-
Anthropologischer Anzeiger; Bericht... Mar 2023This work presents the neoplastic bone changes found in the lower limb of a medieval skeleton from the church of Sant' Agostino in Caravate (Northern Italy). After...
This work presents the neoplastic bone changes found in the lower limb of a medieval skeleton from the church of Sant' Agostino in Caravate (Northern Italy). After briefly assessing the individual's overall pathological picture, a differential diagnosis for the neoplastic changes is now proposed. These changes were analysed macroscopically and radiographically and subsequently evaluated considering the paleopathological and clinical literature available. The differential diagnosis allowed us to recognize a tibiofibular osteochondroma and some enchondromas in the medullary cavity of the tibia. The results presented here highlight the importance of radiological analyses in the recognition and study of bone neoplasms in the paleopathological field, further contributing to our knowledge of the presence of neoplasms in Medieval Northern Italy.
Topics: Humans; Enchondromatosis; Bone and Bones; Bone Neoplasms; Osteochondroma; Tibia; Italy
PubMed: 36156059
DOI: 10.1127/anthranz/2022/1600 -
Radiology Case Reports Oct 2022Maffucci syndrome is a non-hereditary congenital condition that affects the skin and skeleton. Enchondromas (benign cartilage enlargements), bone abnormalities, and...
Maffucci syndrome is a non-hereditary congenital condition that affects the skin and skeleton. Enchondromas (benign cartilage enlargements), bone abnormalities, and venous anomalies (hemangiomas) are all symptoms. Enchondromas occur as a result of mesodermal dysplasia and have the potential to become cancerous. They are most commonly found on the phalanges and long bones. Venous abnormalities commonly manifest themselves as soft lumps or tumors on the distal extremities. A 19-year-old boy presented with swellings on his fingers and left foot since the age of 5, along with a few bluish soft tissue swellings on his left heel. Multiple expansile lytic lesions and soft tissue swellings with phleboliths were seen on X-ray. Histology confirmed the diagnosis of hemangiomas and enchondromas. Soft tissue swellings were found to have hyper echoic areas, as well as modest marginal blood flow on Doppler, which could indicate hemangiomas. Maffucci syndrome was identified, and treatment with a multidisciplinary approach was initiated. Maffucci syndrome is a rare genetic illness reported in the literature less than 200 times. The enchondromas and hemangiomas have a strong link to malignant changes, with chondrosarcomas accounting for 30% of the associated malignancies. On X-ray, enchondromas are easily identified as osteolytic lesions with cortex thinning and endosteal scalloping while color Doppler ultrasound detects the presence of hemangiomas. Phleboliths are easily identified as small calcifications on X-rays. Radiographic examinations should be considered in patients presenting with bone or soft tissue swellings for an early diagnosis of Maffucci syndrome.
PubMed: 35936883
DOI: 10.1016/j.radcr.2022.07.008 -
Pediatric Rheumatology Online Journal Jul 2022Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be...
BACKGROUND
Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a sign of local distress (e.g. of toxic origin), but is very often a sign of a constitutional or systemic acquired disorder.
CASE PRESENTATION
A 15-year-old girl was referred to a paediatric rheumatologist for recurrent pain in her fingertips. She presented a particular cross-sectional AO associated with the presence of intraosseous cysts and bone fragility with atypical fractures. Initial laboratory tests and radiological examination did not allow an etiological diagnosis. Genetic studies revealed a 12p11.22-p11.23 microduplication of 900 kb including the PTHLH (parathyroid hormone-like hormone) gene, which encodes for a hormone involved in the regulation of endochondral ossification and differentiation of chondrocytes, via its PTHLH receptor.
CONCLUSIONS
To date, 12p11.22-p11.23 duplications have been reported in five families with skeletal abnormalities, and in particular AO and enchondromatosis associated with bone fragility. This new observation, added to the other reported cases, suggests a close relationship between the presence of this microduplication and the skeletal abnormalities found in the patient. We suggest the descriptive name ABES (acro-osteolysis, bone fragility and enchondromatosis syndrome) to designate this disorder.
Topics: Acro-Osteolysis; Adolescent; Child; Cross-Sectional Studies; Enchondromatosis; Female; Humans; Parathyroid Hormone-Related Protein; Radiography
PubMed: 35908058
DOI: 10.1186/s12969-022-00720-8 -
Vascular Medicine (London, England) Oct 2022
Topics: Cardiology; Enchondromatosis; Humans
PubMed: 35903973
DOI: 10.1177/1358863X221101654 -
Cancers Jul 2022Ollier disease (OD) is a rare nonhereditary type of dyschondroplasia characterized by multiple enchondromas, with typical onset in the first decade of life. Surgery is... (Review)
Review
Ollier disease (OD) is a rare nonhereditary type of dyschondroplasia characterized by multiple enchondromas, with typical onset in the first decade of life. Surgery is the only curative treatment for primary disease and its complications. Patients with OD are at risk of malignant transformation of enchondromas and of occurrence of other neoplasms. A wide literature review disclosed thirty cases of glioma associated with OD, most of them belonging to the pre-molecular era. Our own case was also included. Demographic, clinical, pathologic, molecular, management, and outcome data were analyzed and compared to those of sporadic gliomas. Gliomas associated with OD more frequently occur at younger age, present higher rates of multicentric lesions (49%), brainstem localizations (29%), and significantly lower rates of glioblastomas (7%) histotype. The IDH1 R132H mutation was detected in 80% of gliomas of OD patients and simultaneously in enchondromas and gliomas in 100% of cases. The molecular data suggest a higher risk of occurrence of glioma in patients with enchondromas harboring the IDH1 R132H mutation than those with the IDH1 R132C mutation. Thus, we suggest considering the IDH1 R132H mutation in enchondromas of patients with OD as a predictive risk factor of occurrence of glioma.
PubMed: 35884525
DOI: 10.3390/cancers14143464 -
Journal of Pediatric Orthopedics. Part B Jan 2023Limb length discrepancy and deformities resulting from Ollier's disease are challenging to treat and have increased complications. We aimed to assess the safety of...
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.
Topics: Humans; Child; Enchondromatosis; Retrospective Studies
PubMed: 35861695
DOI: 10.1097/BPB.0000000000001001 -
World Journal of Surgical Oncology Jun 2022Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk...
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.
Topics: Ankle; Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Humans; Isocitrate Dehydrogenase; Male; Middle Aged; Mutation
PubMed: 35765075
DOI: 10.1186/s12957-022-02686-z -
Clinical Pediatrics Oct 2022
Topics: Child; Enchondromatosis; Female; Humans; Menstruation
PubMed: 35678070
DOI: 10.1177/00099228221101733 -
Journal of Pediatric Orthopedics Aug 2022Multiple enchondromas in the pediatric hand is a relatively rare occurrence and the literature regarding its incidence and treatment is sparse. Within this rare subset...
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).
Topics: Child; Chondroma; Curettage; Enchondromatosis; Fractures, Bone; Fractures, Spontaneous; Hand; Humans; Multicenter Studies as Topic; Retrospective Studies
PubMed: 35575990
DOI: 10.1097/BPO.0000000000002189 -
Anatolian Journal of Cardiology Apr 2022
Topics: Cardiology; Cardiovascular System; Hospitals; Humans; India; Italy
PubMed: 35435846
DOI: 10.5152/AnatolJCardiol.2021.960