Multiple enchondromatosis (Ollier Disease) is characterized by the presence of enchondromas predominantly affecting long and flat bones, and only exceptionally involving cranial bones. The aim of this study is to highlight the extreme rarity of bilateral hand involvement in Ollier disease, occurring simultaneously with other unusual localizations - such as the scapula - and exceedingly rare ones, such as the vomer bone. Furthermore, the study emphasizes the psychological impact of this pathology and the need for appropriate psychological and psychiatric support for affected patients. A systematic literature search was performed to identify English-language articles published between January 2015 and July 2025 concerning Ollier disease (enchondromatosis) with bilateral hand involvement in adult patients. The databases searched included PubMed, Scopus, and Google Scholar. The following search terms were used in various combinations: "Ollier disease," "enchondromatosis," "multiple enchondromas," "adult," "bilateral hands," "case report," "case series," and "chondrosarcoma." Inclusion and exclusion criteria were defined, and data were systematically recorded. In addition, we report a case of Ollier disease in a young male patient presenting with multiple rare bone lesions along with numerous comorbidities. The review confirms the exceptional rarity of cases involving both hands, with only five such reports identified in the analyzed literature. No cases of malignant transformation were reported in the studies included in this review. Ollier disease is a severe, debilitating pathology with limited therapeutic options and a significant risk of malignant transformation.

First described by Ollier in 1899, Ollier disease is a rare, nonhereditary skeletal condition characterized by multiple enchondromas. Enchondromatosis can present bilaterally, often with a predominant side, and may manifest as monomelic or hemiskeletal involvement. Significant clinical challenges in Ollier disease include progressive limb shortening, angular deformities, and an elevated risk of pathologic fractures. In adult patients, malignant transformation is a potential concern. Calvarial involvement in Ollier disease is exceedingly rare, with only a few documented cases. Most reported instances of calvarial involvement pertain to the skull base rather than the calvarial bones. Herein, we present a case of Ollier disease with multifocal enchondromas, including involvement of the calvarium, identified through whole-body bone scintigraphy.

Malignant tumors of the pediatric hand and wrist are rare. We hypothesize that pain, large size, and palm/wrist location are risk factors for malignancy in children. A retrospective review was conducted of patients younger than 18.9 years of age presenting to our institution with hand and wrist tumors or tumor-like lesions over a 15-year period. Patients with skin lesions, commonly encountered subcutaneous masses (lipomas, ganglion cysts, and sebaceous cysts), multiple hereditary exostoses, and Ollier disease were excluded. Data collection included demographics, clinical presentation, imaging features, and surgical management. Risk factors for malignancy were determined using receiver operating characteristic and descriptive statistical analysis. Three hundred twenty-seven tumors and tumor-like lesions were identified in 312 patients, with a mean age of 10.1 ± 4.6 years. Three hundred fifteen (96.3%) lesions were benign, and 12 (3.7%) lesions were malignant. The most common benign bone tumors were osteochondromas (75/160, 46.9%) and enchondromas (50/160, 31.3%), while the most common benign soft-tissue masses were vascular malformations (39/155, 25.2%) and giant cell tumors of the tendon sheath (30/155, 19.3%). The most common location was the digit. All malignant tumors (3 bone, 9 soft tissue) were in either the palm or wrist. Epithelioid sarcoma (4/9) and synovial sarcoma (2/9) were the most common soft-tissue malignancies, and osteosarcoma (3/3) was the only identified malignant bone tumor. Overall, the most common presenting complaints were swelling (63%) and pain (19.9%). Bivariate analysis found size >11.4 mm and palm/wrist location as risk factors for malignancy. Based on ROC analysis, age and pain ratings were poor predictors of malignancy. Among bone tumors, an aggressive zone of transition, periosteal reaction, and cortical destruction were significant radiographic risk factors for malignancy. The most common tumors and tumor-like conditions of the pediatric hand and wrist include osteochondromas, enchondromas, vascular malformations, and giant cell tumors of the tendon sheath. Larger tumors (>11.4 mm) and lesions found in the palm/wrist are more likely to represent malignancies and should be approached with caution. Level III-therapeutic.

Enchondromatosis secondary to Ollier disease (OD) is rare, with secondary chondrosarcomas (CS) accounting for only 1% of malignant osseous tumours. This is one of only two reports documenting four enchondromas of different bones of the same hand developing malignant transformation, with long-term follow-up. This is a 72-year-old female with histologically proven CS from multiple enchondromas of the index finger metacarpal and proximal phalanx, and middle finger proximal and middle phalanges. Six years following curettage and bone grafting, she showed no recurrence or metastases from CS. While CS of the hand behaves aggressively, they rarely metastasise and show good 5-year survival rates. Due to good prognosis, function-sparing surgical options are acceptable over amputation, accompanied by close surveillance. Level of Evidence: Level V (Therapeutic).

The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for health care professionals. The 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection and intervention and reduce morbidity associated with such neoplasms. In this article, we review several of the rare conditions discussed in this workshop. Ollier disease and Maffucci syndrome are enchondromatoses (disorders featuring benign bone lesions) with up to 50% risk of malignancy, including chondrosarcoma. These patients require surveillance with baseline whole-body MRI and routine monitoring of potential malignant transformation of bony lesions. Hereditary multiple osteochondromas carry a lower risk of chondrosarcoma (<6%) but still require lifelong surveillance and baseline imaging. Related syndromes of benign bone lesions are also described. Hereditary leiomyomatosis and renal cell carcinoma syndrome, associated with fumarate hydratase pathogenic variants, is discussed in detail. Surveillance for renal cell carcinoma in pediatric age is recommended, as well as prompt intervention when a lesion is detected. Schinzel-Giedion syndrome and Rubinstein-Taybi syndrome are described for their associated malignancies and other complications, as well as expert consensus on the need for childhood cancer surveillance. Clinical recommendations, including imaging modalities and frequency of screenings, are proposed and are tailored to each syndrome's age-specific tumor risk profile. In all syndromes, patients and their families should be educated about the potential malignancy risk and advised to seek medical care for rapid growth of a mass, persistent pain, or other unexplained symptoms.