Basal cell carcinoma syndrome: report of 10 cases D.-X. Sun, Q. Yu, P.-Z. Wang and G.·Q. Qian* Department of Radiology and 'Department of Pathology, School of Stomatology, Shanghai Second Medical University, Shanghai, China
Received 19 September 1989 and in final form 25 January 1990 Ten cases of basal cell carcinoma syndrome are presented. The jaw cysts were proved histopathologically to be odontogenic keratocysts. The multiple naevoid lesions on the skin were identified as basal cell carcinoma in two cases. Skeletal anomalies and intracranial calcification were present in all cases. A positive family history with others affected by the syndrome was traced in two cases. Keywords: Carcinoma, basal cell; basal cell naevus syndrome; Gar/in's syndrome; odontogenic cysts
The basal cell naevus or basal cell carcinoma syndrome is a relatively uncommon entity and only one case has been reported in China I. The syndrome was first described by Jarisch" in 1894 and Gorlin and Goltz? reported a case in 1960with multiple jaw cysts, multiple basal cell carcinoma on the neck and face and rib bifurcation. Subsequent reports during the past two decades4-13 have included other abnormal findings: intracranial calcification, such as calcification of the falx cerebri and bridging of the sella turcica; ocular defects, such as congenital cataract, ptosis, amblyopia and exotropia; skeletal anomalies, such as synosteosis of the rib, spina bifida occulta, scoliosis and polydactylia and cleft palate; and other anomalies, such as palmar and plantar pits, sebaceous cysts, hypertelorism, frontal bossing, a broad nasal root and a large or broad skull. The cause of the syndrome is not known. Many authors believe that the syndrome may be characterized by autosomal dominant inheritance. The aim of this report is to present 10 cases treated in Shanghai from 1980 to 1988.
Materials and methods Ten patients with basal cell naevus syndrome were examined clinically. Radiographic examination included panoramic radiography, Water's projection where maxillary cysts were present and posteroanterior and oblique-lateral projections for mandibular cysts. In every case, chest radiographs and both posteroanterior and lateral projections of the skull were taken. Specific views of the ribs, spine and sella turcica were obtained when necessary. The jaw cysts of these 10 patients were examined histopathologically, using the following criteria for an odontogenic keratocyst: the cysts are lined by thin, uniform stratified squamous epithelium, which exhibits a corrugated layer of parakeratin and little or no evidence of rete peg formation. The basal layer is well defined and is composed of palisaded cuboidal or columnar cells with evidence of bud-like proliferation
© 1990 Butterworth-Heinemann for 0250-832x 9O/040181-D4
or microcysts in the fibrous connective tissue wall of the cyst.
Results The clinical and radiographic findings are summarized in Table I.
Clinical findings There were six male and four female patients ranging in age from 10 to 50 years. The major clinical feature was the presence of jaw cysts. Ten maxillary and 12 mandibular cysts were removed and were identified as odontogenic keratocysts on histopathological examination. Fifty per cent of the cases had a recurrence of the jaw cysts, in one case a total of seven times. Three patients had skin lesions, in two cases basal cell carcinoma and in one a sebaceous cyst. The typical basal cell carcinoma had numerous small, pigmented nodular naevi, which were ulcerated and infiltrating with indistinct margins (Figure 1). The minor clinical features seen comprised: broad nasal root and ptosis (one case each) and scoliokyphosis (one case).
Radiographic findings (1) Jaw cysts: all patients had jaw cysts and in six cases these were multiple. There were relatively more in the mandible than the maxilla and both unilocular and multilocular cysts were found, sometimes associated with more than a single tooth. (2) Skeletal anomalies included bifurcation of one or more ribs in seven cases (Figure 2) and other rib deformities, such as synostosis, partial agenesis and/or supernumerary in six others; scoliosis was found in four cases, spina bifida occulta in two and scoliokyphosis in one. (3) Intracranial calcification: calcification of the falx cerebri was seen in nine cases (Figure 3), in the
IADMFR
Dentomaxillofac. Radiol., 1990, Vol. 19, November
181
Basal cell carcinoma syndrome: D.-X. Sun et al. Table I Summary of case repo rts Radiographic findings Family history of syndrome
Bifid rib
Other rib deform ities
No
R4, 5
L5
No
None
R2, 3
No
No
R3
L1-5
3x
No
No
R3
None
Ix
No
1 son 1 daught er No No
None
R3-5
None R4, L7
R3, L3 L3,4
Jaw cysts Age (yr)
Sex
Site
Recurrence
Basal cell carcinoma on skin
40
M
RL
None
2
10
M
None
3
16
M
5x
4
24
F
5
50
M
LU LL LU LL RU RL LU LL RU RL LU
Around the eyes, nose, mouth and ear No
Case
6
30
7
37
F M
8
38
9 10
None Ix
No No
F
LL LU RU RL LU
7x
Eyelids, back, abdomen, hip, knee, leg, (sebaceo us cyst)
31
M
LL
None
22
F
LL
None
Rt. chee k, zygoma , temple , chest , back No
Father I brot her I sister 1 son No
R4
None
R4
None
No
R4. 5
None
Site of jaw cysts: LV, left upper ; LL, left lower ; RU , right upper; RL , right lower.
Figure I Photograph of Case 1, showing numerous naevo id nodule s
around the eyes, nose and mouth
/
sella turcica in eight , and in the petroclinoid ligament and the choroid plexus in one each . (4) Other abnormal findings included a large , broad skull in one case , and a right aort ic arch in another.
Histopathological findings The skin lesions in the two cases were shown to be those of basal cell carcinoma histologically: the basal cells of the epidermis were tumour like with active proliferation and numerous mitoti c figures invading the underlying connective tissue in columns or plexuses . The jaw cysts in this series all proved to be odontogenic keratocysts histologically. 182
Dentomaxillofac. Radio l., 1990, Vol. 19, November
Figure 2 Posteroanterior view of the chest of Case 4, showing bifid third rib (arro ws)
Basal cell carcinoma syndrome: D.-X. Sun et at.
Spinal deformities
Calcification of the falx
Bridging of sella turcica
Scoliokyphosis
Yes
Yes
Spina bifida
Yes
Yes
Ca lcificatio n of petrocl inoid ligament No
Scoliosis
No
Yes
Large skull
Hypert elorism , bro ad nasal root Hypert elori sm, ptosis
Spina bifida
Yes
Yes
Ce rvical rib
No
Scoliosis No
Yes Yes
No Yes
No No
No No
Scoliosis
Yes
Yes
No
No
No
Yes
Yes
No
No
No
Yes
No
No
No
Scoliosis
Yes
Yes
Right aortic arch, calcification of choroi d plexus
Other findings
Other clinical anomalies No
Discussion
Diagnostic criteria Most authors describe the basal cell naevu s syndrome as characterized primarily by jaw cysts with multiple basal cell carcinoma of the skin, ectopic calcification, skeletal anomalies, and other miscellaneous conditions . However, some previously reported cases do not fulfil all these criteria. The patient reported by Towns et al. 4 had no basal cell carcinoma on her skin; Meerkotter and Shear" reported a 19-year-old white female with no ectopic calcification. Totten? pointed out that it is often not possible to meet all reported diagnostic criteria, particularly in children who are still too young to manifest lesions of the skin and calcification of the falx cerebri. We agree with this point of view and suggest that the syndrome may be diagnosed if three out of the four major criteria (jaw cysts, multiple basal cell carcinoma of the skin , ectopic calcification and skeletal anomalies) are present.
Family trends
Figure 3 Posteroanterior view of the skull of Case 5, showing the thick lamellar calcificat ion fo the falx (arrow)
Since this syndrome may occur in the patient's parents, siblings, children and close relatives, it has been suggested to be a disorder of inheritance. Anderson et al.' described seven families with a total of 43 members affected by the syndrome . Anderson and Cook 8 reported a family with nine cases and Stoelinga et al:? presented another family with three all exhibiting this syndrome . These studies clearly demonstrated that the condition may be inherited as an autosomal dominant. Nevertheless, Kopp et al. 10, Ellis et al. 11 and Chen I reported cases without any evidence of a genetic disposition . In our series, three members of one family Dent omaxillofac. Radiol. , 1990, Vol. 19, November
183
Basal cell carcinoma syndrome: D.-X. Sun et al. and five of a second were diagnosed as having the syndrome. Transmission in these families was independent of sex, substantiating an autosomal dominant pattern of inheritance. Those other sporadic cases with no family history may be due to either gene mutation or incomplete genetic penetration.
Radiological characteristics The syndrome is not infrequently discovered on radiographic examination of the skull, jaws, ribs or spine. Multiple cysts are usually present in the mandible and maxilla. In two cases, cysts were found in all four quadrants. One patient in this study presented with two bifid ribs on the same side and in two more there was one bifid rib on both sides. Calcification of the falx cerebri is dense and lamellar in appearance and can easily be distinguished from the calcified dural plaques seen as a normal finding in about 7% of patients. The bridging of the sella turcica between the anterior and posterior clinoid processes also has a distinctly different appearance from the calcified interclinoid ligament normally present in about 4% of the population. Calcification of the whole sella turcica area may be so heavy that it seems to be 'occluded'. The symptomless right aortic arch found on the chest film of a 22-year-old female (Case 10) is a previously unreported feature of this syndrome.
2. Jarisch W. Zur lehre von der hautgeschwulsten. Areh Dermatol Syphi/1894; 28: 163-222. 3. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma; jaw cysts and bifid rib. New Engl J Med 1960; 262: 908-12. 4. Towns TM, Campell F, Lagattuta V. Basal cell nevus syndrome. J Oral Surg 1974; 32: 50-3. 5. Meekotter VA, Shear M. Multiple primodial cysts associated with bifid rib and ocular defects. Oral Surg Oral Med Oral Pathol 1964; 18: 496-503. 6. Totten JR. Multiple basal cell nevi syndrome. Br J Oral Surg 1979; 17: 147-56. 7. Anderson DE, McClendon JL, Howell JB. Genetics and skin tumor with special reference to basal cell nevi in Anderson Hospital and Tumor Institute. In: Tumor of the skin. Chicago: Year Book Medicine 1964; 92-127. 8. Anderson DE, Cook WA. Jaw cysts and basal cell nevus syndrome. J Oral Surg 1966; 24: 15-26. 9. Stoelinga PJW, Peters JH, Staak WJB, Cohen Jr M. Some new findings in the basal cell nevus syndrome. Oral Surg Oral Med Oral Pathol 1973; 36: 686-92. 10. Kopp WK, Klatell J, Blade M. Basal cell nevus syndrome with other abnormalities. Oral Surg Oral Med Oral Patho11969; 27: 9-14. 11. Ellis DJ, Akin RK, Berhard R. Nevoid basal cell carcinoma syndrome. J Oral Surg 1972; 30: 851-6. 12. Dijk Evan, Neering H. The association of cleft lip and palate with basal cell nevus syndrome. Oral Surg Oral Med Oral Pathol 1980; 50: 214-6. 13. Ruprecht A, Austermann K-H, Umstadt H. Cleft lip and palate. seldom seen features of the Gorlin-Goltz syndrome. Dentomaxillofac Radio11987; 16: 99-104.
References 1. Chen GD. Basal cell nevus syndrome (report of one case). J West China Univ Med Sci 1988; 6: 71-2.
184
Dentomaxillofac. Radiol., 1990, Vol. 19, November
Address: Dr Sun Da-Xi, Department of Radiology, Ninth People Hospital, School of Stomatology, Shanghai Second Medical University, 639 Zhi-Zhao Ju Road, Shanghai, China.
Received 19 September 1989 and in final form 25 January 1990 Ten cases of basal cell carcinoma syndrome are presented. The jaw cysts were proved histopathologically to be odontogenic keratocysts. The multiple naevoid lesions on the skin were identified as basal cell carcinoma in two cases. Skeletal anomalies and intracranial calcification were present in all cases. A positive family history with others affected by the syndrome was traced in two cases. Keywords: Carcinoma, basal cell; basal cell naevus syndrome; Gar/in's syndrome; odontogenic cysts
The basal cell naevus or basal cell carcinoma syndrome is a relatively uncommon entity and only one case has been reported in China I. The syndrome was first described by Jarisch" in 1894 and Gorlin and Goltz? reported a case in 1960with multiple jaw cysts, multiple basal cell carcinoma on the neck and face and rib bifurcation. Subsequent reports during the past two decades4-13 have included other abnormal findings: intracranial calcification, such as calcification of the falx cerebri and bridging of the sella turcica; ocular defects, such as congenital cataract, ptosis, amblyopia and exotropia; skeletal anomalies, such as synosteosis of the rib, spina bifida occulta, scoliosis and polydactylia and cleft palate; and other anomalies, such as palmar and plantar pits, sebaceous cysts, hypertelorism, frontal bossing, a broad nasal root and a large or broad skull. The cause of the syndrome is not known. Many authors believe that the syndrome may be characterized by autosomal dominant inheritance. The aim of this report is to present 10 cases treated in Shanghai from 1980 to 1988.
Materials and methods Ten patients with basal cell naevus syndrome were examined clinically. Radiographic examination included panoramic radiography, Water's projection where maxillary cysts were present and posteroanterior and oblique-lateral projections for mandibular cysts. In every case, chest radiographs and both posteroanterior and lateral projections of the skull were taken. Specific views of the ribs, spine and sella turcica were obtained when necessary. The jaw cysts of these 10 patients were examined histopathologically, using the following criteria for an odontogenic keratocyst: the cysts are lined by thin, uniform stratified squamous epithelium, which exhibits a corrugated layer of parakeratin and little or no evidence of rete peg formation. The basal layer is well defined and is composed of palisaded cuboidal or columnar cells with evidence of bud-like proliferation
© 1990 Butterworth-Heinemann for 0250-832x 9O/040181-D4
or microcysts in the fibrous connective tissue wall of the cyst.
Results The clinical and radiographic findings are summarized in Table I.
Clinical findings There were six male and four female patients ranging in age from 10 to 50 years. The major clinical feature was the presence of jaw cysts. Ten maxillary and 12 mandibular cysts were removed and were identified as odontogenic keratocysts on histopathological examination. Fifty per cent of the cases had a recurrence of the jaw cysts, in one case a total of seven times. Three patients had skin lesions, in two cases basal cell carcinoma and in one a sebaceous cyst. The typical basal cell carcinoma had numerous small, pigmented nodular naevi, which were ulcerated and infiltrating with indistinct margins (Figure 1). The minor clinical features seen comprised: broad nasal root and ptosis (one case each) and scoliokyphosis (one case).
Radiographic findings (1) Jaw cysts: all patients had jaw cysts and in six cases these were multiple. There were relatively more in the mandible than the maxilla and both unilocular and multilocular cysts were found, sometimes associated with more than a single tooth. (2) Skeletal anomalies included bifurcation of one or more ribs in seven cases (Figure 2) and other rib deformities, such as synostosis, partial agenesis and/or supernumerary in six others; scoliosis was found in four cases, spina bifida occulta in two and scoliokyphosis in one. (3) Intracranial calcification: calcification of the falx cerebri was seen in nine cases (Figure 3), in the
IADMFR
Dentomaxillofac. Radiol., 1990, Vol. 19, November
181
Basal cell carcinoma syndrome: D.-X. Sun et al. Table I Summary of case repo rts Radiographic findings Family history of syndrome
Bifid rib
Other rib deform ities
No
R4, 5
L5
No
None
R2, 3
No
No
R3
L1-5
3x
No
No
R3
None
Ix
No
1 son 1 daught er No No
None
R3-5
None R4, L7
R3, L3 L3,4
Jaw cysts Age (yr)
Sex
Site
Recurrence
Basal cell carcinoma on skin
40
M
RL
None
2
10
M
None
3
16
M
5x
4
24
F
5
50
M
LU LL LU LL RU RL LU LL RU RL LU
Around the eyes, nose, mouth and ear No
Case
6
30
7
37
F M
8
38
9 10
None Ix
No No
F
LL LU RU RL LU
7x
Eyelids, back, abdomen, hip, knee, leg, (sebaceo us cyst)
31
M
LL
None
22
F
LL
None
Rt. chee k, zygoma , temple , chest , back No
Father I brot her I sister 1 son No
R4
None
R4
None
No
R4. 5
None
Site of jaw cysts: LV, left upper ; LL, left lower ; RU , right upper; RL , right lower.
Figure I Photograph of Case 1, showing numerous naevo id nodule s
around the eyes, nose and mouth
/
sella turcica in eight , and in the petroclinoid ligament and the choroid plexus in one each . (4) Other abnormal findings included a large , broad skull in one case , and a right aort ic arch in another.
Histopathological findings The skin lesions in the two cases were shown to be those of basal cell carcinoma histologically: the basal cells of the epidermis were tumour like with active proliferation and numerous mitoti c figures invading the underlying connective tissue in columns or plexuses . The jaw cysts in this series all proved to be odontogenic keratocysts histologically. 182
Dentomaxillofac. Radio l., 1990, Vol. 19, November
Figure 2 Posteroanterior view of the chest of Case 4, showing bifid third rib (arro ws)
Basal cell carcinoma syndrome: D.-X. Sun et at.
Spinal deformities
Calcification of the falx
Bridging of sella turcica
Scoliokyphosis
Yes
Yes
Spina bifida
Yes
Yes
Ca lcificatio n of petrocl inoid ligament No
Scoliosis
No
Yes
Large skull
Hypert elorism , bro ad nasal root Hypert elori sm, ptosis
Spina bifida
Yes
Yes
Ce rvical rib
No
Scoliosis No
Yes Yes
No Yes
No No
No No
Scoliosis
Yes
Yes
No
No
No
Yes
Yes
No
No
No
Yes
No
No
No
Scoliosis
Yes
Yes
Right aortic arch, calcification of choroi d plexus
Other findings
Other clinical anomalies No
Discussion
Diagnostic criteria Most authors describe the basal cell naevu s syndrome as characterized primarily by jaw cysts with multiple basal cell carcinoma of the skin, ectopic calcification, skeletal anomalies, and other miscellaneous conditions . However, some previously reported cases do not fulfil all these criteria. The patient reported by Towns et al. 4 had no basal cell carcinoma on her skin; Meerkotter and Shear" reported a 19-year-old white female with no ectopic calcification. Totten? pointed out that it is often not possible to meet all reported diagnostic criteria, particularly in children who are still too young to manifest lesions of the skin and calcification of the falx cerebri. We agree with this point of view and suggest that the syndrome may be diagnosed if three out of the four major criteria (jaw cysts, multiple basal cell carcinoma of the skin , ectopic calcification and skeletal anomalies) are present.
Family trends
Figure 3 Posteroanterior view of the skull of Case 5, showing the thick lamellar calcificat ion fo the falx (arrow)
Since this syndrome may occur in the patient's parents, siblings, children and close relatives, it has been suggested to be a disorder of inheritance. Anderson et al.' described seven families with a total of 43 members affected by the syndrome . Anderson and Cook 8 reported a family with nine cases and Stoelinga et al:? presented another family with three all exhibiting this syndrome . These studies clearly demonstrated that the condition may be inherited as an autosomal dominant. Nevertheless, Kopp et al. 10, Ellis et al. 11 and Chen I reported cases without any evidence of a genetic disposition . In our series, three members of one family Dent omaxillofac. Radiol. , 1990, Vol. 19, November
183
Basal cell carcinoma syndrome: D.-X. Sun et al. and five of a second were diagnosed as having the syndrome. Transmission in these families was independent of sex, substantiating an autosomal dominant pattern of inheritance. Those other sporadic cases with no family history may be due to either gene mutation or incomplete genetic penetration.
Radiological characteristics The syndrome is not infrequently discovered on radiographic examination of the skull, jaws, ribs or spine. Multiple cysts are usually present in the mandible and maxilla. In two cases, cysts were found in all four quadrants. One patient in this study presented with two bifid ribs on the same side and in two more there was one bifid rib on both sides. Calcification of the falx cerebri is dense and lamellar in appearance and can easily be distinguished from the calcified dural plaques seen as a normal finding in about 7% of patients. The bridging of the sella turcica between the anterior and posterior clinoid processes also has a distinctly different appearance from the calcified interclinoid ligament normally present in about 4% of the population. Calcification of the whole sella turcica area may be so heavy that it seems to be 'occluded'. The symptomless right aortic arch found on the chest film of a 22-year-old female (Case 10) is a previously unreported feature of this syndrome.
2. Jarisch W. Zur lehre von der hautgeschwulsten. Areh Dermatol Syphi/1894; 28: 163-222. 3. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma; jaw cysts and bifid rib. New Engl J Med 1960; 262: 908-12. 4. Towns TM, Campell F, Lagattuta V. Basal cell nevus syndrome. J Oral Surg 1974; 32: 50-3. 5. Meekotter VA, Shear M. Multiple primodial cysts associated with bifid rib and ocular defects. Oral Surg Oral Med Oral Pathol 1964; 18: 496-503. 6. Totten JR. Multiple basal cell nevi syndrome. Br J Oral Surg 1979; 17: 147-56. 7. Anderson DE, McClendon JL, Howell JB. Genetics and skin tumor with special reference to basal cell nevi in Anderson Hospital and Tumor Institute. In: Tumor of the skin. Chicago: Year Book Medicine 1964; 92-127. 8. Anderson DE, Cook WA. Jaw cysts and basal cell nevus syndrome. J Oral Surg 1966; 24: 15-26. 9. Stoelinga PJW, Peters JH, Staak WJB, Cohen Jr M. Some new findings in the basal cell nevus syndrome. Oral Surg Oral Med Oral Pathol 1973; 36: 686-92. 10. Kopp WK, Klatell J, Blade M. Basal cell nevus syndrome with other abnormalities. Oral Surg Oral Med Oral Patho11969; 27: 9-14. 11. Ellis DJ, Akin RK, Berhard R. Nevoid basal cell carcinoma syndrome. J Oral Surg 1972; 30: 851-6. 12. Dijk Evan, Neering H. The association of cleft lip and palate with basal cell nevus syndrome. Oral Surg Oral Med Oral Pathol 1980; 50: 214-6. 13. Ruprecht A, Austermann K-H, Umstadt H. Cleft lip and palate. seldom seen features of the Gorlin-Goltz syndrome. Dentomaxillofac Radio11987; 16: 99-104.
References 1. Chen GD. Basal cell nevus syndrome (report of one case). J West China Univ Med Sci 1988; 6: 71-2.
184
Dentomaxillofac. Radiol., 1990, Vol. 19, November
Address: Dr Sun Da-Xi, Department of Radiology, Ninth People Hospital, School of Stomatology, Shanghai Second Medical University, 639 Zhi-Zhao Ju Road, Shanghai, China.
