Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.

Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome.

BACKGROUND: Maffucci syndrome (MS) and Ollier disease (OD) are rare diseases characterized by multiple benign enchondromas. The incidence of skull base (SB) enchondromas and the risk of malignant transformation remain unknown. Most SB lesions are asymptomatic, and surgical resection carries significant morbidity. Observation may be a reasonable strategy. We report our experience with observation of probable SB enchondromas in MS/OD patients. METHODS: Retrospective review of OD/MS patients with cranial imaging between 1995 and 2018 at 1 institution. RESULTS: 14 patients were included: 3 with MS (21.4%) and 11 with OD (78.6%). The median age was 28 years (range, 11-74 years) and 57.1% were female. Extracranial chondrosarcoma was reported in 3 (21.4%) patients. Seven (50%) patients with SB enchondroma or chondrosarcoma were identified on initial imaging. In patients with SB lesions, the indications for imaging were headache (n=3), seizure (n=1), and diplopia (n=1); 2 cases were incidental findings. The most commonly involved structures were petroclival fissure (86%) and clivus (71%). Treatment included observation (6/7) and resection (1/7). Follow-up imaging was available for all SB lesions, with a mean interval of 50.7 months (range, 5-225 months) and was negative for progression in all patients. CONCLUSIONS: Primary SB lesions in OD/MS patients frequently present in the petroclival junction. Cranial screening and close observation should be considered in MS/OD patients, given the increased risk of intra-axial intracranial tumors, de novo chondrosarcomas, or malignant degeneration of previously known lesions. In asymptomatic patients, observation appears to be a safe strategy in this cohort. Further case accumulation and follow-up are required to better understand the long-term outcomes.

Management of tumors and tumor-like lesions of the hand: a review of 191 patients.

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. Patients with only intraosseous ganglion cysts were included in the study. RESULTS: The most common lesion was enchondroma (n=59, 30.89%). A giant-cell tumor of the tendon sheath was the most common benign soft tissue tumor (n=30, 15.70%). Alveolar rhabdomyosarcoma was the most frequent malignant soft tissue lesion (n=5, 2.61%). The most common non-metastatic malignant lesions of the bone were chondrosarcomas (n=6, 3.14%). Of the patients with chondrosarcoma, two were diagnosed with primary lesions, and four were diagnosed with chondrosarcoma when benign cartilaginous lesions underwent malignant transformation during follow-up. Metastases to the hand were seen in six patients. CONCLUSION: The incidence of benign tumors of the hand is higher than malignant tumors. Since hand tumors may affect several parts of the body, diagnosis and treatment are best provided through a multidisciplinary approach.

A case of Maffucci syndrome.

The Maffucci syndrome consists of a combination of multiple enchondromas and haemangiomas. It appears in the first two decades of life, with no family history. In this case we are reporting about a 26-year-old female who had suffered from multiple enchondromas since the age of two. At the age of nine, the patient presented with additional haemangiomas, which facilitated making proper diagnosis. She now presents with a massive lesion of her left upper extremity. The patient had initially rejected operative treatment when the disease was at early stages. At later stages, a more complex reconstruction of the hand would have been necessary to secure hand function. This procedure that sometimes induces a risk related to potential necessity of blood transfusion was rejected by the patient for religious reasons. Amputation of the extremity was therefore the last resort procedure.

Síndrome de Maffucci / Maffucci's Syndrome

El síndrome de Maffucci se caracteriza por ser una displasia mesodérmica en la que se presentan de forma simultánea lesiones vasculares subcutáneas (fundamentalmente hemangiomas) y encondromas. Los encondromas son tumores óseos caracterizados por la persistencia de cartílago en las metáfisis y diáfisis de los mismos. En líneas generales provocan deformidad y acortamiento del miembro afecto debido a la expansión del cartílago en el interior del hueso. Los hemangiomas son lesiones vasculares profundas que histológicamente corresponden a hemangiomas de células fusiformes. A propósito de una enferma de 26 años con múltiples lesiones vasculares (hemangiomas) y óseas (encondromas) típicas de síndrome de Maffucci revisamos las características clínicas, histológicas, epidemiológicas y asociativas del proceso (AU)

Juvenile granulosa cell tumor in a 13-year-old girl with enchondromatosis (Ollier's disease): a case report.

Juvenile granulosa cell tumor (JGCT) of the ovary has been reported to occur rarely in conjunction with Ollier's disease. We report a case of a 13-year-old girl who was noted to have a large abdominal mass at the time of excision of a symptomatic enchondroma of the right femur. Subsequent laparotomy at a tertiary care children's medical center identified a JGCT confined to the right ovary. Review of the literature reveals eight previous cases of JGCT in patients with Ollier's disease. The pathophysiology and possible common causes of both disorders is discussed.

Maffucci's syndrome (hemangiomatosis osteolytica): a report of four cases.

Maffucci's syndrome is a congenital nonfamilial syndrome combining dyschondroplasia, (enchondromatosis) and hemangiomatosis. It is a rare disease; only 200 cases have been reported throughout the world in the past 140 years. Over the past 20 years, four patients have been admitted with signs and symptoms consistent with Maffucci's syndrome. Three were children ages 3, 7, and 9 years. The fourth was 23 years old. Two were male and two female. All had hemangiomas at birth, and all had skeletal deformities and enchondromas. All complained of pain and heaviness of the involved extremity. Three patients had the arterial inflow evaluated with arteriograms, and one had magnetic resonance imaging. Two also had venograms. Two patients had excision of their hemangiomas, and one had sclerotherapy and compression therapy. All had bone biopsies performed. None of the enchondromas or the soft tissue lesions had undergone sarcomatous transformation.

[Tibial dyschondroplasia in broiler chickens]. / Tibiadyschondroplasi (TD) hos slagtekyllinger.

After the general description of tibial dyschondroplasia (TD) an account is given on observations of the incidence of this leg abnormality in the Danish broiler production. Comparative investigations concerning the frequency of TD in three commercial strains of broiler chickens (A, B & C) is described. The possible effect of the diet, with reference to frequency--particularly calcium and phosphorus levels--is studied. Chickens from each strain were divided into two equal groups; one was fed an ordinary broiler chicken diet (X), and the other was given feed (Y) originally composed for replacement pullets. The frequency of TD was 22 percent in broiler chickens from the commercial production. Irrespective of composition of the feed, almost the same incidence was recorded in both groups of one of the strains (A), while the frequency of TD in strains B & C was significantly lower on both diets. In relation to available observations and results, influence on incidence of genetic factors and certain feed ingredients is discussed. It is concluded that the TD-frequency is relatively high in the strain which dominates the Danish broiler production. This seems to be primarily determined by genetic factors, whereas in this experiment the levels of calcium, phosphorous and other feed ingredients have minor influence.