New bone formation accelerates during lower limb lengthening and deformity correction in children with Ollier's disease.

BACKGROUND: Ollier's disease can cause severe length discrepancy of the lower extremities and deformity in children. Osteotomy and limb lengthening with external fixation can correct the limb deformity. This study evaluated (1) whether the duration of external fixation was reduced in patients with Ollier's disease, and (2) the incidence of complications such as pin tract infection, external fixation loosening, and joint stiffness. METHODS: Two groups were compared with respect to age, angular correction (AC), lengthening gap (LG), distraction index (DI), lengthening length (LL), lengthening length percentage (L%), lengthening index (LI), bone healing index (BHI), and external fixation index (EFI). Group 1 (Ollier's disease) comprised nine patients undergoing 11 lower limb lengthening procedures using external fixators; group 2 (control, normal lengthened bone) comprised 28 patients undergoing 29 lengthening procedures with external fixators. RESULTS: In patients with Ollier's disease, full correction of the deformity and full restoration of length were achieved in all cases. In the femur, the mean AC (15.97° vs. 6.72°) and DI (1.11 mm/day vs. 0.78 mm/day) were significantly larger, while the LI (9.71 days/cm vs. 13.49 days/cm), BHI (27.00 days/cm vs. 42.09 days/cm), and EFI (37.86 days/cm vs. 56.97 days/cm) were all significantly shorter in group 1 than in group 2 (p < 0.05). In the tibia, the mean AC and L% were larger, while the LG, LI, BHI, and EFI were all shorter in group 1 than in group 2. There was no significant difference between the two groups in the incidence of complications. CONCLUSION: In children with Ollier's disease, new bone formation accelerated and the healing speed of the lengthened segments was faster throughout the whole lengthening period with external fixation, and full correction of the deformity and full restoration of length could be achieved.

Impact of Patient and Tumor Characteristics on Range of Motion and Recurrence Following Treatment of Enchondromas of the Hand.

PURPOSE: The approach to the treatment of enchondromas of the hand is varied, and there is no clear consensus on graft source, fixation, or need for intraoperative adjuvant therapy. We reviewed a cohort of patients who underwent curettage and bone grafting with cancellous allograft chips without internal fixation or adjuvant therapy and reported on postoperative range of motion (ROM) and recurrence rates. METHODS: We performed a retrospective review of patients who underwent surgical treatment for hand enchondroma over a 23-year period. We collected information on demographics and presenting enchondroma characteristics, including Takigawa classification and presence of pathologic fracture or associated syndromes. Patients were treated with open biopsy with curettage and grafting with cancellous allograft chips. Postoperative ROM, complications, and recurrences were recorded. RESULTS: Our series included 111 enchondromas in 104 patients. Seventeen of 104 patients (16%) had a diagnosis of Ollier disease. Average length of follow-up was 3.1 years. Eighty-one percent of patients achieved full ROM. Treatment of patients who presented with preoperative pathologic fracture resulted in a greater frequency of reduced postoperative ROM at 28% (9/32) compared to 15% (11/72) of those patients who did not present with preoperative pathologic fracture. Local recurrence developed in 5 of 50 (10%) patients with a minimum of 2 years of follow-up. Local recurrence occurred at higher-than-average rates in patients with giant form Takigawa classification (43%, 3/7) and Ollier disease (23%, 3/13). CONCLUSIONS: Treatment of enchondromas with biopsy, curettage, and allograft results in full ROM in 81% of patients. Patients with preoperative pathologic fracture should be advised of a greater risk of postoperative extension deficit. Recurrence remains rare and is associated with syndromic presentation and giant form lesions. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Outcomes of intralesional osteotomy and distraction osteogenesis for limb length equalization in Ollier's disease.

Limb length discrepancy and deformities resulting from Ollier's disease are challenging to treat and have increased complications. We aimed to assess the safety of intralesional osteotomy for distraction osteogenesis and report the results of guided growth as a method of deformity correction in such conditions. We retrospectively reviewed 13 patients (eight boys and five girls), 28 segments (12 femora and 16 tibias), treated using Ilizarov circular ring fixator in one center. Nine patients had an oblique plane deformity, whereas four had a coronal plane deformity. Femoral shortening ranged from three to 11 cm. Tibial shortening ranged from 3.5 to 12 cm. Intralesional osteotomy was carried out in all patients, and guided growth (hemiepiphysiodesis) was used in seven segments (25%). The median age was 11 years (6-14 years) at surgery, with a median follow-up of 4.5 years (3-18 years). The median achieved lengthening in the femur was 7 cm (5-11 cm) and in the tibia was 5 cm (3-9 cm). The average Bone Healing Index (BHI) for the femur was 32 days/cm (28-38 days/cm), and for the tibia was 36 days/cm (28-40 days/cm). Before frame removal, the mechanical axis was restored to the knee joint center in all cases. Normal radiographic bone regeneration was evident in all cases. Hemiepiphysiodesis successfully corrected the angular deformities. Intralesional osteotomy for distraction osteogenesis is well-tolerated and reliable in Ollier's disease. Radiological normal bone was formed at the distraction site. Guided growth is also a reproducible method for deformity correction in Ollier's disease, similar to other conditions.

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

BACKGROUND: Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment. CASE PRESENTATION: We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA. CONCLUSIONS: This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.

Rare Presentation of Pediatric Multiple Enchondromatosis Limited to Single Ray or Single Nerve Distribution in the Hand: A Multicenter Case Series.

BACKGROUND: Multiple enchondromas in the pediatric hand is a relatively rare occurrence and the literature regarding its incidence and treatment is sparse. Within this rare subset of patients, we identified a unique cohort in which lesions are confined to multiple bones in a single ray or adjacent rays within a single nerve distribution. We review the clinical and pathologic characteristics and describe the indications for and outcomes of treatment in this unique subset of patients as well as offer conjectures about its occurrence. METHODS: Institutional review board (IRB)-approved retrospective multicenter study between 2010 and 2018 identified subjects with isolated multiple enchondromas and minimum 2-year follow-up. Data analyzed included demographics, lesion quantification and localization, symptoms and/or fracture(s), treatment of lesion(s), complications, recurrence, and presence of malignant transformation. RESULTS: Ten patients were evaluated with average age at presentation of 9 years (range: 4 to 16) and mean clinical follow-up of 6 years (range: 2.8 to 8.6). Five subjects had multiple ray involvement in a single nerve distribution and 5 had single ray involvement with an average of 4 lesions noted per subject (range: 2 to 8). All children in the study had histopathologic-proven enchondromas and underwent operative curettage±bone grafting. Indications for surgical intervention included persistent pain, multiple prior pathologic fractures, impending fracture and deformity. During the study period three subjects experienced pathologic fracture treated successfully with immobilization. Recurrence was noted in 40% at an average of 105 weeks postoperatively (range: 24 to 260) and appears higher than that reported in the literature. No case of malignant transformation was observed during the study period. CONCLUSIONS: A rare subset of pediatric patients with multiple enchondromas of the hand is described with lesions limited to a single ray or single nerve distribution. Further awareness of this unique subset of patients may increase our understanding of the disease and improve patient outcomes. LEVEL OF EVIDENCE: Level IV-therapeutic (case series).

Clinical differences between central and peripheral chondrosarcomas.

AIMS: Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central or peripheral. Most studies group central and peripheral chondrosarcomas together, although there is growing evidence that their clinical behaviour and prognosis differ. The aims of this study were to analyze any differences in characteristics between central and peripheral chondrosarcomas and to investigate the incidence and role of different syndromes. METHODS: Data from two international tertiary referral sarcoma centres between January 1995 and December 2018 were retrospectively reviewed. The study population consisted of 714 patients with surgically treated conventional chondrosarcoma of the pelvis and limbs. RESULTS: In patients with Ollier's disease and Mafucci's syndrome, 12/20 (60%) and 2/5 (60%) of malignancies, respectively, were in the limbs, most frequently in the proximal humerus, proximal tibia, and in the hands and feet. In patients with hereditary multiple exostosis (HME), 20/29 (69.0%) of chondrosarcomas were in the pelvis and scapula, specifically in the ilium in 13/29 (44.8%) and the scapula in 3/29 (10.3%). In central chondrosarcoma, survival of patients with Ollier's disease and non-syndromic patients was the same (p = 0.805). In peripheral chondrosarcoma, survival among HME patients was similar (p = 0.676) in patients with tumours of the pelvis and limbs. CONCLUSION: Both central and peripheral chondrosarcoma have specific characteristics. HME is frequently seen in patients with a peripheral chondrosarcoma, in whom tumours are commonly located in the ilium and scapula. The incidence of Ollier's disease is uncommon in patients with a central chondrosarcoma. Disease-specific survival is equal in different subtypes after adjustment for histological grade. The local recurrence-free survival is the same for different locations and subtypes after adjustment for surgical margin. Cite this article: Bone Joint J 2021;103-B(5):984-990.

Surgical Management of Multifocal Chondrosarcoma in Ollier Disease.

Ollier disease is a rare congenital disease in which multiple enchondromas occur. The tumors can transform to malignant chondrosarcomas of various histologic grades. The patient we described has been treated in our orthopedic department six times, always being referred on account of new lesions. The tumors were excised with margins of healthy tissue. Each tumor was subjected to a histological examination to determine its type and grade. Chondroid tumors should be diagnosed carefully, because the treatment depends on their histologic features. If surgery is performed, removal of the tumor with a margin of healthy tissue is crucial for the patient's well-being and good prognosis.

Doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado asociado a síndrome de Maffucci / Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome

Resumen: El síndrome de Maffucci se caracteriza por la presencia de múltiples encondromas y hemangiomas que pueden afectar tejidos blandos y otros órganos. El riesgo de transformación maligna de las lesiones es de 100% durante la vida del individuo, siendo el condrosarcoma el tumor maligno más frecuentemente asociado. Se presenta el caso de un hombre de 44 años de edad con diagnóstico de síndrome de Maffucci, el cual desarrolló un doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado multicéntrico de región escapular y tricipital, fue tratado con desarticulación interescapulotorácica, mostró progresión acelerada y enfermedad pulmonar. Existen otras neoplasias asociadas al síndrome de Maffucci tales como adenocarcinoma de páncreas, tumores mesenquimales de ovario, gliomas, astrocitomas y tumores de la pituitaria. Por lo que resulta muy interesante reportar la asociación infrecuente entre un sarcoma fusocelular y un condrosarcoma secundario en pacientes con síndrome de Maffucci. El seguimiento en este grupo de pacientes es complejo y se basa en la búsqueda intencionada de lesiones con crecimiento acelerado, prestando atención en lesiones de crecimiento progresivo, síntomas clínicos o datos radiológicos de malignidad.

Abstract: Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.

Juvenile granulosa cell tumor associated with Maffucci syndrome in pregnancy: A case report.

Juvenile granulosa cell tumor (JGCT) is an extremely rare ovarian tumor that has been associated with Maffucci syndrome. It both secretes hormone and has been postulated to grow in response to hormone. We present a case of a 33-year-old G1P0 asymptomatic woman with a history of Maffucci syndrome found to have a left adnexal mass on routine ultrasonography at 13 weeks gestation. This case demonstrates the sonographic and magnetic resonance imaging (MRI) features of JGCT, as well as the natural progression of the tumor during pregnancy. A follow-up ultrasound 3 weeks after initial diagnosis demonstrated marked growth in size and vascularity of the tumor, prompting unilateral salpingo-oophorectomy. Histopathological findings confirmed the diagnosis of JGCT.

Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review.

BACKGROUND: Ollier disease (OD) is a rare, nonhereditary bone disease that is characterized by the presence of multiple enchondromatosis (3 or more) with a typical asymmetric distribution which is mainly confined to the appendicular skeleton. OD's most serious complication is the transformation of an enchondroma into chondrosarcoma. The most common sites for chondrosarcoma are in the pelvic and shoulder bones, the superior metaphyseal and diaphyseal regions of the extremities. However, the cranium is an extremely rare site for chondrosarcoma because of OD. CASE DESCRIPTION: We report the case of a 27-year-old woman who was admitted to our hospital with paroxysmal headaches over 1 month and left ptosis for 2 weeks. Magnetic resonance imaging (MRI) scan revealed a mass was located at the left side of the parasellar area. The mass was surgically removed, and histopathologic examination confirmed chondrosarcoma grade I. During follow-up, more imaging examinations and pathologic examination confirmed the final diagnosis was OD. CONCLUSIONS: Intracranial chondrosarcoma caused by OD is extremely rare but should be considered in the differential diagnosis when primary chondrosarcoma is diagnosed. Preoperative diagnosis is challenging, and definitive diagnosis requires immunohistochemical examination and systematic examination of the body. Surgical resection is the most effective therapy for rapid relief of symptoms. For patients with OD with normal intracranial MRI, long-term follow-up is necessary.

[Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome]. / Doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado asociado a síndrome de Maffucci.

Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.

El síndrome de Maffucci se caracteriza por la presencia de múltiples encondromas y hemangiomas que pueden afectar tejidos blandos y otros órganos. El riesgo de transformación maligna de las lesiones es de 100% durante la vida del individuo, siendo el condrosarcoma el tumor maligno más frecuentemente asociado. Se presenta el caso de un hombre de 44 años de edad con diagnóstico de síndrome de Maffucci, el cual desarrolló un doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado multicéntrico de región escapular y tricipital, fue tratado con desarticulación interescapulotorácica, mostró progresión acelerada y enfermedad pulmonar. Existen otras neoplasias asociadas al síndrome de Maffucci tales como adenocarcinoma de páncreas, tumores mesenquimales de ovario, gliomas, astrocitomas y tumores de la pituitaria. Por lo que resulta muy interesante reportar la asociación infrecuente entre un sarcoma fusocelular y un condrosarcoma secundario en pacientes con síndrome de Maffucci. El seguimiento en este grupo de pacientes es complejo y se basa en la búsqueda intencionada de lesiones con crecimiento acelerado, prestando atención en lesiones de crecimiento progresivo, síntomas clínicos o datos radiológicos de malignidad.

Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. In this article, the authors report on a male patient with MS, harboring three CNS tumors that share a common genetic alteration. Over a 9-year period, three separate tumor resections were conducted for sellar, intraparenchymal brainstem, and osseous clival tumors. The histopathological diagnoses were pituitary adenoma, diffuse astrocytoma, and chondrosarcoma, respectively. Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA. Administering chemotherapy (nimustine) and subsequent radiation therapy to the brainstem glioma and the residual lesion in the clivus have kept the patient progression free for 18 months. This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. The findings support the hypothesis that in MS and OD, a single common IDH1 mutation triggers tumorigenesis in cells of different origins and locations in a somatic mosaic fashion.

Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report.

CASE: A 29-year-old man with mild hemophilia A and Ollier disease presented with bilateral atraumatic forearm pseudotumors. Both forearm pseudotumors were successfully treated surgically with staged radical extirpation and factor VIII replacement therapy. CONCLUSION: Pseudotumors typically occur in adolescents with severe, poorly controlled hemophilia A. The development of factor VIII replacement therapy has progressively reduced the incidence of pseudotumors in patients in the developed world. No standardized therapy exists for pseudotumors that continue to bleed into the muscles despite nonoperative measures. Persistent masses require surgical removal with careful preoperative planning and a team approach.

Chondrosarcomas of the phalanges of the hand.

OBJECTIVES: This study aims to evaluate the diagnosis and treatment approaches of the rarely seen chondrosarcomas of the phalanges of the hand. PATIENTS AND METHODS: Fifty-two patients (27 males, 25 females; mean age 41.2 years; range 12 to 70 years) with chondroid lesions localized in hand phalanges who were performed surgical treatment between December 2012 and September 2016 were retrospectively reviewed. The study included 62 phalangeal chondroid lesions. Patients' mean follow-up duration was 60.6 months (range 13 to 165 months). Incisional biopsy was performed for the diagnosis. One patient with bilateral and multiple involvement was performed tru-cut biopsy. Phalangeal chondrosarcoma was diagnosed in five patients (9.6%). RESULTS: Of the chondroid lesions, 37 were localized in proximal phalanges (59.6%), 16 in midphalanges (25.8%), and nine in distal phalanges (14.6%). Chondrosarcoma was detected in 15 phalanges of five patients. Of the two patients with Ollier disease, localization was detected in nine phalanges (four proximal, two mid, three distal phalanges) of one patient and in three phalanges (one proximal, two midphalanges) of the other patient. None of the patients had distant metastasis on diagnosis. Ray amputation was performed in two patients under general anesthesia and amputation was performed in one patient. One patient did not give consent for operation. The other patient with Ollier disease gave consent for amputation of only one finger. No local recurrence was seen. CONCLUSION: The hand localization of chondrosarcomas is rare with scarce information in the literature. Their metastasis potential is low but local recurrence rates are high after insufficient surgery. Amputation or ray amputation is the applicable treatment.

Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease.

PURPOSE: The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood. METHODS: A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume. The range of finger motion (pulp-to-palm distance), the shortened Disabilities of the Arm, Shoulder, and Hand (QuickDASH) questionnaire score, cosmetic improvement, radiological findings (according to Tordai's classification), and recurrence were recorded after a mean follow-up of 7.5 years (range, 4-11.3 years). RESULTS: The mean age at surgery was 10.7 years (range, 6-14 years). Curettage was performed on 35 enchondromas, and 9 cavities were filled with a bone graft. The mean pulp-to-palm distance was significantly lower after surgery (from 1.5 cm to 0.25 cm; P < .05). The mean QuickDASH score was 3.84 (range, 0-11.4). A marked cosmetic improvement was noted for 83% of the hands. Three enchondromas recurred in 1 patient, requiring a second curettage. Fifty-seven percent of the cavities were completely filled with bone (Tordai stage 1) at last follow-up. The outcome did not depend on the presence or absence of a bone graft. CONCLUSIONS: Our results suggest that early surgical treatment comprising curettage and corticoplasty leads to good clinical, cosmetic, and radiological outcomes. Early surgical treatment of well-developed and/or symptomatic enchondromas of the hand in OD should be considered. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.

BACKGROUND: Multiple enchodromatosis of bone, termed Ollier's disease, or Maffucci syndrome when associated with hemangiomas, is a rare disease that can affect the pediatric hand. This condition often causes a finger mass, deformity, pain and possible pathologic fractures, and has been associated with malignant transformation to chondrosarcoma. The aim of our study is to describe the long-term sequela of multiple enchondromatosis of the hand in the pediatric population, specifically the rates of malignant transformation, tumor recurrence, rates of pathologic fracture, and phalangeal growth arrest. METHODS: We examined 15 pediatric patients who were treated in our institute with a total of 127 phalanges and metacarpals lesions. Only patients with follow-up of at least 4 years were included. We retrospectively reviewed patients' chart and hand radiograph for symptoms including pathologic fractures, indications for surgery, and postoperative complications including tumor recurrence, and malignant transformation. We assessed phalangeal growth arrest with radiographs and normalized phalangeal growth charts. RESULTS: Mean age of diagnosis was 5.8 years and mean follow-up time was 15.4 years. Pathologic fractures were common at 46% of pediatric patients, but ceased to occur once reaching adulthood. Outcomes of pathologic fractures were excellent, regardless of treatment. Malignant transformation occurred in 1 patient and did not occur during childhood. A total of 80% of patients and 29% of lesions underwent surgical treatment of curettage and bone graft for the lesion, yet recurrence was common and affected 33% of treated patients. Phalangeal growth arrest was the most common long-term sequela and affected 11% of phalanxes and metacarpals. This sequela was significantly more prevalent in patients who had surgical excision of the tumor. CONCLUSIONS: Our findings reassure that malignant transformation of enchodromatosis of the hand is unlikely in the pediatric population. Pathologic fracture is common, but has excellent outcomes. When considering surgery, parents should be counseled about the possibility of phalangeal growth arrest and recurrence of the lesion. TYPE OF STUDY/LEVEL OF EVIDENCE: Level IV-therapeutic.

Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.

Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical, radiological, and biochemical assessments were performed. Genotypic studies used standard Sanger sequencing in conjunction with a target-specific peptide nucleic acid to detect IDH1 mutations in tumor tissues. DNA sequencing demonstrated identical IDH1 mutations (c.394C > T) in both tumors. To the authors' knowledge, this report provides the first genetic evidence for the inclusion of pituitary adenomas among tumors characterizing Maffucci syndrome. In patients who are newly diagnosed with Maffucci syndrome, it is appropriate to monitor for development of pituitary pathology and neuroendocrine dysfunction.

Patient Satisfaction After Limb Lengthening With Internal and External Devices.

External fixation has long been used for limb lengthening but can result in many complications, such as tethering of the soft tissues, pain, decreased joint motion, scarring, and nerve injury. Recently, a controllable, telescopic, internal lengthening nail was developed to address many of these issues and hopefully improve the overall experience for the patient. The satisfaction rates of internal and external fixation for limb lengthening were compared in 16 patients, all of whom have experienced both methods. Thirteen out of 16 patients responded to a limb-lengthening questionnaire, developed by the authors for this patient population. Patients preferred the internal device with respect to overall satisfaction, reduced pain, ease of physical therapy, and better cosmetic appearance. When asked which device they would prefer if another surgery was required, all patients chose the internal device. From the patients' perspective, the internal lengthening device is an improvement over the traditional external fixator.