytopenia. but ultimate progression to pancytopenia is usual (18). Because of the hetnatologic disorders and congenital defects that occur in DCG (12, 17), many investigators have been struck by the resemblance of DCG to Fanconi's anemia (FA) (5, 6, 10, 14). While the abnormalities were suggested to be considered as a further variant of FA. still several differences exist which help to separate one from the other (17). Occasional cases of DCG, have also been reported with a wide spectrum of other minor manifestations including mental retardation, small sella turcica. dysphagia. transparent tympanic membranes, deafness, epiphora, urethral anomalies, small testes. dental abnormalities, hyperhydrosis of the paltrts and soles, hepatic abnormality, signet ring carcinoma, atrophy of the frontal lobes and extensive intracranial calcifications (10, 19, 20). There are several studies whieh have dealt with the oral and dental findings of DCG, Destruction of alveolar tnargins (22). gingival inflammation (13. 15), .severe alveolar bone loss resembling juvenile periodontitis (13). hypomineralized teeth (16), taurodontism (21). short-blunted roots (7, 13), thin enamel structure (7), tendency to decay (7, 23). brown pigmentation, tooth loss and gingival bleeding (26), were reported.
Ezel Yavuzyilmaz\ Nermin Yamalik\ Sevgi Yetgin' and 6zden Kansu^ Departments of 'Periodontology, ^Pediatrics, 'Oral Diagnosis and Radiology. University of Hacettepe. Ankara, Turkey
Key words: dyskeratosis congenita: mouth, diseases Dr, Ezel Yavuzyilmaz, Department of Periodontology, Faculty ot Dentistry, University ot Hacettepe, 06100 Ankara, Turkey Accepted tor publication January 26, 1992,
We wish to describe a new case of DCG associated with paticytopenia, growth retardation, allopecia, mental retardation, microcephaly and severe alveolar bone loss resembling juvenile periodontitis in a 13-yr-old white female. Case report A 13-yr-old girl with allopecia and growth retardation was adtnitted to the Children Hospital of Hacettepe University. At the titne of adtnission she was weighing 25 kg (normal: 34.6 63.3) and was 132 ctn (normal: 144,5 168) tall. Her parents stated that she had a longtertn growth retardation problem and she had started to speak and walk late, when cotnpared to her age-trtatched friends. Her parents' marriage was not consanguineous and both her parents and elder sister were normal in health. The family appeared to be soeio-culturally deficient, I h e patient had had the usual childhood illnesses, with no history of allergies. The history revealed that she had had several episodes of epistaxis of both nostrils in the previous 3 yr. In her physical examination she presented microcephaly. The circutntcrence of her head was 46 cm (normal: 53 cm). She had mental difficulties and therefore educational probletns at school, since her intelligence quotient was consistent with that of a 6-yt-old. Her hair, eye-lids and eye-brows were all very weak, thin and scattered (Fig. 1). .She had irregular and grossly deformed fingernails and toenails whieh were brittle, cracked and pitted and grew very slowly (Fig. 2). On the buccal
Oral ftndings in dyskeratosis congenita
281
Fig. 3. Overall appearance of gingiva. There is marked edema. Also gingival recession at mandibular eentral ineis^^rs and caries on the buccal aspects of incisor teeth can be noticed.
Fi^. I. 13-yr-old girl compalining of allopecia and growth rclaidation with IX'Ci Hair, eyelids and eye-brows arc \cry weak, short and sparcc.
mucosa leukokcratosis was present. The skin of the face, primarily in the cheek region, was teleangiectatic, Ihe .secondary sexual characteristics were not welldeveloped and livedo reticularis was noticed in her legs. On the date of admission hemoglobin was 8,52 g/dl: white blood cell count: 3000/tnm': platelets: VdOOO, mm': red blood cell count: 2,6(K).0()l)/mm': mean red blood eell volume: 97 u/L: HbF: 2%: HbA,: 2,6';;,, Red blood cells were nonnochromic-normocyter, l-xamination of the bone marrow revealed fatty replacement, .Serum immunoglobulin levels were as follows: IgA: 515 mg/ dl (normal = 37 138): IgM: 290 tng'dl (normal = 35 120): lgCi: 289 m g d l (normal:-300 1200), C, C, and CH .M) levels were within normal limits. No pa-
thology could be detected in esophagus atid inttavenous pyelography, Ba.sed on the examinations performed the patient was diagnosed as having DCG by the pediatricians and was referred to the dental faculty for oral-dental examinations. Oral findings
Caries was present on the buccal aspects of the tnaxillary incisors. Between the maxillary and mandibular central incisors prominent diastemas existed. The left mandibular first molar was tnissing. Second tnolars were not present neither in the mouth nor in the radiographs. The oral hygiene was poor with an abundant materia alba and bacterial plat]lie accumulation, I he overall appearance of the gingiva was edematous and erythetnatous (Fig. 3), The gingiva tended to bleed easily, Ciingival recessions were present being most evident at the mandibular left central incisor and maxillary left fitst pre-
Fig. 2. Significanl nail dystrophy is evident. Nails are pilted. cracked and grow very slowly.
Fig. 4. Lcukokeratotic lesion, resistant to rubbing, can be seen on left buccal region.
molar. Mobility of various degrees was detected in many teeth. The mandibular central incisors and the first molar teeth presented the highest degree of mobility. The mucosa of the tongue was atrophie. smooth and shiny. On the right buccal region, leukokeratotic lesions in the form of irregular, white patches were noticed (Fig. 4). These areas were resistant to rubbing. A radiographic survey revealed severe alveolar bone loss mostly localized in the mandibular incisor area and first molar areas. Moderate amount of bone loss also detected in the remaining teeth (Fig. 5), The existing pattern of bone loss was both angular and horizontal. The alveolar bone loss in the maxillary left first molar was so severe
fig. y Moder.uc .luiouiu of alvevilar bone loss noticed in ma\illar\ lefl incisor teeth.
282
YAVtJZYit.MAZ et al.
Fig 6. Significant alveolar bone loss delected in maxillary left premolar-molar area, [.eft first molar, e.xhibitmg furcation involvement, seems to be afieclcd more than the olhcr teclh. Roots arc short and blunted.
that it was nearly reaching the tooth apices, also involving the furcation area, indicating the presence of a periapicalendodoniic problem (Fig. 6). Similar severe bone loss was seen in the right maxillary first molar affecting primarily the mesial root (Fig, 7). Lamina dura could not be followed and a widening of the periodontal ligament and the pre.sence of a periapical problem could be noticed in the radiographic examination. An angular type of bone loss was seen in the left mandibular eentral ineisor (Fig, 8), Also shortened, somewhat
blunted apices were observed in many teeth. The pulp of most Iccth seemed to be thin, A tooth germ in the mandibular left area was also noticed. The panoromic radiogram also confirmed the alveolar bone loss detected in the periapical radiographs.
Discussion D C G is still a rare genetic disorder, the m o d e of inheritance is somewhat controversial (2. 3. 11. 13. 16), The ex-
Fig 7 Severe alveolar bone loss affecting primarily mesial root of maxillary right first molar
ttemely low percentage of aflected wotnen is unexplained (13), The postulate that the abnortnalities of DCG are part of FA is generally not accepted (13. 17). In spite of many overlapping features between the two diseases, still there are differences which help to separate one from the other. Skeletal abnormalities, very common in FA, have not been reported in DCG (4, 5. 17. 23). Common findings in DCG such as tooth dystrophy, obstructions in tear duct orifice, hyperhydrosis of palms and soles, and leukoplakia of mucous membranes are rarely, if ever, seen in classical FA (4. 5. 23. 24). Increased frequency of breakage of chromosomal abberations does not seem to be associated with DCt; (3. 5. 11. 13. 16. 22), however, chromatoid breaks in DCG have been reported in two studies (1. 25). It has been suggested that transition fealures between DCG and IA exists and ihcte is evidence ol' transient cases (17. 23). The association of mucocutaneous symptoms with hetnatologic symptoms is typical in DCCi. but usually the cutaneous tnanifestations appear first (3, 16), However, in a patient with DCG, thrombocytopenia was reported to be the first symptotn and was an isolated problem for 3 yr (3). In our rate fetnale case, prominent nail dystrophies and oral letikokeratosis wete evidetit. The thirtl major dermatologic finding, hyperpigmentation. was not seen and was considered to possibly occur subsequently, Allopecia. tcleaiigicctacia. growth retardation, mental retardation, pancytopenia and bone marrow degeneration arc the other findings which are le-
A' Kailiogiaphic appearance of mandihular righl iiici,sor area leclh have short, blunted apices Also angular type of alveolar bone loss can be noticed.
Oral findings in dyskeratosis congenita 283 ported to be associated with DCG (4-6, 10, 12. 17). All of these symptoms were present in our case. Additionally, there was evidence of mierocephaly. The circutnlerence of the head was in consistency with that of l-yr-age. This was considered as an interesting findings, since as far as we are concerned, microcephaly in DCG has only once been reported before (11). The history revealed that she had had episodes of epistaxis. Similar findings were reported in previous studies (5. 13. 14, 16). This is possibly due to the patients" underlying hematologic disorders sinee hematologic disorders usually occur relatively often in DCG (6. 13. 16. 17). An increase in itntnunoglobulin levels (IgA and IgM) and a non-tesponsiveness in the cellular immunity was also detected in the present case. Elevated IgG and IgM levels (9) and elevated IgA and IgG levels (24) were also detnonstrated. In patients with DCG, although rare, humoral and eellular immune deficiencies have been reported (6, 16), It has been suggested that the morphologic picture supports that there is a defect in the cell-mediated itnmune system (20). The poor diagnosis has also been attributed to the cellular immune deficiency (20). Furthertnore, elevated itnmunoglobulin levels and dysphagia have been associated with cases which develop pancytopenia or malignant changes (16, 24). In the studies which have dealt with the oral and dental findings of DCG severe alveolar bone loss resetnbling juvenile periodontitis (13). gingival inflammation (13, 15), tendeticy to decay (7, 23), gingival bleeding (26) and destruction of alveolar tnargins (22) weie reported. In the intraoral exatnination. besides the buecal leukokeratotic lesions, caries formation, gingival rece.ssion, tooth mobility, severe gingival inflamrnation and bleeding on probing was notieed. The tadiographic examination revealed different degrees of alveolar bone loss mostly alTecting the incisors and first molar teeth. The patterns of alveolar bone loss was both angular and horizontal. The selectivity of the involved teeth and the pattern of bone loss resembled juvenile periodontitis. Sitnilar elinical and radiographic findings have previously been reported in a case with DCG (13), In a syndrome in which anomalies of several ectodertnally derived structures existed, the possibility of inherent defects of dental organ, epithelial
attachment, etc.. could be considered (13). The thin enamel structure of teeth from patients with DCG may support this theory (7). Based on the clinical dental findings of the presented cases with severe alveolar bone loss, it can be postulated that a type of bone loss occurs it! patients with DCG, in many ways similar to that seen in juvenile periodontitis. Short-blunted roots were present in our case. Similar findings were reported in a previous case (13). The second molars had not developed and the pulp of most of the teeth seemed to be thin. The morphologic anomalies of hard atid soft tissues of the oral cavity which are associated with DCG are not well documented and further studies will itnprove our present knowledge in this concept. Even when there is no hematologic disturbatice and no evidenee of malignant change within the mucous membraties, there always remains the potential for such change in DCG (24). Therefore, these patients are recommended to be closely tnonitored (3, 5, 6. 14). The patient in our ca.se was given Anabolizan and prednisolone and additionally a local periodontal treatment including scaling, root planing and curettage, was perfortned. The patient and the parents were also tnotivated for the importance of the maintenance of good oral hygiene. It has been observed that the patient is responding to this mode of treatment in a good manner. The patient is now periodically tnonitored for possible dertnatologic, hematologic. malignant and dental changes. This partieular ease of DCG suggests that the dentists should be aware of the oral-dental findings in this rare disease, especially the resetnblance of the pattern of alveolar bone loss to that seen in juvenile periodontitis. besides the general symptoms. As mentioned by previous authors (3. 5. 6. 14, 24). we also suggest the close monitoring of the DCG patients, for possible malignant changes in the oral cavity. References 1. ANCilJIAR-MARTtNEZ. ECENARRO L J M .
GoN/Atts UF. Gtt. MCC. RotiRtcu:/ PG. I'l RK/ AG, Cytogenetic abnormalities in dyskeratosis congenita Report of five cases, C7i>i Exp Dermatot 1988: 13: 1(X) 4, 2, Di:BAiinit: DM. SiiASttintiAR-PAi G. SrANia Y WS, Enhanced G. chromatid radioscnsitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet 1990: 46: 350 7,
3. D E B O E C K K . D E G R E E E H . VERWiLGHEN R. CoRBEEL L. CASTEEUS-VAN D A E L E M .
Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. Pediatrics 1981: 67: 898-903. 4. GoRLiN RJ. PINDBORG JJ. COHEN MM.
Svndromes of the head and neck. New York: McGraw Hill. 1976: 258-60. 5. IoNUE S. MEKANIK G . MAHALLATI M .
ZuELZER WW. Dyskeratosis congenita with pancytopenia: another constitutional anaemia. .4m J Dis Child 1973: 126: 389-96, 6. KoRZ R. WiENERT V. KNECHTEN H . Dyskeratosis congenita (Zins.ser-Engman-Cole-Syndrom) und Fanconi-Anamie. Der Hautart: 1982: 33: 112-4. 7. LoH HS. KoH ML. GIAM YC. Dyskera-
tosis congenita in two male causins. Br J Oral Maxdhfac Surg 1987: 25: 492 9. 8. Ri'sso CL. GLAIIER
BE. ISRAEL
RJ.
Gt.AS.so F. Treatment of neutropcnia associated with dyskeratosis congenita with granulocyte-macrophage colonyStimulating factor, luvicct 1990: 336: 7.M-2. 9. ScHNEttiER A. MAYER I ' . GEBHART E ct
al. Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia, Eur J Pediatr 19088: 148: 37 9. 10, SHAFt:R WG. HtNE MK. LFVY BM, A texthook ot oral pathology. Philadelphia: Saunders. 1983: 824^5, 1 1, SHASHtOHAR-PAI G. MoRtiAN S. WHETSELL G. Etiologic heterogeneity in dyskeratosis congenita. Am J Med Genet 1989: 32: 63 6, 12. SORROW JM. Hiti, C. H I T ™ JM. Dys-
keratosis congenita: First report of its occurence in a female and a review of tho literature. Arch Dermatoi 1963: 88: 340 7, 13. WAI 11 C. DINER H , Dyskeratosis congenila with associated periodontal disease. Oral Surg Oral Med Oral Pathol 1974: 37: 736-44. 14. BRYAN HG. NtxoN RK. Dyskeratosis congenita and familial pancytopenia. J .4m Mcd Assoc 1965: 1982: 203-8. 15. PARI AR A. OVGOR T DEMiR O. GAZio6-
1 ti O. Oral findings in dyskeratosis congenita: a case report, Periodont Ca.ic Rep 1991: 13: 7 - n , 16. SiRiNAViN C. TkowBRiDGE AA. Dyskcratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. J Med Genet 1975: 12: 3.39-54. 17. STEIER W. VAN VOOLEN GA. SELMANOWJ-
Tz VJ, Dyskeratosis congenita: relationship to Fanconi's anemia. Blood 1972: .W: 5tO 21 18. DAVtt:)SON HR. CONNOR JM. Dyskeratosis congenita. J Med Genet 1988: 25: 843 6. 19. Dl'PRFY P.\. STFCER JW, .\n unusual case of dyskeratosis congenita with intracranial Citlcifications. J Am Acad Dermatoi 1988: 19: 760 2. 20.
KAWAGUCHt K. SAKAMAKI H . ONOZOWA
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Y, KotKE M. Dyskeratosis congenita 22. SINGH K, Kot-OLOPUEt W. Dyskeratosis (Zinsser-Cole-Engman-Syndrotne) an congenita: Report of the first case from autopsy case presenting case rectal carciIndia. J Dermatoi 1986; 13: 54-8. noma, non-cirrhotic portal hypertension, 23. SALMANOWtTZ VJ, VAN VOOLEN G A , and pneumocystis carinii pneumonia. STEtTER W. Fanconi's anemia and dyskVirchow Arch A Pathol Anat 1990: 417: eratosis congenita. JAMA 1971; 216: 247-53. 2015. 24. OGDEN GR, CONNOR E, CHISHOLM 21 JORGENSEN RJ. The conditions manifestDM. Dyskeratosis congenita: Report of ing taurodontism. Am J Med Genet 1982; a case and review of the literature. Oral II: 435-42.
Surg Oral Med Oral Pathol 1988; 65: 586-91. 25. SCHAUMFUSS v s , SCHOLZ A , PESCHECK
T, HERRMANN R. Zinsser-Engman-Cole-
Syndrome bei 2 brudern. Dermatoi Monats.Khr 1982; 172: 201-8. 26. PERWEIN E, SPEER U . Zinsser-Engman-
Cole-Syndrom (Dyskeratosis congenita) Der Hautart- 1985: 36: 594-6.
Oral-dental findings in dyskeratosis congenita Yavuzyilmaz E. Yamalik N. Yetgin S. Kansu O: Oral-dental findings in dyskeratosis congenita, J Oral Pathol Med 1992: 21: 280-284, A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia. growth retardation, allopecia. mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.
Dyskeratosis congenita (DCG) is a rare congenital and familial disorder characterized by the triad of retieular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membranes, and it is often associated with severe pancytopenia (I 13). DCG usually starts between the ages of 5 12 years with dermatologic symptoms (3). The mode of genetic transmission is unknown, but it mainly affects males (4. 5. 12. 14, 15 17). DCG has long been accepted as a hereditary disorder, but the mode of inheritance remains uncertain (2, 3, 11, 14, 16). X-linked recessive, autosomal dominant and autosomal recessive transmission having all been proposed (18). In patients with DCG generalized growth retardation and fragility exist (4, 17, 19). The importance of this syndrome lies in the high incidence of pancytopenia and eutaneous and mucosal carcinomas which develop in young affected adults (10, 16, 20) and the presence of opportunistic infections (16, 18, 20). Most patients die in their teens, twenties or thirties: most deaths occur following progressive bone marrow involvement with pancytopenia or malignancy (20). Pigmentation of the skin and dystrophy and atrophy of the nails are the most frequent manifestations (5, 10. 13, 15. 16. IS. 20), Leukoplakia may occur on various mucous membranes and become malignant (5, 13, 17). Lichen planus or Iichenoid lesions, instead of leukoplakia. in the oral cavity may also develop (7), The skin may become atrophie and teleangiectatic and the face appears red (10. 15. 17), The degree of
teleangiectatic erythema varies between cases (17). Although the principal clinical findings of this conditions are described as a triad, there is a high association of hematopoietic abnormalities with this syndrome (5. 6, 14, 15, 17. 18). The earliest sign may be either aneiTiia or thrombocytopenia. but ultimate progression to pancytopenia is usual (18). Because of the hetnatologic disorders and congenital defects that occur in DCG (12, 17), many investigators have been struck by the resemblance of DCG to Fanconi's anemia (FA) (5, 6, 10, 14). While the abnormalities were suggested to be considered as a further variant of FA. still several differences exist which help to separate one from the other (17). Occasional cases of DCG, have also been reported with a wide spectrum of other minor manifestations including mental retardation, small sella turcica. dysphagia. transparent tympanic membranes, deafness, epiphora, urethral anomalies, small testes. dental abnormalities, hyperhydrosis of the paltrts and soles, hepatic abnormality, signet ring carcinoma, atrophy of the frontal lobes and extensive intracranial calcifications (10, 19, 20). There are several studies whieh have dealt with the oral and dental findings of DCG, Destruction of alveolar tnargins (22). gingival inflammation (13. 15), .severe alveolar bone loss resembling juvenile periodontitis (13). hypomineralized teeth (16), taurodontism (21). short-blunted roots (7, 13), thin enamel structure (7), tendency to decay (7, 23). brown pigmentation, tooth loss and gingival bleeding (26), were reported.
Ezel Yavuzyilmaz\ Nermin Yamalik\ Sevgi Yetgin' and 6zden Kansu^ Departments of 'Periodontology, ^Pediatrics, 'Oral Diagnosis and Radiology. University of Hacettepe. Ankara, Turkey
Key words: dyskeratosis congenita: mouth, diseases Dr, Ezel Yavuzyilmaz, Department of Periodontology, Faculty ot Dentistry, University ot Hacettepe, 06100 Ankara, Turkey Accepted tor publication January 26, 1992,
We wish to describe a new case of DCG associated with paticytopenia, growth retardation, allopecia, mental retardation, microcephaly and severe alveolar bone loss resembling juvenile periodontitis in a 13-yr-old white female. Case report A 13-yr-old girl with allopecia and growth retardation was adtnitted to the Children Hospital of Hacettepe University. At the titne of adtnission she was weighing 25 kg (normal: 34.6 63.3) and was 132 ctn (normal: 144,5 168) tall. Her parents stated that she had a longtertn growth retardation problem and she had started to speak and walk late, when cotnpared to her age-trtatched friends. Her parents' marriage was not consanguineous and both her parents and elder sister were normal in health. The family appeared to be soeio-culturally deficient, I h e patient had had the usual childhood illnesses, with no history of allergies. The history revealed that she had had several episodes of epistaxis of both nostrils in the previous 3 yr. In her physical examination she presented microcephaly. The circutntcrence of her head was 46 cm (normal: 53 cm). She had mental difficulties and therefore educational probletns at school, since her intelligence quotient was consistent with that of a 6-yt-old. Her hair, eye-lids and eye-brows were all very weak, thin and scattered (Fig. 1). .She had irregular and grossly deformed fingernails and toenails whieh were brittle, cracked and pitted and grew very slowly (Fig. 2). On the buccal
Oral ftndings in dyskeratosis congenita
281
Fig. 3. Overall appearance of gingiva. There is marked edema. Also gingival recession at mandibular eentral ineis^^rs and caries on the buccal aspects of incisor teeth can be noticed.
Fi^. I. 13-yr-old girl compalining of allopecia and growth rclaidation with IX'Ci Hair, eyelids and eye-brows arc \cry weak, short and sparcc.
mucosa leukokcratosis was present. The skin of the face, primarily in the cheek region, was teleangiectatic, Ihe .secondary sexual characteristics were not welldeveloped and livedo reticularis was noticed in her legs. On the date of admission hemoglobin was 8,52 g/dl: white blood cell count: 3000/tnm': platelets: VdOOO, mm': red blood cell count: 2,6(K).0()l)/mm': mean red blood eell volume: 97 u/L: HbF: 2%: HbA,: 2,6';;,, Red blood cells were nonnochromic-normocyter, l-xamination of the bone marrow revealed fatty replacement, .Serum immunoglobulin levels were as follows: IgA: 515 mg/ dl (normal = 37 138): IgM: 290 tng'dl (normal = 35 120): lgCi: 289 m g d l (normal:-300 1200), C, C, and CH .M) levels were within normal limits. No pa-
thology could be detected in esophagus atid inttavenous pyelography, Ba.sed on the examinations performed the patient was diagnosed as having DCG by the pediatricians and was referred to the dental faculty for oral-dental examinations. Oral findings
Caries was present on the buccal aspects of the tnaxillary incisors. Between the maxillary and mandibular central incisors prominent diastemas existed. The left mandibular first molar was tnissing. Second tnolars were not present neither in the mouth nor in the radiographs. The oral hygiene was poor with an abundant materia alba and bacterial plat]lie accumulation, I he overall appearance of the gingiva was edematous and erythetnatous (Fig. 3), The gingiva tended to bleed easily, Ciingival recessions were present being most evident at the mandibular left central incisor and maxillary left fitst pre-
Fig. 2. Significanl nail dystrophy is evident. Nails are pilted. cracked and grow very slowly.
Fig. 4. Lcukokeratotic lesion, resistant to rubbing, can be seen on left buccal region.
molar. Mobility of various degrees was detected in many teeth. The mandibular central incisors and the first molar teeth presented the highest degree of mobility. The mucosa of the tongue was atrophie. smooth and shiny. On the right buccal region, leukokeratotic lesions in the form of irregular, white patches were noticed (Fig. 4). These areas were resistant to rubbing. A radiographic survey revealed severe alveolar bone loss mostly localized in the mandibular incisor area and first molar areas. Moderate amount of bone loss also detected in the remaining teeth (Fig. 5), The existing pattern of bone loss was both angular and horizontal. The alveolar bone loss in the maxillary left first molar was so severe
fig. y Moder.uc .luiouiu of alvevilar bone loss noticed in ma\illar\ lefl incisor teeth.
282
YAVtJZYit.MAZ et al.
Fig 6. Significant alveolar bone loss delected in maxillary left premolar-molar area, [.eft first molar, e.xhibitmg furcation involvement, seems to be afieclcd more than the olhcr teclh. Roots arc short and blunted.
that it was nearly reaching the tooth apices, also involving the furcation area, indicating the presence of a periapicalendodoniic problem (Fig. 6). Similar severe bone loss was seen in the right maxillary first molar affecting primarily the mesial root (Fig, 7). Lamina dura could not be followed and a widening of the periodontal ligament and the pre.sence of a periapical problem could be noticed in the radiographic examination. An angular type of bone loss was seen in the left mandibular eentral ineisor (Fig, 8), Also shortened, somewhat
blunted apices were observed in many teeth. The pulp of most Iccth seemed to be thin, A tooth germ in the mandibular left area was also noticed. The panoromic radiogram also confirmed the alveolar bone loss detected in the periapical radiographs.
Discussion D C G is still a rare genetic disorder, the m o d e of inheritance is somewhat controversial (2. 3. 11. 13. 16), The ex-
Fig 7 Severe alveolar bone loss affecting primarily mesial root of maxillary right first molar
ttemely low percentage of aflected wotnen is unexplained (13), The postulate that the abnortnalities of DCG are part of FA is generally not accepted (13. 17). In spite of many overlapping features between the two diseases, still there are differences which help to separate one from the other. Skeletal abnormalities, very common in FA, have not been reported in DCG (4, 5. 17. 23). Common findings in DCG such as tooth dystrophy, obstructions in tear duct orifice, hyperhydrosis of palms and soles, and leukoplakia of mucous membranes are rarely, if ever, seen in classical FA (4. 5. 23. 24). Increased frequency of breakage of chromosomal abberations does not seem to be associated with DCt; (3. 5. 11. 13. 16. 22), however, chromatoid breaks in DCG have been reported in two studies (1. 25). It has been suggested that transition fealures between DCG and IA exists and ihcte is evidence ol' transient cases (17. 23). The association of mucocutaneous symptoms with hetnatologic symptoms is typical in DCCi. but usually the cutaneous tnanifestations appear first (3, 16), However, in a patient with DCG, thrombocytopenia was reported to be the first symptotn and was an isolated problem for 3 yr (3). In our rate fetnale case, prominent nail dystrophies and oral letikokeratosis wete evidetit. The thirtl major dermatologic finding, hyperpigmentation. was not seen and was considered to possibly occur subsequently, Allopecia. tcleaiigicctacia. growth retardation, mental retardation, pancytopenia and bone marrow degeneration arc the other findings which are le-
A' Kailiogiaphic appearance of mandihular righl iiici,sor area leclh have short, blunted apices Also angular type of alveolar bone loss can be noticed.
Oral findings in dyskeratosis congenita 283 ported to be associated with DCG (4-6, 10, 12. 17). All of these symptoms were present in our case. Additionally, there was evidence of mierocephaly. The circutnlerence of the head was in consistency with that of l-yr-age. This was considered as an interesting findings, since as far as we are concerned, microcephaly in DCG has only once been reported before (11). The history revealed that she had had episodes of epistaxis. Similar findings were reported in previous studies (5. 13. 14, 16). This is possibly due to the patients" underlying hematologic disorders sinee hematologic disorders usually occur relatively often in DCG (6. 13. 16. 17). An increase in itntnunoglobulin levels (IgA and IgM) and a non-tesponsiveness in the cellular immunity was also detected in the present case. Elevated IgG and IgM levels (9) and elevated IgA and IgG levels (24) were also detnonstrated. In patients with DCG, although rare, humoral and eellular immune deficiencies have been reported (6, 16), It has been suggested that the morphologic picture supports that there is a defect in the cell-mediated itnmune system (20). The poor diagnosis has also been attributed to the cellular immune deficiency (20). Furthertnore, elevated itnmunoglobulin levels and dysphagia have been associated with cases which develop pancytopenia or malignant changes (16, 24). In the studies which have dealt with the oral and dental findings of DCG severe alveolar bone loss resetnbling juvenile periodontitis (13). gingival inflammation (13, 15), tendeticy to decay (7, 23), gingival bleeding (26) and destruction of alveolar tnargins (22) weie reported. In the intraoral exatnination. besides the buecal leukokeratotic lesions, caries formation, gingival rece.ssion, tooth mobility, severe gingival inflamrnation and bleeding on probing was notieed. The tadiographic examination revealed different degrees of alveolar bone loss mostly alTecting the incisors and first molar teeth. The patterns of alveolar bone loss was both angular and horizontal. The selectivity of the involved teeth and the pattern of bone loss resembled juvenile periodontitis. Sitnilar elinical and radiographic findings have previously been reported in a case with DCG (13), In a syndrome in which anomalies of several ectodertnally derived structures existed, the possibility of inherent defects of dental organ, epithelial
attachment, etc.. could be considered (13). The thin enamel structure of teeth from patients with DCG may support this theory (7). Based on the clinical dental findings of the presented cases with severe alveolar bone loss, it can be postulated that a type of bone loss occurs it! patients with DCG, in many ways similar to that seen in juvenile periodontitis. Short-blunted roots were present in our case. Similar findings were reported in a previous case (13). The second molars had not developed and the pulp of most of the teeth seemed to be thin. The morphologic anomalies of hard atid soft tissues of the oral cavity which are associated with DCG are not well documented and further studies will itnprove our present knowledge in this concept. Even when there is no hematologic disturbatice and no evidenee of malignant change within the mucous membraties, there always remains the potential for such change in DCG (24). Therefore, these patients are recommended to be closely tnonitored (3, 5, 6. 14). The patient in our ca.se was given Anabolizan and prednisolone and additionally a local periodontal treatment including scaling, root planing and curettage, was perfortned. The patient and the parents were also tnotivated for the importance of the maintenance of good oral hygiene. It has been observed that the patient is responding to this mode of treatment in a good manner. The patient is now periodically tnonitored for possible dertnatologic, hematologic. malignant and dental changes. This partieular ease of DCG suggests that the dentists should be aware of the oral-dental findings in this rare disease, especially the resetnblance of the pattern of alveolar bone loss to that seen in juvenile periodontitis. besides the general symptoms. As mentioned by previous authors (3. 5. 6. 14, 24). we also suggest the close monitoring of the DCG patients, for possible malignant changes in the oral cavity. References 1. ANCilJIAR-MARTtNEZ. ECENARRO L J M .
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