|Year : 2021 | Volume
| Issue : 1 | Page : 95-98
Mc cune albright syndrome - Clinicoradiological diagnosis of a rare case
Anka Sharma1, Anirudh Upmanyu2, Vikrant O Kasat1, Amit R Parate1
1 Department of Oral Medicine and Radiology, Government Dental College and Hospital, Aurangabad, Maharashtra, India
2 Department of Dentistry, Jag Pravesh Chandra Hospital, New Delhi, India
|Date of Submission||01-Oct-2020|
|Date of Decision||23-Nov-2020|
|Date of Acceptance||31-Dec-2020|
|Date of Web Publication||26-Mar-2021|
Dr. Anka Sharma
Department of Oral Medicine and Radiology, Government Dental College and Hospital, Aurangabad, Maharashtra - 431 001
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Mc Cune Albright Syndrome (MAS) is a rare, sporadic disorder characterized by a triad of symptoms: fibrous dysplasia, cafe-au-lait spots, and endocrinopathy. It is thought to be caused by the mutation of the GNAS1 gene and is predominantly a disease of females. We hereby report a case of a 40-year-old man who presented with suppuration and mobility of teeth in the maxillary left posterior region. The patient also had a history of recurrent fractures of limbs since childhood. Clinical examination revealed asymmetry of the face, brownish-tan macules on the nape of the neck, back, and bilateral buccal mucosa as well as lower labial mucosa. The radiological investigation confirmed the presence of polyostotic fibro-osseous lesion while the biochemical investigations revealed endocrinopathy (hyperparathyroidism). This case report emphasizes the role of an oral physician in arriving at the diagnosis of a complex disorder like MAS.
Keywords: Café-au-lait spots, hyperparathyroidism, polyostotic fibrous dysplasia
|How to cite this article:|
Sharma A, Upmanyu A, Kasat VO, Parate AR. Mc cune albright syndrome - Clinicoradiological diagnosis of a rare case. J Indian Acad Oral Med Radiol 2021;33:95-8
|How to cite this URL:|
Sharma A, Upmanyu A, Kasat VO, Parate AR. Mc cune albright syndrome - Clinicoradiological diagnosis of a rare case. J Indian Acad Oral Med Radiol [serial online] 2021 [cited 2021 Apr 15];33:95-8. Available from: https://www.jiaomr.in/text.asp?2021/33/1/95/312203
| Introduction|| |
McCune Albright syndrome (MAS) is a rare, sporadic disorder, occurring in one in 1,00,000 to one in 10,00,000 of the population worldwide. This entity was first reported in 1937 by Donovan James Mc Cune and Fuller Albright. The classical form of this disorder is characterized by a triad of polyostotic fibrous dysplasia, skin hyperpigmentation due to café-au-lait spots, and endocrine dysfunctions. The non-classical form consists of at least two features of the triad. The diagnosis can be made solely from imaging especially if endocrinopathies and clinical features are characteristic. This puts an oral physician in a position to diagnose this rare condition. We hereby report the classical form of this syndrome in a male patient who presented with secondary complication as the chief complaint.
| Case History|| |
A 40-year-old man reported to the department of Oral Medicine and Radiology with a chief complaint of mobility with an upper left posterior tooth for four months and pus discharge for three days. A similar episode had occurred six months back; had subsided on taking medication from a local practitioner. The past medical history revealed multiple fractures of limbs (operated for left leg fracture 15 years back), progressive increase in the asymmetry of face for 15 years, and reduction in the visual acuity of the left eye.
On general examination, the patient was conscious, cooperative, and well-oriented to time, place, and person (ASA1). He had a limping gait and a slumped posture.
Extra-orally, a diffuse swelling was evident on the left side of the face, involving the forehead, skull, and malar region [Figure 1]a. It was of the same color as the adjacent skin. On palpation, the swelling was hard. It was tender in the malar region. Café-au-lait spots were evident on the nape of the neck and back (also showed scoliosis) [Figure 1]b. Intraorally, diffuse swelling of the same color as adjacent mucosa was evident on the buccal aspect of the left maxillary ridge with suppuration in the 24-25 region [Figure 1]c. On palpation it was hard; tenderness was elicited in the 24-25 region. The labial and buccal mucosa showed multiple brownish-black hyperpigmentations [Figure 1]d. 26 was Grade III mobile.
|Figure 1: 1a. Prominent left half of the face (forehead, skull, and malar). 1b. Café-au-lait spots present on the nape of the neck and back, on either side of the midline. The borders are irregular. Also, note scoliosis of the back. 1c. Expansion of the left buccal cortical plate with ulceration of the attached gingiva in 24-25 region. 1d. Well defined brownish-black macules evident on either buccal mucosa and lower lip|
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Intra oral periapical radiograph [Figure 2]a of the maxillary left posterior region showed severe root resorption with 26, indistinct lamina dura, homogenous trabeculae with rarefaction in the 24-26 region obscuring the floor of the sinus.
CBCT [Figure 2]b, [Figure 2]c, [Figure 2]d revealed multiple, diffuse, mixed radiolucent- radiopaque lesions involving the entire craniofacial region and the first, second, and third cervical vertebrae. The cranial bones and the maxilla showed considerable expansion (more on the left side). Sagittal view [Figure 2]b showed widened diploe of the skull (pagetoid feature). All the paranasal sinuses were obliterated. In the coronal view [Figure 2]c, multiple cyst-like radiolucencies were evident in the mandible, left frontal bone, left zygoma, and left maxilla. The size of the left orbit appeared reduced compared to the right. An ill-defined lytic lesion was evident in the maxilla in the axial view [Figure 2]d. Pelvis A-P view [Figure 3]a showed multiple lytic lesions in the femur, sacrum, and spine and Shepherd's crook deformity of the right femur. Based on the history, clinical and radiological findings, a diagnosis of polyostotic fibrous dysplasia with the secondary complication of chronic suppurative osteomyelitis was made. Given the widespread involvement of the skeleton, a bone scan was advised to detect other bones affected. A biochemical assay was also done to rule out endocrinal abnormalities. As suspected, the bone scan [Figure 3]b revealed hot spots in the skull, maxilla, mandible, multiple bilateral ribs, sternum, spine, left scapula, left humerus, sacrum, bilateral femur, and tibia. Biochemical investigations revealed: Serum calcium 9.2 g/dL (Normal: 9–11 mg/dL), Vit D: 20.90 ng/mL (>30ng/ml), Serum Alkaline phosphatase- 496 IU (44–147 IU/l) suggesting a bone metabolism disorder. PTH: 264.60 pg/mL (14–72 pg/mL) was suggestive of underlying endocrinal abnormality (Hyperparathyroidism). TSH, free T3, T4, and Prolactin levels were within the normal range.
|Figure 2: 2a. Intra-oral periapical radiograph with the left maxillary posterior region showing loss of lamina dura and extensive root resorption with 26. Also, note the indistinct trabeculae and area of rarefaction in the 24-26 region. 2b. Sagittal view showing widened diploe table of the skull. Note obliteration of the frontal, maxillary, ethmoid, and sphenoid sinus. 2c. Coronal view showing multiple, ill-defined cystic lesions in the cranium and maxilla. Note the reduction in the size of the left orbit. 2d. Axial view showing an ill-defined lytic lesion in the left maxilla|
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|Figure 3: 3a. Pelvis A-P view showing multiple lytic lesions in the entire sacrum and either femur. Plating in the left femur suggestive of previous fracture. 3b. Bone scan showing hot spots in the cranium, ribs, spine, sacrum and femur|
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Collaborating the history, clinical features, radiographic and biochemical investigations, a final diagnosis of Mc Cune Albright Syndrome (MAS) with the secondary complication of chronic suppurative osteomyelitis was made.
The patient was put on antibiotic coverage (Tab Amoxycillin + Clavulanic acid 625 mg b.i.d for five days, Tab metronidazole 400 mg t.i.d for five days) along with analgesics (Tab Aceclofenac t.i.d for five days). He was referred to the endocrinologist for further evaluation and management of hyperparathyroidism. Cholecalciferol 60,000 IU, once a week for six weeks, in addition to calcium supplements, was advocated. The opinion of an ophthalmologist was also sought for, where he was appointed for further management. Post endocrinal management, he was appointed for oral prophylaxis followed by extraction of 26 and curettage of the affected region.
Timeline for the case report is tabulated in [Table 1].
Follow-up and outcome
The patient was unfortunately lost to follow-up after the treatment.
| Discussion|| |
MAS results from the post-zygotic somatic mutation in the GNAS 1 gene on chromosome 20q13-13.2 coding for the alpha subunit of stimulatory G protein. This disorder is considered sporadic as not all the cells in the body harbor this mutation, which is why there is a great disparity in the clinical presentation of this syndrome. The onset of mutation determines the degree of involvement. Earlier the mutation, more widespread is the involvement. The most important aspect of genetics is counseling and reassurance of the patient and families that there is no vertical transmission of the disease, and therefore, parents need not feel responsible.
The classical form of the disease has a triad of symptoms- polyostotic fibrous dysplasia, Café-au-lait spots, and endocrinopathies. The patient experiences a plethora of symptoms like dull aching pain, recurrent fractures, limb deformities, scoliosis of the back, and an abnormal gait. The present case had scoliosis of the back and a limping gait owing to multiple fractures in the past. Radiographically, the altered bone appears pagetoid (56%), sclerotic (23%), or cystic (21%). In the present case, the pagetoid features were apparent in the skull while cystic features were present in the rest of the skeleton.
Café-au-lait spots are predominantly found on the nape of the neck, back, trunk, and buttocks and are seen in approximately 53.1–92.5% of cases. They have irregular borders resembling the Coast of Maine, unlike those in neurofibromatosis. Usually, they respect the midline and are more extensive on the side showing the most severe bone involvement. Few cases have been reported where café-au-lait spots cross midline similar to our case.
Gonadotropin-independent precocious puberty is the most common endocrinopathy observed (usually in females). Hyperthyroidism, growth hormone and prolactin excess, hyperparathyroidism, and Cushing syndrome are other associated endocrinopathies. The present case was diagnosed with hyperparathyroidism. The presence of this endocrinopathy helped in clinioradiological diagnosis of the present case.
The oro-dental variations and management are poorly understood in MAS owing to the few numbers of cases reported. Mehra et al. reported MAS in a 12-year-old male with macroglossia and enlarged tongue papillae. In the present case, the patient had multiple brown flecks arranged linearly on both the buccal and lower labial mucosa. A comprehensive evaluation of dental findings was done by Akintoye et al., enlisted tooth rotation, oligodontia, displacement, enamel hypoplasia, taurodontism, over-retained teeth, and attrition as the most common anomalies seen in MAS. None of these were present in the present case.
Dental management of MAS patients is usually overlooked as other concomitant systemic findings take away the limelight. The role of an oral medicine and radiology specialist is of utmost importance to diagnose and evaluate the patient at the earliest if they present with orofacial manifestations.
For craniofacial dysplasia, observation is usually the best approach, with annual hearing and vision testing, and imaging to monitor progression. Severe malocclusion requires orthodontic management. The chances of relapse are higher in such patients and hence, orthodontic management should be initiated after the cessation of active bone formation (usually puberty).
The teeth are prone to caries and taurodontism adds to the complication. It is usually evident in patients with one or more endocrinopathy. Hence, if a taurodont is evident in a patient with fibrous dysplasia, thorough screening must be done to rule out the presence of endocrinopathies. The teeth must be inspected for any carious lesion. Fluoride varnishes fortnightly reduce the risk of caries significantly. Surgery is generally reserved for actual and impending pathologic fractures or the loss of vital functions (blindness, hearing loss) and deformity correction. Because recurrence rates are high after curettage and bone grafting, cortical bone grafts are preferred over cancellous grafts because of their slower resorption. In the present case, curettage of 26 region was performed. However, the patient was lost to follow-up, hence the follow-up details are not available.
When café-au-lait spots are the presenting feature, MAS can be confused with neurofibromatosis (NF). However, in NF, these spots have a regular border, while in MAS they have an irregular border. Clinically, NF presents with multiple swellings over the body whereas such swellings are not evident in MAS. Also, radiographically, MAS affects multiple bones, especially the base of the skull and proximal femur, whereas skeletal involvement is rare in NF. MAS can also be confused with FD. However, the presence of concomitant endocrinopathies and café-au-laits sets MAS apart from FD. If recurrent fractures are the chief complaint, MAS can be confused with osteopetrosis and pycnodysostosis. However, osteopetrosis has dense sclerotic bones on the radiograph giving a candle-stick appearance, while in pycnodysostosis the patient has a short stature and shows acral osteolysis of terminal phalanges.
| Conclusion|| |
MAS is a multisystem disorder. A panel of specialists (dentist, radiologist, orthopaedist, and endocrinologist) is mandatory for early diagnosis and management. The classical case can be diagnosed clinicoradiographically. For non-classical cases, a biopsy can be done. Dental anomalies like taurodontism, enamel hypoplasia increase the risk of early pulpal involvement. The bone has an altered structure; hence the risk of osteomyelitis increases many folds. Currently, there is no definitive treatment for this condition and prenatal diagnosis is not possible. Depending on the chief complaints of the patient, management can be initiated. Recently, bisphosphonate therapy has shown some promising results as it helps to diminish pain, prevent fracture, and partial resolution of the lesions.
“I have pain in my bones and I am scared of enduring another fracture. I am concerned about my kids. I wish they do not face the problem I have faced.”
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
The authors acknowledge Dr. Ashita R. Kalaskar for critical evaluation of the manuscript.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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