rieger syndrome: a case report

DIMITRAKOPOULOS, VOYATZIS, AND KATOPODI 517

5. Kooper DP, Tiwari RM, van der Valk P: Castleman’s disease as an uncommon cause of a neck mass. Eur Arch Otorhinolar yngol 25 1:370, 1994

6. Evans DJ: Generalised lymphadenopathy with morphological features of Castleman’s disease in an HIV positive man. Can- cer 60~2454, 1987

7. Weisenburger DD, Nathwani BN, Winberg CD, et al: Multicen- tric angiofollicular lymph node hyperplasia: A clinicopatho- logical study of 16 cases. Hum Path01 16:162, 1985

8. Fizzera G: Castleman’s disease: More questions than answers. Hum Path01 16:202, 1985

9. Tagami H, Sagawa K, Imanura S, et al: Severe erosive stomatitis and giant lymph node hyperplasia of the retroperitoneum (Castleman’s tumour). Dermatologica 157: 138, 1978

!O. Ashinoff R, Cohen R, Lipkin G: Castleman’s tumour and erosive lichen planus: Coincidence or association? Report of a case. J Am Acad Dermatol 21:1076, 1989

Il. Bera G, Masserelli G, Banks PM: A systemic lymphoprolifera- tive disorder with morphological features of Castleman’s disease. Am J Surg Path01 7:211, 1983

12. Anand VK, House JR: Isolated Castleman’s disease in the neck. Ear Nose Throat J 68:864, 1989

13. Castleman B, Iverson L, Pard Mendenez V: Localised mediasti- nal lymph node hyperplasia resembling thymoma. Cancer 9:822, 1956

14. Fizzer G: Castleman’s disease and related disorders. Semin Di- agn Path01 5:346, 1988

15. Dubey SP, Roy Chaudhuri BK, Roy S, et al: Castleman’s disease in the cervical lymph node. J Ind Med Assoc 90:298, 1992

!6. Lattes R, Patcher MR: Benign lymphoid masses of probable hamartomatous nature. Cancer 15: 197, 1962

17. Daley M, Cornog JR: Pelvic retroperitoneal lymphoid hamar- toma. J Urol 97:235, 1967

18. Fitzpatrick PJ, Brown TC: Angiofollicular lymph node hyperplasia. Can Med Assoc J 99:1259, 1968

19. Osclamp G, Welsbrod G, Sanders D, et al: Castleman’s disease: Unusual manifestations of an unusual disorder. Radiology 135:45, 1980

20. Gleeson MJ, Cassidy M, McMullin JP: Castleman’s disease: An unusual neck mass. J Laryngol Otol 102:661, 1988

21. Climie ARW, Waggoner LG, Krabbenhoft KL: Lymphoid ha- martoma of the larynx. Laryngoscope 74: 1381, 1964

22. El Messaoudi A, El Edghiri H, Lazrak A, et al: La maladie de Castleman: A propos de deux localisations cervical. Rev de laryngoscopie 114: 189, 1993

23. Rotenberg M, Charial JP, Cauchois R, et al: La maladie de Castleman: Apropos de deux observations O.R.L. Ann Otola- ryngol 107:490, 1990

24. Cavallaro A, Desiato R, Fabian0 A, et al: 11 linfomo di Cas- tleman: Descizione di un case a localizzazione narotidea. Chir Pat Sper 33:113, 1985

25. Woolgar JA, Hook PCG: Aneiofollicular lvmuhnode hvnernla- sia-of the’ parotid. Br J Or% Maxillofac+Suig 29: 19g,& 1991

26. Prasad H, Sankaran V, Raman ML, et al: Giant lymphnode hyperplasia of the parotid region. Ind J Path01 Microbial 31:68, 1988

27. Leocata P, Corbacelli A, Chiominto A, et al: Unicentric angiofollicular hyperplasia (Castleman’s disease) of the parotid. Oral Surg Oral Med Oral Path01 81:328, 1996

28. Siefert G, Michlke A, Haubrich J, et al: Diseases of the Salivary . Glands. Stuttgart, Germany, Thieme, 1986, pp 302-314

29. Pittam M. Thomas J: Diseases of the nreauricular lvmuh nodes mimicking parotid tumours. Br J &rg 74:1172,-19i7

J Oral Maxillofac Surg 55:517-521, 1997

Rieger Syndrome: A Case Report JOHN DIMITRAKOPOULOS, MD, DDS,* NICK VOYATZIS, MD, PtiD,t

AND THEODORA KATOPODIS

Malformations of the anterior chamber of the eye constitute a group of rare inherited disorders characterized by a spectrum of variable ocular manifestations, some of which can be associated with different systemic findings. l-4 Rieger anomaly is a very rare autoso- ma1 dominantly inherited disorder in this group exhib- iting eye malformations only, such as hypoplasia of the iris, anterior synechiae (iridocorneal adhesions),

Received from the Department of Oral and Maxillofacial Surgery, Aristotle University of Thessaloniki, Greece.

* Assistant Professor, Department of Oral and Maxillofacial Sur- gery.

t Medical Genetist, Laboratory of Genetics, B’ Department of Pediatrics.

$ Biologist, Laboratory of Genetics, B’ Department of Pediatrics. Address correspondence and reprint requests to Dr Dimitrako-

poulos: Pavlou Mela 28, 546 22 Thessaloniki, Greece.

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0278-2391/97/5505-0017$3.00/O

and a prominent anteriorly displaced Schwalbe’s ring. Other significant ocular findings may be cornea1 defects and pupillary and lens anomalies.1”35 These eye defects cause increased intraocular pressure resulting in glaucoma in approximately 50% of the patients, a condition that is usually resistant to medical therapy and can lead to blindness.1-4.6,7

If the strictly ocular Rieger anomaly is combined with extraocular abnormalities such as dental, craniofacial, and other developmental somatic defects, it is termed the Rieger syndrome.1-438 This condition also has autosomal dominant inheritance and its frequency has been estimated as 1 per 200,000 population.”

Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber malformations (Axenfeld’s anomaly, Peter’s anomaly, Rieger’s anomaly, or goniodysgenesis associated with juvenile glaucoma).2*11,12 The predominant dental anomaly is con-

518 RIEGER SYNDROME: A CASE REPORT

FIGURE 1. Relative prognathic appearance, with anterior maxillary hypoplasia and mild telecanthus. A, frontal view. B, lateral view.

genitally missing teeth in both the deciduous and permanent dentitions. Maxillary incisors and canines are the teeth most often absent, with second premolars occassionally missing. Other associated tooth abnormalities are enamel hypoplasia, conical-shaped teeth, shortened roots, taurodontism, and delayed erup- tion. 3,6,10,11,13,14

Abnormalities of the craniofacial skeleton are another common feature of the syndrome. Maxillary hypoplasia caused by facial skeletal growth deficiency promotes a mild prognathic profile.33’0~“3133’5 Enlarge- ment of the sella turcica has been detected in patients with Rieger syndrome, but it is not always associated with pituitary dysfunction.16-19

The affected persons often have a characteristic fa- ties, with a broad, flat nasal bridge, flattening and

FIGURE 2. Panoramic radiograph showing absence of the upper incisors and canines, and the lower left second premolar. Shortened roots of the lower right second premolar and the canines are also noted.

shortening of the middle part of the face, and a protrud- ing lower lip associated with recession of the upper lip. 3,g-11 Mild telecanthus, with or without ocular hypertelorism, is present in about 40% of patients. Hypopla- sia of the mandible and prognathism have also been noted. 2,5,10,11.15

In addition to dental and craniofacial abnormalities, a wide spectrum of systemic anomalies have been described in patients with the Rieger syndrome.3,‘0 Most frequent is failure of the periumbilical skin to involute, which is considered as one of the cardinal features 3,9,11,13,14

The purpose of this report is to present a case of Rieger syndrome with classical ocular, craniofacial,

FIGURE 3. Cephalometric tracing illustrating hypoplasia of the anterior maxillary region, underdevelopment of the posterior cranial base, reduced lower facial height, and mandibular prognathism (1, nasion; 2, sella; 3, basion; 4, ANS; 5, PNS; 6, A-points, 7, B-points; 8, pogonion: 9, menton).

DIMITRAKOPOULOS, VOYATZIS, AND KATOPODI 519

and dental findings, and to emphasize the crucial role of the oral and maxillofacial surgeon in the diagnosis of this condition because the coexisting facial skeletal abnormalities may lead the affected person to seek surgical correction of the involved facial skeletal abnormalities.

Report of Case

A 23-year-old white woman was referred by her dentist to the Oral and Maxillofacial Surgery Department for evaluation and possible correction of her underdeveloped upper jaw. On clinical examination, the patient showed a supra- apical anterior maxillary hypoplasia with a relative mandibular prognathism. A shortened philtrum with a receding upper lip, a pronounced lower lip, and mild telecanthus were also noted (Fig 1).

Intraoral examination showed the absence of the maxillary incisor and canine teeth, there was no history of previous extraction or trauma. The patient stated that these teeth had never erupted and that she had been wearing a bridge from the age of 16 years. The premaxillary area was severely underdeveloped because of the existing hypodontia.

Radiographic examination showed that in addition to the missing anterior maxillary teeth, the lower left second deciduous molar was retained, and the second premolar was also congenitally missing. The mandibular right second premolar as well as the mandibular canines had shortened roots (Fig 2).

A cephalometric tracing (Fig 3) and analysis indicated anterior maxillary hypoplasia, lower facial height deficiency, underdevelopment of the posterior cranial base, and mandibular prognathism (Table 1). The sella turcica had typical morphology.

The patient’s medical history showed that she had glaucoma and had been treated by her ophthalmologist since the age of 7 years, he had made the diagnosis of Rieger anomaly.

Table 1. Cephalometric Analysis of Case Report

Measurements Normative

Value.? Patient Difference

Linear (mm) Sella-nasion Sella-basion Nasion-ANS ANS-menton ANS-PNS A-point-PNS PNS-B-point Angular (degrees) SNA SNB ANB Facial angle Angle of convexity

74.3 73.1 -1.2 44.1 38.2 -5.9 52.1 51.1 -1.6 65.8 59.5 -6.3 53.9 54.0 +0.1 49.3 45.8 -3.5 53.3 63.4 +10.1

81.1 78 -3.1 17.3 81 +3.7

3.8 3 -0.8 84.6 94 +9.4

6.6 9 -15.6

Abbreviations: ANS, anterior nasal spine; PNS, posterior nasal spine; A-point, subspinale; B-point, supramentale; SNA, sella-nasion-subspinale; SNB, sella-nasion-supramentale; ANB, subspinale- nasion-supramentale. (Data from Rio10 ML, Moyers RE, McNamara JA.=)

I

II

III

FIGURE 4. Pedigree of the patient’s kindred with Rieger syndrome.

Her family history showed that Rieger anomaly associated with glaucoma and blindness also had been diagnosed in several relatives. The pedigree of the kindred was con- structed and is shown in Figure 4.

In generations I, II, III, IV, six (1.1, 11.2, 111.1, 111.2, IV.l, IV.2) had been treated for glaucoma secondary to Rieger anomaly, and three (1.1, 11.2, 111.1) had become blind after the age of 40 years. Both the proband’s father and grand- mother had a broad nasal bridge, underdeveloped maxilla, congenital oligodontia, and orbital hypertelorism. Among the affected persons, one (111.2) had developed psychosis and another (IV.2) died at the age of 6 years of a large intestinal tumor. None of the examined members had involu- tion of the periumbilical skin, and all were of normal height and weight for their ages, indicating normal growth.

Chromosome analysis of cultured peripheral blood cells using the G banding technique showed no abnormalities. The patient’s karyotype was a normal 46, XX.

Because the patient had the typical features, a final diagnosis of Rieger syndrome was made, modifying the initial diagnosis of Rieger anomaly.

Discussion

Rieger syndrome is characterized by malformation of the anterior chamber of the eye and accom- panied by a spectrum of dental, craniofacial, and somatic anomalies, particularly umbilical dysmorphol-

WY. J-4~8~9~20 When only the eyes are affected, the condition has been termed the Rieger anomaly, Axenfeld anomaly, Rieger eye malformation, and iris hypoplasia. 1~2.4.7,12~16.21 The extraocular manifestations, espe- cially dental and craniofacial anomalies, serve to distinguish the Rieger syndrome from the above-men- tioned conditions and other disorders in which goniodysgenesis is a component.9,“,‘2 These extraocular

520 RIEGER SYNDROME: A CASE REPORT

findings may lead the affected person to seek corrective procedures for both the midface hypoplasia and the dental defects.

Because of the overlapping characteristics of the various malformations of the anterior chamber of the eye, it has been proposed that Rieger anomaly, Axen- feld anomaly, and Rieger syndrome represent a single condition to be designated Axenfeld-Rieger syndrome.6313 Recent genetic linkage analyses, however, have indicated that Rieger eye malformation and Axen- feld anomaly are genetically different from typical Rieger syndrome, with facial, tooth, and umbilical anomalies that differentiate the conditions.53’2,2’

Rieger syndrome is typically described as an autoso- ma1 dominant condition having almost complete pene- trance and variable expressivity.” This was confirmed in the current case by pedigree analysis of the patient’s family in which ocular defects and glaucoma, congenital oligodontia, and characteristic facies were constant features in members of four generations.

Genetic linkage analysis in Rieger syndrome has shown that the locus of the responsible gene is mapped to the 4q2.5 band.21-23 Interstitial deletion of the 4q chromosome, involving bands 4q25, 4q26, or 4q27, and reciprocal translocation between chromosomes 1 and 4 also have been reported in a few cases.7,23-25 In our patient, no chromosomal abnormalities were detected using G banding.

Significant linkage of Rieger syndrome to human chromosome 4q markers has also identified a tight con- nection to epidermal growth factor (EGF), supporting its role as a candidate gene.21,22326

Mutations associated with the EGF gene, which is mapped to band 4q25, or inhibition of its expression are implicated in malformations arising from abnormal development of the first branchial arch and its deriva- tives. 22.26-2g These data are consistent with the current theory of pathogenesis of Rieger syndrome, which is thought to originate as an ectodermal tissue defect caused by developmental disorders of neural crest tissue. 3,6~11~15,30 Differentiation and migration of neural crest cells are responsible for the formation of normal ocular and craniofacial structures, the pituitary gland, and the umbilical ring, and are important in the induc- tion of the enamel organ from the oral epithelium.3’“,15 Aberrations in neural crest development may explain the morphologic abnormalities of the maxillary and mandibular hypoplasia, hypertelorism, tooth abnormalities, empty-sella syndrome, and the failure of involu- tion of the periumbilical skin.3,6311,31

References

1. Duane T, Jaeger E: Clinical Ophthalmology, ~013. Philadelphia, PA, Harper and Row, 1986, p 2

2. Kanski J: Clinical Ophthalmology: A Systematic Approach. London, Butterworths, 1978, pp 226-227

3. Brooks JK, Coccaro PJ, Zarbin MA: The Rieger anomaly con- comitant with multiple dental, craniofacial, and somatic mid- line anomalies and short stature. Oral Surg Oral Med Oral Path01 68:717, 1989

4. Vaughan D, Asbury T: General Ophthalmology. Norwalk, CT, Lange Medical Publication, 1992, p 223

5. Fitch N, Kaback M: The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30, 1978

6. Shields MB, Buckley E, Klintworth GK, et al: Axenfeld-Rieger syndrome: A spectrum of developmental disorders. Surv Ophthalmol 29:387, 1985

7. Heon E, Sheth BP, Kalenak JW, et al: Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 4:1435, 1995

8. Kleinmann RE: Rieger’s anomaly and syndrome. N Engl J Med 304:1173, 1981

9. Cross HE, Jorgenson RJ, Levin LS, et al: The Rieger syndrome? An autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthalmol 3:3, 1979

10. Gorlin R, Pindborg J, Cohen M: Syndromes of the head and neck. New York, NY, McGraw-Hill, 1976, pp 649-651

11. Drum MA, Kaiser-Kupfer MI, Guckes AD, et al: Oral manifestations of the Rieger syndrome: Report of case. J Am Dent Assoc 110:343, 1985

12. Ginter M, Krawczynskin M: Rieger’s syndrome in a 12 years old girl. Klin Oczna 96:347, 1994

13. Childers NK, Wright JT: Dental and craniofacial anomalies of Axenfeld-Rieaer svndrome. J Oral Path01 15:534. 1986

14. Jorgensons RJ, LiviniS, Cross HE, et al: The Rieger’syndrome. Am J Med Genet 2:307, 1978

15. Langdon JD: Rieger’s syndrome. Oral Surg 30:788, 1970 16. Kleinmann RE, Kazarian EL, Raptopoulos V, et al: Primary

empty sella and Rieger’s anomaly of the anterior chamber of the eye. N Engl J Med 304:90, 1981

17. Gorlin R, Cervenka J, Moller K, et al: Rieger anomaly and growth retardation (the S-H-O-R-T syndrome). Birth Defects. Original Article Series 11:46, 1975

18. Sensebrenner JA, Hussels JE, Levin LS: A low birth weight syndrome: Rieger syndrome. Birth Defects: Original Article Series 11:423, 1975

19. Aarskog D, Ose L, Pande H, et al: Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature and insulinopenic diabetes. Am J Med Genet 15:29, 1983

20. Lang GE, Fleisher-Peters A: Rieger syndrome as an expression of neural crest dysgenesis. Fo&chr-Ophthalmol86:366, 1989

21. Legius E. de Die Smlders CE. Verbraak F. et al: Genetic hetero- geneity in Rieger eye malformation J Med Genet 31:340, 1994

22. Murray JC, Bennett SR, Kwitek AE, et al: Linkage of Rieger syndrome to the region of the epidermal growth faefor gene On chromosome 4. Nat Genet 2:46, 1992

23. Vaax C, Sheffield L, Keith CG, et al: Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 29:256, 1992

24. Ligutic J, Brecevic L, Petkovic I, et al: Interstitial deletion 4q and Rieger syndrome. Clin Genet 20:323, 1981

25. Makita Y, Masumo M, Imaizumi K, et al: Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1; q25). Am J Med Genet 57:19, 1995

26. Sbavkin HC: Rieger syndrome revisited: Experimental ap- proaches using pharmacologic and antisense strategies to ab- rogate EGF and TGF-alpha functions resulting in dysmorphogenesis during embryonic mouse craniofacial morphoaenesis. Am J Med G&et 4?:689, 1993

_ -

27. Ardinrer HH, Buetow KH. Bell GL. et al: Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 45:348, 1989

28. Sassani R, Barlett SP, Feng H, et al: Association between alleles of the transforming growth factor alpha locus and the occur- rence of cleftlip. Am J Med Genet 45:565, 1993

29. Shum L, Sakakura Y, Bringas P, et al: EGF abrogation-induced fusilli-form dysmorphogenesis of Mechel’s cartilage during embryonic mouse mandibular morphogenesis in vitro. Devel- opment 118:903, 1993

30. Edwards WC, Torczynski E: Neural crest cell behavior and facial anomalies. Perspect Opthalmol 5:47, 1981

ISENBERG, SMITH, AND TU 521

3 1. Shield MB: Axenfeld-Rieger syndrome: A theory of mechanism and distinction from the iridocorneal endothelial syndrome. Tram Am Opthalmol Sot 81:736, 1983

32. Rio10 ML; Moyers RE, McNamara JA, et al: An Atlas of Cranio-

facial Growth: Cephalometric Standards From the University School Growth Study. Ann Arbor, MI, University of Michi- gan, 1974 (Craniofacial growth series, Center for Human Growth and Development, monograph 2)

J Oral Maxillofac Surg 55:521-523, 1997

Necro tizing Fasciitis of the Periorbita and Forehead

JEFFREY SCOTT ISENBERG, MD, MPH,* KEVIN SMITH, DDS,t AND QUANG TU, MD*

Necrotizing fasciitis is a surgical emergency common to the perineum, abdominal wall, and extremities.’ Although described by the Civil War surgeon Jones in 1871,3 mortality remains from 20% to 50% despite advances in perioperative management and antibiot- ics.3 Involvement of the periorbita and scalp is particularly rare, with only a little over a dozen cases reported in the literature.4 We present a case of necrotizing fasciitis of the forehead and periorbita and review the literature.

Report of Case

The patient, a 52-year-old woman, presented with massive, rapidly progressive periorbital edema. The patient reported being in an altercation 72 hours before and sustaining a human bite to the forehead. Her medical history was re- markable for alcohol abuse. On evaluation, the patient was noted to have massive periorbital edema, bullae and blis- tering of the upper lids, midface and forehead edema and erythema, and a small puncture wound of the midforehead (Fig 1).

The patient’s temperature was lOO.l”F, and white blood cell count was 19.9 X 103/mm3 on admission to the hospital. Preoperative computed tomography showed subcutaneous gas in the soft tissues overlying the temporalis muscle bilat- erally (Fig 2).

The patient was taken immediately to the operating room

* Private Practice, Midwest Regional Medical Center, Midwest City, OK.

? Assistant Professor, Department of Oral and Maxillofacial Sur- gery, University of Oklahoma Health Science Center, Oklahoma City, OK.

$ Chief Resident, Section of Plastic Surgery, University of OkIa- homa Health Science Center, Oklahoma City OK.

Address correspondence and reprint requests to Dr Isenberg: 2801 Park Lawn Dr, Suite 203, Midwest City, OK 73110.

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0278-2391/97/5505-0018$3.00/O

where, through a coronal incision, wide debridement of the galea, frontalis muscle, and temporalis fascia was performed (Fig 3). The soft tissue, which was easily undermined, ap- pearing diffusely edematous and ischemic, with visibly thrombosed arteries and veins. The right upper eyelid was debrided through a standard blepharoplasty incision. The coronal incision was then closed loosely with several inter- rupted nylon sutures over large Penrose drains. Intraopera- tive cultures isolated Staphylococcus aureus and beta-hemo- lytic Streptococcus ssp. sensitive to oxacillin and Unasyn (Roerig, NY). The patient received postoperative intrave- nous oxacillin 500 mg and Unasyn 1.5 mg intravenously every 6 hours. All incisions healed well, and the patient was discharged on the seventh postoperative day on oral oxacillin 500 mg by mouth every 6 hours for 3 weeks and bacitracin ointment to the right upper eyelid (Fig 4).

Discussion

Necrotizing infections are well known to general surgeons but occur uncommonly in the scalp, face, and neck. Although clinical reports of necrotizing fasciitis appeared in the literature at the turn of the century, Meleney5 in 1924 was one of the first to characterize the extensive subcutaneous tissue loss and to isolate Streptococcus species in many cases.

Reports of these polymicrobial soft tissue infections in the head and neck region did not appear until the 1960~.~ Fourteen cases of necrotizing fasciitis of the face or scalp have appeared in the literature.7-17 Com- mon to all cases has been extensive soft tissue involvement. The most commonly isolated bacteria are Staph- ylococcus aureus, Streptococcus, and anaerobes. The average age of the patients is 59 years (range, 23 to 93 years). Distribution is equal among men and women. More than half of the cases (60%) have a risk factor such as alcohol abuse, diabetes mellitus, atherosclerosis, or a connective tissue disease. All had an antecedent traumatic event. When the necrotic pro-

rieger syndrome: a case report

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