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Medicine (Baltimore) 2018 Apr;97(17):e0512

Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University.

Rationale: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

Patient Concerns: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. Read More

Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257

Gynecologic Oncology Center, Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:

Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance.

Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Read More

BMC Musculoskelet Disord 2017 04 13;18(1):155. Epub 2017 Apr 13.

Spine Surgery, The First Affiliated Hospital of Guangzhou Medical University, 151 Yanjiang West Road, Guangzhou, 510000, China.

Background: Enchondroma, a subtype of chondroma, originates from the medullary cavity of the bone and produces an expansile growth pattern. Enchondroma located in the spine is rare and a few cases of large thoracic enchondroma have been reported. The authors document a rare case of large enchondroma in the thoracic spine of a 49-year-old woman, and discuss its clinical, radiological and histopathological characteristics. Read More

Vet Radiol Ultrasound 2018 Sep 24;59(5):E50-E55. Epub 2017 Feb 24.

Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.

A 7-year-old crossbreed dog presented for lameness with diffuse soft tissue swelling in the right fore limb. Radiographs identified increased opacity of medullary cavity involving the radius and ulna. Whole-body computed tomography (CT) revealed mineral attenuation in the medullary cavity of multiple bones. Read More

Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5

Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near growth plates. Previous studies demonstrate that individuals diagnosed with Maffucci syndrome have approximately 100% lifetime risk of malignant transformation. Identification of Maffucci syndrome by surgical excision and pathological diagnosis can be life-saving due to its high malignant potential relative to other subtypes of enchondromatosis such as Ollier's disease. Read More

Am J Med Genet A 2015 Nov 14;167A(11):2758-66. Epub 2015 Jul 14.

Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.

Genochondromatosis is an extremely rare autosomal dominant disorder, which manifests during childhood and tends to regress in adult life. The bony lesions are symmetrically distributed with characteristic localization at the metaphysis of proximal humerus and distal femur. Two types have been described based on the involvement of clavicle. Read More

Spine J 2015 Jun 13;15(6):e15-9. Epub 2015 Mar 13.

Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08903, USA.

Background Context: Maffucci syndrome is a rare disorder comprising multiple enchondromas associated with multiple hemangiomas. Less than 200 cases have been reported in the literature. Most reported cases comprised lesions of the long bone metaphyses, hands, and feet. Read More

Int J Surg Case Rep 2014 18;5(12):968-71. Epub 2014 Oct 18.

Department of Cardiac, Thoracic and Vascular Surgery, National University Hospital, Singapore.

Introduction: Enchondromas are benign tumours derived from cartilaginous tissue and they rarely undergo malignant transformation unless they occur in multiple sites such as in the case of Ollier disease.

Presentation Of Case: We report a rare case of a 36-year-old Chinese female, without any past medical history, who had a right chest wall tumour which was initially diagnosed to be benign, for which she was loss to follow up. The mass had been stable in size for the past 7 years until recently, when it gradually grew bigger. Read More

Radiologia 2015 Jul-Aug;57(4):344-59. Epub 2014 Jul 4.

Servicio de diagnóstico por la imagen,Hospital de la Santa Creu i Sant Pau , Barcelona, España.

Chondrosarcomas are malignant bone tumors originating in cartilage. Chondrosarcoma is the third most common malignant bone tumor after multiple myeloma and osteosarcoma. About 75% of chondrosarcomas are primary lesions. Read More

Neoplasma 2014 ;61(4):365-78

The Enchondroma is a common, benign, cartilage forming tumour. They usually occur as a single, asymptomatic lesion. Occasionally patients present with multiple enchondromas which is generally defined as enchondromatosis. Read More

J Child Orthop 2013 Dec 21;7(6):455-64. Epub 2013 Sep 21.

Department of Orthopaedic Surgery, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006 Australia ; Centre for Orthopaedic and Trauma Research, University of Adelaide, Adelaide, Australia.

Introduction: Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Read More

J Radiol Case Rep 2013 Jun 1;7(6):22-30. Epub 2013 Jun 1.

Department of Diagnostic Imaging, University of Palermo, Italy.

We report a case of a 56-year old man with chronic pain in both knees for several years. This patient had already undergone surgery on his left knee in 2002 after an x-ray showed multiple lytic and well margined lesions in the distal femur and proximal tibia with ground-glass matrix, involving Hoffa's fat pad and the patellar ligament. Histology was consistent with an enchondroma. Read More

Cancer Sci 2014 Mar;105(3):359-62

Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but not in other benign tumors. Read More

In Vivo 2013 Nov-Dec;27(6):821-6

Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.

Fibrous dysplasia can be monostotic or, less commonly, polyostotic. The imaging features of polyostotic fibrous dysplasia may closely mimic those of metastatic bone disease, Paget disease, or enchondromatosis (Ollier disease). We present a unique case of polyostotic fibrous dysplasia in a 57-year-old female with a medical history of enchondromas involving the proximal phalanges of the left hand. Read More

Eklem Hastalik Cerrahisi 2013 ;24(3):149-55

Department of Orthopedics and Traumatology, Medical Faculty of Ankara University, 06100 Sıhhiye, Ankara, Turkey.

Objectives: In this study, we aimed to investigate the incidence of benign and malignant hand tumors, localization and management approaches.

Patients And Methods: Between March 1986 and October 2008, 191 consecutive patients (86 males, 105 females; mean age 35.06 years; range 1 to 96 years) who were diagnosed with tumors or tumor-like lesions of the hand in our clinic were retrospectively analyzed. Read More

Acta Otorrinolaringol Esp 2014 Jul-Aug;65(4):271-2. Epub 2013 May 31.

Servicio Otorrinolaringología, Sanatorio Allende. Universidad Católica de Córdoba, Córdoba, Argentina. Electronic address:

Ger Med Sci 2013 28;11:Doc06. Epub 2013 Mar 28.

Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia.

Anisospondyly (irregularly shaped vertebral bodies) and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones are the characteristic features in patients with dysspondyloenchondromatosis (DSC). Thoraco-lumbar scoliosis and windswept deformity of the lower limbs were the major abnormalities encountered in this patient. To the best of our knowledge this is the first case report delineating the spine pathology via reformatted CT scan and the correction of a windswept deformity by means of temporary hemiepiphysiodesis in a patient with (DSC). Read More

Diagn Interv Imaging 2013 Apr 7;94(4):395-409. Epub 2013 Mar 7.

Département d'imagerie médicale, service d'imagerie ostéoarticulaire, cliniques universitaires Saint-Luc, 10 avenue d'Hippocrate, Brussels, Belgium.

Cartilaginous tumours of the extremities are commonly seen in radiographs. Enchondroma is the most frequently encountered tumour. Since the vast majority of enchondromas are asymptomatic, they are typically discovered as incidental findings or along with a pathologic fracture. Read More

J Clin Neurosci 2012 Mar 16;19(3):477-8. Epub 2012 Jan 16.

Department of Neurosurgery, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Queensland 4029, Australia.

Ollier disease is a rare disorder characterised by the development of multiple enchondromas in long bones. Here we present a 19-year-old man with Ollier disease who also developed three synchronous brain tumours. Craniotomy, biopsy and debulking was performed for one lesion followed by a period of observation, and 9 months later he underwent a second craniotomy and debulking for symptomatic progression. Read More

J Pathol 2011 Jul 19;224(3):334-43. Epub 2011 May 19.

Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex HA7 4LP, UK.

Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Since patients with multiple enchondromas have occasionally been reported to have these conditions, we hypothesized that the same mutations would occur in cartilaginous neoplasms. Approximately 1200 mesenchymal tumours, including 220 cartilaginous tumours, 222 osteosarcomas and another ∼750 bone and soft tissue tumours, were screened for IDH1 R132 mutations, using Sequenom(®) mass spectrometry. Read More

J Ultrasound Med 2010 Dec;29(12):1849-53

Department of Radiology and Imaging, Hospital for Special Surgery, New York, New York, USA.

Handchir Mikrochir Plast Chir 2010 Oct 23;42(5):299-302. Epub 2010 Aug 23.

Klinik für Hand-, Plastische-, Rekonstruktive- und Verbrennungschirurgie, BG-Unfallklinik Tübingen, Eberhard-Karls Universität, Tübingen.

Introduction: The necessity of spongiosaplasty in the treatment of solitary enchondroma in the hand has been a subject of controversial discussions for several years. Over a period of 10 years the authors performed single curettage without spongiosaplasty. The aim of this study was to investigate our results and to compare these findings with those of other studies. Read More

J Orthop Sci 2010 Jan 12;15(1):112-7. Epub 2010 Feb 12.

Department of Orthopedic Surgery, Kyorin University, Tokyo, Japan.

Background: Simple curettage for enchondroma without augmentation, known to lead to spontaneous bone consolidation at the curettage site, is a potential standard treatment for this condition. However, few detailed data comparing the results of this technique with conventional methods including reconstruction are available, and the relation between the postoperative completion period for bone consolidation and preoperative independent variables is not known.

Methods: The subjects included 38 patients with enchondroma treated with simple curettage without augmentation. Read More

Zhonghua Bing Li Xue Za Zhi 2009 Oct;38(10):673-7

Department of Pathology, 6th People's Hospital, Shanghai Jiaotong University, Shanghai 200233, China.

Objective: To explore the clinicopathologic features of Ollier's disease, its chondrosarcomatous transformation and related differential diagnoses.

Methods: A total of 19 cases of Ollier's disease and 8 control cases of pure multiple enchondroma were investigated by imaging studies including X-ray, CT or MRI, and hematoxylin and eosin stain.

Results: Among 19 cases of Ollier's disease, 12 were men and 7 were women with a mean age of 20 years (range, 5-66 years). Read More

Int J Pediatr Otorhinolaryngol 2009 Jul 24;73(7):1015-8. Epub 2009 Apr 24.

University of Cincinnati Academic Health Center, Department of Otolaryngology-Head and Neck Surgery, 231 Albert Sabin Way, Room 6407 MSB, P.O. Box 670528, Cincinnati, OH 45267-0528, USA.

Maffucci's syndrome is an uncommon congenital disease marked by multiple vascular malformations and enchondromas throughout the body. Otolaryngologic manifestations are relatively rare but potentially can cause symptoms such as respiratory distress and dysphagia if the lesions appear in the upper aerodigestive tract or larynx. We report a case of a young woman who demonstrated a wide range of head and neck pathology associated with this unique disease, including sphenoid enchondroma, bilateral petrous apex lesions, and rarely reported laryngeal and hypopharyngeal vascular malformations, over a period of nearly 20 years. Read More

Childs Nerv Syst 2009 Jun 27;25(6):647-53. Epub 2009 Mar 27.

Paediatric Neurosurgical Unit, Catholic University of Rome, Rome, Italy.

Background: Ollier disease is a rare, nonfamilial disorder characterized by multiple enchondromatosis with an asymmetric distribution and areas of dysplastic cartilage. Clinical manifestations usually start with local pain, bone swelling, and palpable bony masses, often associated with bone deformity. Intracranial enchondromas arise from the skull base because of its cartilage embryological derivation. Read More

Neurology 2008 Dec;71(24):2018

Service de Radiologie 2, Hôpital de Hautepierre, Avenue Molière, 67098 Strasbourg Cedex, France.

Singapore Med J 2008 Oct;49(10):841-5; quiz 846

Department of Diagnostic Radiology, Alexandra Hospital, 378 Alexandra Road, Singapore 159964.

A three-year-old girl presented with slow-growing swellings at the left foot and upper right humerus. Radiographs show multiple enchondromas in both feet, proximal humeri and scapulae, as well as at multiple sites in the hands, distal forearm bones and pelvis, in keeping with multiple enchondromatosis in Ollier disease. The clinical presentation and imaging features of enchondromas and the different types of enchondromatosis are discussed. Read More

J Med Case Rep 2008 Aug 11;2:263. Epub 2008 Aug 11.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

Introduction: A girl presented with achondroplasia manifested as mild knee pain associated with stiffness of her back. A skeletal survey showed enchondroma-like metaphyseal dysplasia and ossification of the spinal ligaments. Magnetic resonance imaging of the spine further clarified the pathological composites. Read More

J Neurooncol 2008 Aug 15;89(1):59-62. Epub 2008 Apr 15.

Medical Center of Central Georgia, 840 Pine Street, Macon, GA 31201, USA.

Introduction: Ollier Disease is a sporadic skeletal disorder with a predisposition to oncogenesis. It is estimated at around 1/100,000. We are presenting a young patient with Ollier Disease and high-grade astrocytoma. Read More

Acta Orthop Traumatol Turc 2007 Nov-Dec;41(5):380-6

Department of Orthopedics and Traumatology (Ortopedi ve Travmatoloji Kliniği), Istanbul Okmeydani Training and Research Hospital, Istanbul, Turkey.

Objectives: We evaluated patients who were treated with curettage and cementing for enchondromas localized in the distal femur.

Methods: The study included 13 patients (7 females, 6 males; mean age 54 years; range 43 to 65 years) who underwent surgery for enchondromatosis in the distal femur. Enchondromas were detected incidentally in 10 patients; of these, complaints of pain appeared afterwards in seven patients. Read More

Arkh Patol 2007 Sep-Oct;69(5):45-8

Chondromas combine a group of benign cartilaginous tissue tumors with common histological manifestations. The tumors (enchondroma, periosteal chondroma, and enchondromatosis) differ in sites and clinical manifestations. Chondromas are generally hypocellular, avascular tumors with an abundance of hyaline cartilage matrix and chondrocytes located diffusely, in clones or lobules. Read More

J Orthop Sci 2007 Sep 28;12(5):471-5. Epub 2007 Sep 28.

Department of Orthopaedic Surgery, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa, 920-8641, Japan.

Background: In this study, we addressed two questions on the treatment for Ollier's disease: (1) how much callus formation occurs when an osteotomy is performed intralesionally and (2) how is the stability of the wires and half-pins that are inserted intralesionally.

Methods: Four children with Ollier's disease underwent treatment of 12 lower limb segments using distraction osteogenesis until completion of their growth. All osteotomies were performed at the centers of the deformities, resulting in a total of seven osteotomies performed intralesionally. Read More

Neurocirugia (Astur) 2007 Jun;18(3):241-6

Servicios de Neurocirugía, Hospital General Yagüe, Burgos.

Introduction: Intracranial chondromas are extremely rare intracranial tumours that usually arise from the skull base synchondrosis. Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. Read More

Skeletal Radiol 2006 May 19;35(5):302-5. Epub 2006 Jan 19.

Department of Orthopedic Surgery, Fujita Health University, Toyoake City, Aichi, Japan.

We present a rare concurrence of enchondroma and periosteal chondroma in the right distal fibula that mimicked chondrosarcoma in a 13-year-old boy. Radiographs and CT scans showed a periosteal lesion producing saucerization without periosteal reaction and calcification in the distal metaphysis of the right fibula. MRI showed an intramedullary lesion adjacent to the periosteal lesion, although it was invisible at CT. Read More

Clin Rheumatol 2006 Feb 19;25(1):88-91. Epub 2005 Oct 19.

Rheumatology B Department, El Ayachi Hospital Rabat-Sale University Hospital, Sale, Morocco.

Maffucci's syndrome is a congenital nonhereditary syndrome characterized by a combination of enchondromatosis and hemangiomatosis. It is associated with an increased risk of malignancy. We report a case of a 24-year-old woman who developed severe bone distortion due to generalized enchondromas since the age of 2 years. Read More

Cir Cir 2005 May-Jun;73(3):217-21

Instituto Nacional de Cancerología, Omecihuatl 37, Col. Adolfo Ruiz Cortines, 04630 México, D.F., México.

Maffucci syndrome is a rare, congenital disease, which is associated with the appearance of multiple enchondromas (possibility of malignant transformation in 20 to 100%), soft tissue hemangiomas and other mesenchymatous injuries. Case 1 is a 33-year-old female who presented with multiple nodules predominantly in upper extremities. Upon examination, there was deformity in articulation and nodules on the hands, which were soft and moveable. Read More

Acta Orthop Traumatol Turc 2004 ;38(5):337-42

Department of Orthopedics and Traumatology (Ortopedi ve Travmatoloji Anabilim Dali), Medicine Faculty of Celal Bayar University, Manisa, Turkey.

Objectives: We evaluated the long-term results of treatment with curettage followed by an autograft or allograft application in patients with enchondroma of the hand.

Methods: Within a 15-year period, 76 patients (41 males, 35 females; mean age 32 years; range 14 to 47 years) were operated on for enchondroma of the hand. Following curettage of the lesion, reconstruction of the defect was made either by an autograft obtained from the iliac crest (n=76) or by a dehydrated cancellous allograft (n=15). Read More

Unfallchirurg 2002 Dec;105(12):1139-42

Abteilung für Unfallchirurgie,Hand- und Wiederherstellungschirurgie, Universität Ulm.

In contrast to solitary enchondroma,patients with multiple enchondromatosis of bone (Ollier's disease) get affected in childhood by bone swelling and growth retardation. In adults, the main problem is the risk of malign transformation up to 40%.Pain, increasing local tumor and thinning of the corticalis are the typical clinical and radiological signs of transformation to a low grade chondrosarcoma. Read More

Neuroradiology 2002 Mar;44(3):268-71

Department of Neurosurgery, Nordstadt Hospital, Hannover, Germany.

Long-term follow-up reports on chondroid lesions of the skull base are rarely presented in the literature. There are virtually no data on natural growth rates of these tumors based on MRI obtained over a period of 10 years or longer. We followed a patient who has had such a lesion for more than 12 years. Read More

Ear Nose Throat J 2001 Feb;80(2):75

Department of Radiology, Louisiana State University Health Science Center, New Orleans, USA.

Semin Musculoskelet Radiol 2000 ;4(1):59-71

Department of Radiology, National Naval Medical Center, Bethesda, Maryland 20889-5600, USA.

Enchondroma and chondrosarcoma are two of the most commonly encountered primary bone lesions in the typical radiology practice. The purpose of this article is to review the clinical, radiological, and pathological features that distinguish conventional chondrosarcoma from enchondroma. Chondrosarcoma is almost always associated with pain and tends to present in the axial skeleton of middle aged adults. Read More

Semin Musculoskelet Radiol 2000 ;4(1):45-58

Department of Radiology, University Hospitals of Cleveland, Case Western University School of Medicine, Ohio, USA.

Benign cartilage lesions discussed in this article include osteochondroma (solitary, epiphyseal, and multiple), chondroblastoma, periosteal chondroma, and chondromyxoid fibroma. These lesions often demonstrate imaging appearances strongly suggesting the above diagnosis, particularly the "ring and arc" mineralization characteristic of cartilage lesions, which reflects their underlying pathology. This article emphasizes the imaging spectrum of these lesions with a multimodality approach. Read More

Vasa 2000 Feb;29(1):71-3

Department of Plastic and Hand Surgery, University of Freiburg, Germany.

We describe a patient with the previously unseen combination of Maffucci's and Stewart Treves syndrome who presented with an angiosarcoma of the hand. Maffucci's syndrome is characterized by the presence of multiple enchondroma and soft tissue hemangioma. The syndrome is a rare nonhereditary condition with a usual onset in childhood. Read More

Praxis (Bern 1994) 1999 Sep;88(40):1624-6

Departement Medizinische Radiologie, Universitätsspital Zürich.

Skeletal Radiol 1998 Nov;27(11):625-32

Department of Pathology, Hospital for Joint Diseases, New York, NY 10003, USA.

Objective: To report 12 cases of chondrosarcoma in a rare location, the short tubular bones of the hands and feet, as well as 12 cases of enchondroma in similar locations, emphasizing the radiologic and histopathologic features.

Design And Patients: All relevant cases that had both histologic slides and radiographs available were taken from the files of one orthopedic referral hospital and the personal files of one of the authors. A similar number of enchondroma cases was selected at random from the files. Read More

Skeletal Radiol 1998 Jun;27(6):337-40

Department of Pathology, Faculty of Medicine, University of Tokyo, Japan.

A case of concurrent enchondroma and periosteal chondroma of the right proximal humerus in a 19-year-old woman is reported. Radiographs and CT scans showed a periosteal lesion with saucerization and spicula-like mineralization of the lateral aspect of the right proximal humerus and an ill-defined irregular lucency with stippled calcifications of the medullary cavity adjacent to it. MRI showed a long intramedullary lesion in addition to the surface lesion. Read More

Acta Neurochir (Wien) 1998 ;140(1):100-1

Department of Neurosurgery, Nara Medical University, Japan.

Skeletal Radiol 1997 Jun;26(6):325-53

Orthopaedic Oncology Service, Orthopaedic Hospital, Los Angeles, CA 90007, USA.

We reviewed 845 cases of benign and 356 cases of malignant cartilaginous tumors from a total of 3067 primary bone tumors in our database. Benign cartilaginous lesions are unique because the epiphyseal plate has been implicated in the etiology of osteochondroma, enchondroma (single or multiple), periosteal chondromas and chondroblastoma. In the first part of this paper, we will review important clinical, radiologic and histologic features of intramedullary cartilaginous lesions in an attempt to support theories related to anatomic considerations and pathogenesis. Read More

J Pediatr Orthop B 1997 Jan;6(1):15-9

Hospital de Crianças Maria Pia, Porto, Portugal.

We report two Portuguese sisters aged 9 and 12 years with symmetric well-circumscribed radiolucent cystic lesions on the long bone metaphysis of the hands and feet. The eldest also has soft tissue calcifications. They have no dysmorphic features and their growth is normal. Read More