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Gorlin's syndrome with a cardiac lesion and jaw cysts with some unusual histological features
Int. J. Oral Surg, 1984: 13: 59-64 (Key words: syndrome,basal cell reuus; cyst,jaw; keratocyst;surgery, orol)
Gorlin's syndrome with a cardiac lesion and jaw cysts with some unusual histological features A case report and review of the literature SHAFIQ A. HARRIS AND D. M. LARGE Department of Oral Surgery, University Dental Hospital, Manchester. England, and University Department of Medicine, Manchester Royal Infirmary, Oxford Road, Manchester, England, UK ABSTRACT - A 25-year-old malewith Godin's syndromeassociated with an intracardiac lesion, presented with jaw cysts requiring surgical treatment. One of the cysts contained unusual histological components including fibrous tissue, myxomatous stroma and abnormal epithelial hyperplasia. Metabolic investigation showed normal parathyroid function and normal tissue responsiveness to parathyroid hormone, despite several clinicaland radiological features suggestive of pseudo-hypoparathyroidism. The principal features of the syndrome are reviewed.
(Received 6 June, accepted 15 July 1983)
The basal cell naevus syndrome consists of basal cell naevi which may undergo malignant transformation into basal cell carcinomata, multiple cysts of the jaws, inconstant vertebral and rib anomalies, intracranial calcification, and a variety of other defects (Tables 1,2). The syndrome exhibits autosomal dominant inheritance and is probably present in about 0.5% of patients with basal cell carcinoma. The naevi appear earlier in life than the basal cell tumours, usually in childhood or early adult life. The commonest skeletal anomalies are found in the ribs and the spine. These
include bifid ribs, synostosis, partial agenesis and other deformities of the shape of the ribs. The vertebral column may show scoliosis and cervical or thoracic fusion with a deformed chest. The hands display shortening of the metacarpals and the distal phalanx of the thumb. The patient often presents a characteristic facies, with an increase in the distance between the inner canthi of the eyes (dystopia cantho rum) which gives the appearance of a broad nasal root, or true hypertelorism. Other crania-facial changes include frontal and temporal bossing, a mild degree of prognathism and a sunken appearance of
60
HARRIS AND LARGE
Table I Principal features A) Multiple naevoid basal cell carcinomas B) Multiple cysts of the jaws C) Vertebral and rib anomalies D) Intra cranial calcification Less constant features A) Other oral and facial anomalies B) C.N.S. anomalies C) Eye anomalies D) Endocrine anomalies E) Cardiac anomalies F) Palmar-plantar pits (in over 60% of cases) Other reported findings A) Lymphatic cysts of the mesentery of the small intestine B) Congenital rhabdomyosarcoma of the anterior chest wall C) Isolated neurofibromas D) Multiple Leiomyomas
the eyes. Calcification of the falx cerebri and bridging of the sella turcica may occur in this syndrome. Pseudohypoparathyroidism (tissue resistance to circulating Parathyroid hormone) has been described in association with Gorlin's syndrome in some families.
Case report A 25-year-old man was referred by his general medical practitioner for the management of a symptomless right facial swelling, present for 2 months and increasing in size during the 2 weeks prior to consultation. His mother's sister had had dental cysts but neither she nor other members of his family could be investigated. Cardiomegaly was detected at birth and subsequent investigations including cardiac catheterization, had revealed a lesion in the left ventricle. He attended for regular cardiological
Table 2. Oral and facial anomalies I. Multiple cysts of the jaws in 65-75% of patients 2. Frontal and temporo-parietal bossing (Pagetoid appearance) 3. Increased cranial circumference 4. Dystopia can thorum or true hypertclorism in about 40% of patients 5. Mild mandibular prognathism 6. Cleft of the lip and/or palate 7. High arched palate 8. Fibroma of the palate or maxillary antrum C.N.S. anomalies I. Calcification of the falx cerebri, found in nearly all patients 2. Bridging of the sella turcica in 60--80% of patients 3. Congenital communicating hydrocephalus 4. Cysts of the choroid plexus of the 3rd and lateral ven trides 5. Medulloblastoma 6. Meningioma 7. Anosmia has been described in one family Eye anomalies I. Congenital blindness due to corneal opacity, cataract, glaucoma, coloboma of the choroid and optic nerve 2. Convergent or divergent strabismus
Endocrine anomalies I. Ovarian fibromas and/or cysts with ovarian or uterine calcification 2. Hypogonadism, cryptorchidism, unilateral anorchia, female pubic hair distribution III males 3. Gynaecomastia and/or scanty facial hair 4. Ovarian fibroscarcorna Cardiac anomalies 1. Fibroma of the left ventricle (neonatal) Skeletal anomalies I. Splayed and/or bifurcated rib 2. Synostosis, partial agenesis, pseudoarthrosis, and rudimentary cervical ribs 3. Kyphoscoliosis 4. Cervical and/or upper thoracic vertebral fusion or lack of segmentation 5. Bridging of the vertebral sulcus of the atlas 6. Spina bifida occulta 7. Sprengel deformity and medial hooking or dysplasia of the scapula 8. Pectus excavatum and carinatum 9. Shortened metacarpals 10. Other anomalies include: polydactyly, arachnodactyly, hallux valgus, minor cortical defects oflong bones and bilateral syndactyly of the second and third fingers
GORUN'S SYNDROME
61
Fig. 1. (A) Full face view showing a marked (R) facial swelling, bilateral proptosis, and mild
hypertelorism. (B) Lateral profile showing the right sided facial swelling.
F ig. 2. OPG, showing cystic lesions in (R) mandibular angle, cyst distal to -7, large cyst (R) maxilla 8 + to 3 +, cyst (L) maxilla + 1 to + 6, cyst distal to + 7 with radiopaque lesion superio r to it.
62
HARRIS AND LARGE
assessment but had no symptoms from the lesion. Examination revealed a well-developed man with hypertelorism, bilateral proptosis. small orbits and bilateral frontal prominence. The ears were low set and the nape of the neck rather wide (Fig. 1). There was a marked thoracic kyphoscoliosis. A violaceous patch was noted over the right arm which had been present since birth, but no basal cell naevi were seen. The nipples were widely spaced and hypoplastic and the anterior ribs flattened. The legs showed mild genuvarum. He had rockerbottom feet and pes planus. There was a mild mandibular prognathism with a high arched palate. The swelling on the right side of his face was tender and intra-orally, a fluctuant swelling extended from the right upper canine to the right upper second molar tooth. There were no clinical abnormalities of the cardiovascular or neurological systems. Radiographs of the jaws revealed multiple cystic lesions (Fig . 2). These comprised a large cyst in the right mandible extending from the distal aspect of the second molar into the ramus enclosing an unerupted third molar, and a small cyst in the left mandible distal and lingual to the second molar. In the right maxilla, a large cyst extended from the upper canine to the tuberosity including an unerupted third molar, and 2 large cystic areas were present in the left maxilla one extending from the left upper central incisor to the upper first molar and the second extending from the distal aspect of the second molar into the tuberosity with a solid area within it and an associated unerupted third molar (Fig. 3). Radiographs of the cervical and dorsal spine showed upper thoracic scoliosis concave to the left, Schmorl's nodes
a .M. view showing extent of the solid (radiopaque) lesion in the (L) maxilla.
Fig. 3.
and spina bifida occulta of C7. Skull radiographs showed calcification of the falx cerebri with bridging of the sella turcica and calcification of the inter-petrous ligaments. Radiographs of the feet showed abnormal angulation between the cuboid and the first metatarsal; the cubo id, first metatarsal and talocalcaneal joints also appeared abnormal. The metacarpals were short, hence the clinical appearances. Echocardiography and vector scan confirmed the presence of a solid lesion in the cavity of the left ventricle, attached to the left ventricular wall. Echo densities and colour coding of the lesion showed areas of calcification, but the remaining tissue was not fibrous, cystic or myocardial. Since the patient had no cardiac symptoms and the lesion was not increasing in size, there was no indication to proceed to endocardial biopsy. The precise histology therefore, remains obscure . Metabolic investigations were carried out to determine whether tissue resistance to parathyroid hormone (PTH) was present (pseudo hypoparathyroidism). The results were as follows: fasting serum calcium 2.33 mmolfl (normal 2.152.65 mmol/l); phosphate 1.22 mrnol/l (normal 0.7-1.4 mmol/l); serum creatinine 84 /lmolfl (normal up to 135 /lmolfl); alkaline phosphatase 82 iufl (normal up to 100 iu/l) ; PTH 0.5, 0.6 ng/rnl (normal 0.1-0.8 ng/ml); 24 h urine calcium 4.79 mmol (normal). Index of calcium excretion (CAE) 0.039, 0.034 mmol/l of glomerular filtrate (gf) (normal). Maximum renal tubular reabsorption capacity for phosphate (TMP/GFR) 1.26 mmol/l of g.f, (normal 1.0--1.68 mmolfl) of g.f.) Nephrogenic cAMP levels 18.6 nmol/l of g.f. (normal range 2.3-24 nmol/l of g.f.), These results
GORLIN'S SYNDROME
.'
f,'
:
,r ....
",
'i:'. -
.......
l.,,~
...
Fig. 5. Photomicrograph of lesion in (L) maxilla showing cellular fibrous tissue and the myxomatous stroma.
show normal parathyroid function and normal renal responsiveness to physiological levels of circulating PTH. A PTH infusion was not performed because of the slight risk ofa hypersensitivity reaction in a patient with a cardiac lesion. Had this been possible, we believe the results would have been consistent with the above findings which show no evidence of pseudohypoparathyroidism. Under endotracheal anaesthesia, the cystic lesions in the mandible were enucleated and primary closure was effected. Those in the maxilla were enucleated and the cavities packed. Histological examination showed all the cysts to be odontogenic keratocysts (Fig. 4), except for the solid soft tissue lesion in the tuberosi ty area of the left maxilla. The histology of this was unusual, comprising cellular fibrous tissue and abundant myxomatous stroma (Fig. 5). Clustered islands of epithelium with focal areas of unusual epithelial hyperplasia were also present.
Discussion The multiple basal cell naevus syndrome was probably first reported by JARISCH 7 , although the features in his patients were mainly confined to the visible cutaneous lesions. STRAITH 1 1 first described the association of basal cell carcinomata and multiple cysts of the jaws, and demonstrated the hereditary tendency. BINKLEY & JOHNSON! described a woman with basal cell naevi, dental cysts, agenesis of the corpus cal-
63
losum, a bifid rib and a fibroma of the ovary. These authors were the first to note an associated skeletal anomaly. The syndrome has been a well-recognized entity since the classic description by GORLIN & GOLTZ 3 . Metabolic investigations have been carried out by several workers. BLOCK & CLENDENNING 2 , noted a reduced phosphaturic response after intravenous administration of parathyoid hormone (PTH) in 2 patients, and suggested that this syndrome may represent a variant of pseudohypoparathyroidism, particularly as some of the clinical features are common to both. Abnormal aspects of calcium and phosphorous metabolism were documented by GORLIN et al:", and their findings were substantiated by GORLIN et a/.4 • However, KAUFMAN & CHASEs, studied 2 affected families and found no evidence of hyporesponsiveness to PTH, and the study of STOELINGA et aL1 0 was inconclusive in this respect. Biochemical investigations of parathyroid function in our own patient showed no abnormalities. A very unusual finding however, was the presence of an intra-cardiac lesion, and we have found only one previous report of a cardiac lesion in patients with this syndrome. LITTLER 9 reported 3 cases of Gorlin's syndrome one of whom developed a neonatal left ventricular fibroma which was successfully excised.
Conclusions This patient has many of the features of the basal cell naevus syndrome, apart from the cutaneous lesions. He also has an intracardiac lesion which has been present since birth and which has not been previously reported in association with this syndrome. Since the anomalies which Godin's syndrome encompasses are so diverse, it is
64
HARRIS AND LARGE
possible that cardiac involvement may be more common than hitherto suspected. This is particularly so as many reports were published before reliable, non-invasive methods of cardiac investigation were available. We suggest that echocardiography be carried out in patients with Gorlin's syndrome to confirm or refute this suggestion. Although the histology of the cardiac lesion remains unknown, it is interesting to speculate that it may resemble the unusual fibrous tissue with myxomatous stroma found within the cystic lesion in the left maxilla. Acknowledgement - The authors are grateful to Mr. A. A. Quayle, Senior Lecturer and Consultant in Oral Surgery for his guidance, advice and for allowing us to report his patient.
References 1. BINKLEY, G. W. & JOHNSON, H. H.: Epithelioma adenoides cysticum: basal cell nevi, agenesis of corpus callosum and dental cysts. Arch Dermatol. Syph. 1951: 63: 73-84. 2. BLOCK, J. B. & CLENDENNING, W. E.: Parathyroid hyporesponsiveness in patients with basal cell naevi and bone defects. New England Journal of Medicine 1963: 268: 1157Il62. 3. GORLIN, R. J. & GOLTZ, R. W.: Multiple naevoid basal cell epithelioma, jaw cysts and bifid rib. A syndrome. New England Journal of Medicine 1960: 262: 908-912. 4. GORLIN, R. J., VICKERS, R. E., KELLIN et al.: The multiple basal cell naevi syndrome. An
analysis of a syndrome consisting of multiple naevoid basal cell carcinoma jaw cysts, skeletal anomalies, medulloblastoma and hyporesponsiveness to parathormone. Cancer 1965: 18: 89-104. 5. GORLlN, R. J., YUNIS, J. J. & TUNA, N.: Multiple naevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. Acta Dermato-oenereologica 1963: 43: 39-55. 6. GORLlN, R. 1., PINDBORG, J. 1. & COHEN, M. A.: Syndromes of the head and neck, 2nd edition. McGraw-Hill Book Company, NY, USA 1976, pp. 520-525. 7. JARtsCH, A.: Zur Lehre von den Hautgeschwulsten. Archiv fur Derrnatologie und Syphilis 1894: 28: 163-222. 8. KAUFMAN, R. L. & CHASE, L. R.: Basal cell nevus syndrome, normal responsiveness to parathyroid hormone. Birth defects. Original Article Series 1971: 7: 149-155. 9. LITTLER, B.D.: Gorlin's syndrome and the heart. Br. J. Oral Surg. 1979: 17: 135-146. 10. STOELINGA, P. J. W., PETERS, J. H., VANDE STAAK, W. J. B., et al.: Some new findings in the basal cell nevus syndrome. Oral Surgery, Oral Medicine, Oral Pathology 1973: 36: 686692. 11. STRAITH, F. E,: Hereditary epidermoid cysts of the jaws. American Journal of Orthodontics and Oral Surgery 1939: 25: 673-691.
Address:
Shafiq A. Harris Department of Oral Surgery University Dental Hospital Bridgeford Street Manchester MI3 England
Gorlin's syndrome with a cardiac lesion and jaw cysts with some unusual histological features A case report and review of the literature SHAFIQ A. HARRIS AND D. M. LARGE Department of Oral Surgery, University Dental Hospital, Manchester. England, and University Department of Medicine, Manchester Royal Infirmary, Oxford Road, Manchester, England, UK ABSTRACT - A 25-year-old malewith Godin's syndromeassociated with an intracardiac lesion, presented with jaw cysts requiring surgical treatment. One of the cysts contained unusual histological components including fibrous tissue, myxomatous stroma and abnormal epithelial hyperplasia. Metabolic investigation showed normal parathyroid function and normal tissue responsiveness to parathyroid hormone, despite several clinicaland radiological features suggestive of pseudo-hypoparathyroidism. The principal features of the syndrome are reviewed.
(Received 6 June, accepted 15 July 1983)
The basal cell naevus syndrome consists of basal cell naevi which may undergo malignant transformation into basal cell carcinomata, multiple cysts of the jaws, inconstant vertebral and rib anomalies, intracranial calcification, and a variety of other defects (Tables 1,2). The syndrome exhibits autosomal dominant inheritance and is probably present in about 0.5% of patients with basal cell carcinoma. The naevi appear earlier in life than the basal cell tumours, usually in childhood or early adult life. The commonest skeletal anomalies are found in the ribs and the spine. These
include bifid ribs, synostosis, partial agenesis and other deformities of the shape of the ribs. The vertebral column may show scoliosis and cervical or thoracic fusion with a deformed chest. The hands display shortening of the metacarpals and the distal phalanx of the thumb. The patient often presents a characteristic facies, with an increase in the distance between the inner canthi of the eyes (dystopia cantho rum) which gives the appearance of a broad nasal root, or true hypertelorism. Other crania-facial changes include frontal and temporal bossing, a mild degree of prognathism and a sunken appearance of
60
HARRIS AND LARGE
Table I Principal features A) Multiple naevoid basal cell carcinomas B) Multiple cysts of the jaws C) Vertebral and rib anomalies D) Intra cranial calcification Less constant features A) Other oral and facial anomalies B) C.N.S. anomalies C) Eye anomalies D) Endocrine anomalies E) Cardiac anomalies F) Palmar-plantar pits (in over 60% of cases) Other reported findings A) Lymphatic cysts of the mesentery of the small intestine B) Congenital rhabdomyosarcoma of the anterior chest wall C) Isolated neurofibromas D) Multiple Leiomyomas
the eyes. Calcification of the falx cerebri and bridging of the sella turcica may occur in this syndrome. Pseudohypoparathyroidism (tissue resistance to circulating Parathyroid hormone) has been described in association with Gorlin's syndrome in some families.
Case report A 25-year-old man was referred by his general medical practitioner for the management of a symptomless right facial swelling, present for 2 months and increasing in size during the 2 weeks prior to consultation. His mother's sister had had dental cysts but neither she nor other members of his family could be investigated. Cardiomegaly was detected at birth and subsequent investigations including cardiac catheterization, had revealed a lesion in the left ventricle. He attended for regular cardiological
Table 2. Oral and facial anomalies I. Multiple cysts of the jaws in 65-75% of patients 2. Frontal and temporo-parietal bossing (Pagetoid appearance) 3. Increased cranial circumference 4. Dystopia can thorum or true hypertclorism in about 40% of patients 5. Mild mandibular prognathism 6. Cleft of the lip and/or palate 7. High arched palate 8. Fibroma of the palate or maxillary antrum C.N.S. anomalies I. Calcification of the falx cerebri, found in nearly all patients 2. Bridging of the sella turcica in 60--80% of patients 3. Congenital communicating hydrocephalus 4. Cysts of the choroid plexus of the 3rd and lateral ven trides 5. Medulloblastoma 6. Meningioma 7. Anosmia has been described in one family Eye anomalies I. Congenital blindness due to corneal opacity, cataract, glaucoma, coloboma of the choroid and optic nerve 2. Convergent or divergent strabismus
Endocrine anomalies I. Ovarian fibromas and/or cysts with ovarian or uterine calcification 2. Hypogonadism, cryptorchidism, unilateral anorchia, female pubic hair distribution III males 3. Gynaecomastia and/or scanty facial hair 4. Ovarian fibroscarcorna Cardiac anomalies 1. Fibroma of the left ventricle (neonatal) Skeletal anomalies I. Splayed and/or bifurcated rib 2. Synostosis, partial agenesis, pseudoarthrosis, and rudimentary cervical ribs 3. Kyphoscoliosis 4. Cervical and/or upper thoracic vertebral fusion or lack of segmentation 5. Bridging of the vertebral sulcus of the atlas 6. Spina bifida occulta 7. Sprengel deformity and medial hooking or dysplasia of the scapula 8. Pectus excavatum and carinatum 9. Shortened metacarpals 10. Other anomalies include: polydactyly, arachnodactyly, hallux valgus, minor cortical defects oflong bones and bilateral syndactyly of the second and third fingers
GORUN'S SYNDROME
61
Fig. 1. (A) Full face view showing a marked (R) facial swelling, bilateral proptosis, and mild
hypertelorism. (B) Lateral profile showing the right sided facial swelling.
F ig. 2. OPG, showing cystic lesions in (R) mandibular angle, cyst distal to -7, large cyst (R) maxilla 8 + to 3 +, cyst (L) maxilla + 1 to + 6, cyst distal to + 7 with radiopaque lesion superio r to it.
62
HARRIS AND LARGE
assessment but had no symptoms from the lesion. Examination revealed a well-developed man with hypertelorism, bilateral proptosis. small orbits and bilateral frontal prominence. The ears were low set and the nape of the neck rather wide (Fig. 1). There was a marked thoracic kyphoscoliosis. A violaceous patch was noted over the right arm which had been present since birth, but no basal cell naevi were seen. The nipples were widely spaced and hypoplastic and the anterior ribs flattened. The legs showed mild genuvarum. He had rockerbottom feet and pes planus. There was a mild mandibular prognathism with a high arched palate. The swelling on the right side of his face was tender and intra-orally, a fluctuant swelling extended from the right upper canine to the right upper second molar tooth. There were no clinical abnormalities of the cardiovascular or neurological systems. Radiographs of the jaws revealed multiple cystic lesions (Fig . 2). These comprised a large cyst in the right mandible extending from the distal aspect of the second molar into the ramus enclosing an unerupted third molar, and a small cyst in the left mandible distal and lingual to the second molar. In the right maxilla, a large cyst extended from the upper canine to the tuberosity including an unerupted third molar, and 2 large cystic areas were present in the left maxilla one extending from the left upper central incisor to the upper first molar and the second extending from the distal aspect of the second molar into the tuberosity with a solid area within it and an associated unerupted third molar (Fig. 3). Radiographs of the cervical and dorsal spine showed upper thoracic scoliosis concave to the left, Schmorl's nodes
a .M. view showing extent of the solid (radiopaque) lesion in the (L) maxilla.
Fig. 3.
and spina bifida occulta of C7. Skull radiographs showed calcification of the falx cerebri with bridging of the sella turcica and calcification of the inter-petrous ligaments. Radiographs of the feet showed abnormal angulation between the cuboid and the first metatarsal; the cubo id, first metatarsal and talocalcaneal joints also appeared abnormal. The metacarpals were short, hence the clinical appearances. Echocardiography and vector scan confirmed the presence of a solid lesion in the cavity of the left ventricle, attached to the left ventricular wall. Echo densities and colour coding of the lesion showed areas of calcification, but the remaining tissue was not fibrous, cystic or myocardial. Since the patient had no cardiac symptoms and the lesion was not increasing in size, there was no indication to proceed to endocardial biopsy. The precise histology therefore, remains obscure . Metabolic investigations were carried out to determine whether tissue resistance to parathyroid hormone (PTH) was present (pseudo hypoparathyroidism). The results were as follows: fasting serum calcium 2.33 mmolfl (normal 2.152.65 mmol/l); phosphate 1.22 mrnol/l (normal 0.7-1.4 mmol/l); serum creatinine 84 /lmolfl (normal up to 135 /lmolfl); alkaline phosphatase 82 iufl (normal up to 100 iu/l) ; PTH 0.5, 0.6 ng/rnl (normal 0.1-0.8 ng/ml); 24 h urine calcium 4.79 mmol (normal). Index of calcium excretion (CAE) 0.039, 0.034 mmol/l of glomerular filtrate (gf) (normal). Maximum renal tubular reabsorption capacity for phosphate (TMP/GFR) 1.26 mmol/l of g.f, (normal 1.0--1.68 mmolfl) of g.f.) Nephrogenic cAMP levels 18.6 nmol/l of g.f. (normal range 2.3-24 nmol/l of g.f.), These results
GORLIN'S SYNDROME
.'
f,'
:
,r ....
",
'i:'. -
.......
l.,,~
...
Fig. 5. Photomicrograph of lesion in (L) maxilla showing cellular fibrous tissue and the myxomatous stroma.
show normal parathyroid function and normal renal responsiveness to physiological levels of circulating PTH. A PTH infusion was not performed because of the slight risk ofa hypersensitivity reaction in a patient with a cardiac lesion. Had this been possible, we believe the results would have been consistent with the above findings which show no evidence of pseudohypoparathyroidism. Under endotracheal anaesthesia, the cystic lesions in the mandible were enucleated and primary closure was effected. Those in the maxilla were enucleated and the cavities packed. Histological examination showed all the cysts to be odontogenic keratocysts (Fig. 4), except for the solid soft tissue lesion in the tuberosi ty area of the left maxilla. The histology of this was unusual, comprising cellular fibrous tissue and abundant myxomatous stroma (Fig. 5). Clustered islands of epithelium with focal areas of unusual epithelial hyperplasia were also present.
Discussion The multiple basal cell naevus syndrome was probably first reported by JARISCH 7 , although the features in his patients were mainly confined to the visible cutaneous lesions. STRAITH 1 1 first described the association of basal cell carcinomata and multiple cysts of the jaws, and demonstrated the hereditary tendency. BINKLEY & JOHNSON! described a woman with basal cell naevi, dental cysts, agenesis of the corpus cal-
63
losum, a bifid rib and a fibroma of the ovary. These authors were the first to note an associated skeletal anomaly. The syndrome has been a well-recognized entity since the classic description by GORLIN & GOLTZ 3 . Metabolic investigations have been carried out by several workers. BLOCK & CLENDENNING 2 , noted a reduced phosphaturic response after intravenous administration of parathyoid hormone (PTH) in 2 patients, and suggested that this syndrome may represent a variant of pseudohypoparathyroidism, particularly as some of the clinical features are common to both. Abnormal aspects of calcium and phosphorous metabolism were documented by GORLIN et al:", and their findings were substantiated by GORLIN et a/.4 • However, KAUFMAN & CHASEs, studied 2 affected families and found no evidence of hyporesponsiveness to PTH, and the study of STOELINGA et aL1 0 was inconclusive in this respect. Biochemical investigations of parathyroid function in our own patient showed no abnormalities. A very unusual finding however, was the presence of an intra-cardiac lesion, and we have found only one previous report of a cardiac lesion in patients with this syndrome. LITTLER 9 reported 3 cases of Gorlin's syndrome one of whom developed a neonatal left ventricular fibroma which was successfully excised.
Conclusions This patient has many of the features of the basal cell naevus syndrome, apart from the cutaneous lesions. He also has an intracardiac lesion which has been present since birth and which has not been previously reported in association with this syndrome. Since the anomalies which Godin's syndrome encompasses are so diverse, it is
64
HARRIS AND LARGE
possible that cardiac involvement may be more common than hitherto suspected. This is particularly so as many reports were published before reliable, non-invasive methods of cardiac investigation were available. We suggest that echocardiography be carried out in patients with Gorlin's syndrome to confirm or refute this suggestion. Although the histology of the cardiac lesion remains unknown, it is interesting to speculate that it may resemble the unusual fibrous tissue with myxomatous stroma found within the cystic lesion in the left maxilla. Acknowledgement - The authors are grateful to Mr. A. A. Quayle, Senior Lecturer and Consultant in Oral Surgery for his guidance, advice and for allowing us to report his patient.
References 1. BINKLEY, G. W. & JOHNSON, H. H.: Epithelioma adenoides cysticum: basal cell nevi, agenesis of corpus callosum and dental cysts. Arch Dermatol. Syph. 1951: 63: 73-84. 2. BLOCK, J. B. & CLENDENNING, W. E.: Parathyroid hyporesponsiveness in patients with basal cell naevi and bone defects. New England Journal of Medicine 1963: 268: 1157Il62. 3. GORLIN, R. J. & GOLTZ, R. W.: Multiple naevoid basal cell epithelioma, jaw cysts and bifid rib. A syndrome. New England Journal of Medicine 1960: 262: 908-912. 4. GORLIN, R. J., VICKERS, R. E., KELLIN et al.: The multiple basal cell naevi syndrome. An
analysis of a syndrome consisting of multiple naevoid basal cell carcinoma jaw cysts, skeletal anomalies, medulloblastoma and hyporesponsiveness to parathormone. Cancer 1965: 18: 89-104. 5. GORLlN, R. J., YUNIS, J. J. & TUNA, N.: Multiple naevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. Acta Dermato-oenereologica 1963: 43: 39-55. 6. GORLlN, R. 1., PINDBORG, J. 1. & COHEN, M. A.: Syndromes of the head and neck, 2nd edition. McGraw-Hill Book Company, NY, USA 1976, pp. 520-525. 7. JARtsCH, A.: Zur Lehre von den Hautgeschwulsten. Archiv fur Derrnatologie und Syphilis 1894: 28: 163-222. 8. KAUFMAN, R. L. & CHASE, L. R.: Basal cell nevus syndrome, normal responsiveness to parathyroid hormone. Birth defects. Original Article Series 1971: 7: 149-155. 9. LITTLER, B.D.: Gorlin's syndrome and the heart. Br. J. Oral Surg. 1979: 17: 135-146. 10. STOELINGA, P. J. W., PETERS, J. H., VANDE STAAK, W. J. B., et al.: Some new findings in the basal cell nevus syndrome. Oral Surgery, Oral Medicine, Oral Pathology 1973: 36: 686692. 11. STRAITH, F. E,: Hereditary epidermoid cysts of the jaws. American Journal of Orthodontics and Oral Surgery 1939: 25: 673-691.
Address:
Shafiq A. Harris Department of Oral Surgery University Dental Hospital Bridgeford Street Manchester MI3 England