22 CLINICAL CASES IN MINERAL AND BONE METABOLISM The Official Journal of the Italian Society of Orthopaedics and Medicine (OrtoMed) CIC Edizioni Internazionali Roma, Italyinfo@gruppocic.ithttp://www.gruppocic.com/http://www.ccmbm.com 2017 September - December; 14(3): 332–335. ISSN: 1724-8914 ISSN: 1971-3266
Published online 2017 December 27. doi: 10.11138/ccmbm/2017.14.3.332.

Secondary aneurysmal bone cyst in McCune-Albright syndrome

Symeon Tournis,1 Alexia Balanika,2 Panayiotis D. Megaloikonomos,3 and Andreas F. Mavrogenis3

1Laboratory for the Research of Musculoskeletal System “Th. Garofalidis”, National and Kapodistrian University of Athens, School of Medicine, KAT General Hospital, Athens, Greece
2Department of Radiology, Asklipion Voulas General Hospital, Athens, Greece
3First Department of Orthopaedics, National and Kapodistrian University of Athens, School of Medicine, ATTIKON University Hospital, Athens, Greece

Address for correspondence: Symeon Tournis, Laboratory for the Research of Musculoskeletal System “Th. Garofalidis”, National and Kapodistrian University of Athens, School of Medicine, KAT General Hospital, Nikis 1, 14561, Athens, Greece, E-mail: stournis@med.uoa.gr


Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune-Albright syndrome are exceptional.

We present a 28-year-old female with McCune-Albright syndrome. She experienced precocious puberty at age 3 months. In childhood, she experienced multiple long bone fractures, facial deformity and progressive visual and hearing impairment. One year ago, she experienced a painful, gradually enlarging bone lesion involving the right ilium, pubic and ischial bone with groundglass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion resulting in localized thinning of the cortex. CT-guided needle biopsy of the pelvic lesion showed aneurysmal bone cyst. Selective arterial embolization was recommended, however, the patient and her relatives did not consent to proceed to treatment, and she remained in close surveillance thereafter.

Keywords: fibrous dysplasia, polyostotic, McCune-Albright syndrome, aneurysmal bone cyst, secondary


Fibrous dysplasia (FD) of bone is a rare sporadic congenital disorder that was firstly described by Lichtenstein in 1938. It is a benign condition characterized by abnormal proliferation of fibrous tissue interspersed with normal or immature bone (1). Somatic activating mutations in the cAMP-regulatory protein Gsa, result in osteoblast differentiation deficit, fibrous medullary proliferation and osteoblast hyperactivity. FD may present with monoostotic or polyostotic involvement (1). Polyostotic FD combined with cutaneous hyperpigmentation (cafe-au-lait macules) and hyperfunctioning endocrinpathies (most commonly precocious puberty, hyperthyroidism, acromegaly, and Cushing’s syndrome) is termed as Albright triad or McCune-Albright syndrome (MAS) (1, 2).

Aneurysmal bone cyst (ABC) is a benign bone lesion characterized by blood spaces separated by connective tissue septa. ABC is usually a primary lesion; secondary ABC to an underline condition are rare. The most common entities associated with ABC is giant cell tumor of bone; secondary ABC in FD (3, 4) and MAS (5) is exceptional. This case report presents a female patient with MAS and secondary ABC, and discusses the clinical manifestations and treatment options for this rare entity.

Case report

We present a 28-year-old woman (55 kg weight, 1.40 m height) with cafe-au-lait macules and a medical history of precocious puberty at age 3 months. At that time, she was treated with testolactone. At age 2.5 years, due to poor response to testolactone she underwent bilateral ovariectomy. Gradually, she developed facial deformity and progressive visual and hearing impairment, due to involvement of the craniofacial region. At age 8 years, she received radioactive iodine (I-131) treatment for hyperthyroidism. At childhood, she experienced multiple long bone fractures, which were mostly re-fractures of both femurs. Currently, at age 28 years, she has hypothyroidism treated with thyroxine, and secondary amenorrhea. Laboratory tests show elevated alkaline phosphatase levels (1662 IU/L; normal range, 40–150 IU/L), normal calcium (9.1 mg/dl) and phosphate (3.1 mg/dl) levels, vitamin D deficiency (14.5 ng/ml; normal range, 20–50 ng/ml), and secondary hyperparathyroidism (PTH, 94.2 pg/ml; normal range, 10–65 pg/ml). Her family medical history is insignificant.

Over the last 1 year, she experienced progressive pain to the right hemipelvis and ipsilateral hip. Radiographs of the pelvis showed a gradually enlarging, expansile lytic lesion involving the right ilium, pubic and ischial bone with groundglass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion with thinning of the cortex (Figure 1). “Shepherd’s crook” deformity and osteosyntheses of both femurs were evident. Computed tomography (CT) showed an enlarged trabeculated lesion with fluid-fluid levels (Figure 2). Radiograph of the skull and facial bones showed deformity and a pagetoid pattern including osteolytic lesions and wavy bone sclerosis (Figure 3). CT-guided needle biopsy of the pelvic lesion showed ABC. Selective arterial embolization of the ABC was recommended, however, the patient did not consent to proceed to any treatment, and she remained in close surveillance thereafter.

Figure 1Figure 1
Radiograph of the pelvis shows a large lytic lesion at the right ilium, pubic and ischial bone with ground-glass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion resulting in localized thinning of the cortex.
Figure 2Figure 2
Coronal CT scan shows an enlarged trabeculated lytic mass at the right pelvic bones with cortical disruption and fluid-fluid levels.
Figure 3Figure 3
Radiograph of the skull and facial bones shows deformity and a pagetoid pattern including osteolytic lesions and wavy bone sclerosis.


MAS presents a broad phenotype with involvement of any combination of skin, skeleton or endocrine systems. Diagnosis is usually established on clinical grounds, plain radiographs and CT scans (1). GNAS gene testing reveals GNAS activating mutations. Medical history including extraskeletal manifestations is very important. Cafe-au-lait macules are supposed to be the first manifestation, shortly after birth. Nonetheless, FD lesions usually are not apparent before the first years of life (1, 6). These lesions commonly lead to bone pain and insufficiency fractures (6). Precocious puberty may be the presenting symptom in 80% of girls with MAS (1).

Similar manifestations may occur in other entities including monostotic FD, Mazabraud’s syndrome, neurofibromatosis type 1, and Jaffe-Campanacci syndrome. Mazabraud’s syndrome is FD combined with single or multiple soft-tissue myxomas (7). Neurofibromatosis type 1 (von Recklinghausen disease) is an autosomal dominant disorder characterized by multiple peripheral nerve neurofibromas, cafe-au-lait macules, axillary or inguinal freckling, optic nerve gliomas, iris hamartomas, and bone dysplasia (8). Multiple cafe-au-lait macules and multiple histiocytic fibromas are the prominent features of Jaffe-Campanacci syndrome; however, lesions tend to appear in the metaphysis of long bones (9). Diagnosis of MAS, as in this patient, should be established based on the non-inherited pattern of the disease and the combination of polyostotic FD, cafe-au-lait macules and hyperfunctioning endocrinopathies (1). Craniofacial bones are involved in 90% of cases, whereas the base of skull in 95% of cases, and the temporal bone in 70% of cases (10). Craniofacial involvement may result in visual and hearing impairment, trigeminal neuralgia, headaches, and epiphora (4). Mechanical stress and repeated fractures result in bowing and deformities of the affected bones, whereas “shepherd’s crook” coxa vara is typical (1).

ABC is a benign, tumor-like bone lesion composed of multiple cystic blood-filled compartments. It occurs more commonly as primary lesions, and rarely as secondary lesions to other entities. Secondary ABC to FD is unusual, whereas secondary ABC to MAS is exceptional (5). FD is thought to be susceptible to bone cyst formation because of the vascularity of the lesion. These cystic lesions can often be filled with an amber fluid that may occasionally be vascular. Radiographically, secondary ABC lesions show an expansile cystic morphology, with a bony shell and fluid or soft tissue center. Fluid-fluid levels are typical but not pathognomonic. In atypical lesions, histological diagnosis is necessary (1–5).

Pharmaceutical agents such as bisphosphonates may be administered to inhibit bone resorption in FD, and aromatase inhibitors and tamoxifen citrate may be useful in precocious puberty in MAS (11). Surgical treatment is challenging as there is limited data providing indications or techniques. Therefore, considering that FD lesions in MAS are benign, surgical interventions should be done only when necessary. Asymptomatic lesions may be conservatively followed, if there is no risk for fracture or mass effect. Surgery should be individualized; in general, orthopedic procedures that focus on the prevention or osteosynthesis of fractures and improvement of deformities are considered the mainstay of treatment (1). Similarly, treatment of secondary ABC should be tailored according to the anatomic region involved, extent of lesions, and patients’ needs. As such, there is a wide spectrum of treatment methods for secondary ABC in FD including CT-guided polidocanol sclerotherapy, partial resection of the involved bone, and curettage, local adjuvants, bone grafts and osteosynthesis (12). Above the knee amputation for a secondary ABC in FD of the tibia has also been reported for disease and symptoms control (13). For cranial and skull base secondary ABC in FD, endonasal procedures have been reported (3, 14). Other Authors reported a 14-year-old female with MAS and double secondary ABC in occipital regions and FD from the scull base to the C2 vertebra with Chiary type 1 malformation treated with complete resection and reconstruction of the calvarial defects with biocompatible cranium grafts (5).

Traditionally, the treatment of choice for ABC included curettage with or without local adjuvants such as acrylic bone cement, argon beam, phenol, or cryotherapy. En bloc resection and radiotherapy are historical therapies that are not recommended because of high morbidity. Current treatment of choice include selective arterial embolization, which may be applied as primary treatment or as adjunct to surgery (15), sclerotherapy that damages the endothelium inducing coagulation cascade and thrombosis, and percutaneous intralesional doxycilin administration. Clinical and imaging follow-up is required for persistent or recurrent lesions.


Financial disclosure

All Authors declare that they have no conflicts of interest.

Robinson C, Collins MT, Boyce AM. Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. Current Osteoporosis Rep. 2016;14(5):178–186.
Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325(24):1688–1695.
Terkawi AS, Al-Qahtani KH, Baksh E, Soualmi L, Mohamed Ael B, Sabbagh AJ. Fibrous dysplasia and aneurysmal bone cyst of the skull base presenting with blindness: a report of a rare locally aggressive example. Head Neck Oncol. 2011;3:15.
Itshayek E, Spector S, Gomori M, Segal R. Fibrous dysplasia in combination with aneurysmal bone cyst of the occipital bone and the clivus: case report and review of the literature. Neurosurgery. 2002;51(3):815–817. discussion 817–818.
Urgun K, Yilmaz B, Toktas ZO, et al. Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Co-existence in a Patient with McCune-Albright Syndrome. Pediatr Neurosurg. 2016;51(5):253–256.
Hart ES, Kelly MH, Brillante B, et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Min Res. 2007;22(9):1468–1474.
Zoccali C, Teori G, Prencipe U, Erba F. Mazabraud’s syndrome: a new case and review of the literature. Int Orthop. 2009;33(3):605–610.
Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016;5(2):98–104.
Hau MA, Fox EJ, Cates JM, Brigman BE, Mankin HJ. Jaffe-Campanacci syndrome. A case report and review of the literature. J Bone Joint Surg Am. 2002;84-A(4):634–638.
Couturier A, Aumaitre O, Gilain L, Jean B, Mom T, Andre M. Craniofacial fibrous dysplasia: A 10-case series. Eur Ann Otorhinolaryngol Head Neck Dis. 2017 S1879-7296(17)30042-X.
Eugster EA, Shankar R, Feezle LK, Pescovitz OH. Tamoxifen treatment of progressive precocious puberty in a patient with McCune-Albright syndrome. J Pediatr Endocrinol Metab. 1999;12(5):681–686.
Montalti M, Alberghini M, Ruggieri P. Secondary aneurysmal bone cyst in fibrous dysplasia of the proximal femur. Orthopedics. 2009;32(5):363.
Anderson N, DiBella C, Pianta M, Slavin J, Choong P. Aggressive aneurysmal bone cyst in association with polyostotic fibrous dysplasia: A case report. Int J Surg Case Rep. 2015;12:52–56.
Salmasi V, Blitz AM, Ishii M, Gallia GL. Expanded endonasal endoscopic approach for resection of a large skull base aneurysmal bone cyst in a pediatric patient with extensive cranial fibrous dysplasia. Childs Nerv Syst. 2011;27(4):649–656.
Rossi G, Mavrogenis AF, Facchini G, Bartalena T, Rimondi E, Renzulli M, Andreone A, Durante S, Angelini A, Errani C. How effective is embolization with N-2-butyl-cyanoacrylate for aneurysmal bone cysts? Int Orthop. 2016 [Epub ahead of print].