Tumors with adipocyte, myxoid, muscular, osseous, and cartilaginous features
Eckart Haneke in Histopathology of the NailOnychopathology, 2017
Enchondroma is a solitary intraosseous proliferation of cartilage. With up to 90%, it is the most frequent bone tumor of the hand. Multiple enchondromas are observed in enchondromatosis (chondrodysplasia of Ollier, OMIM 166000) and chondrodysplasia with multiple soft tissue and intraosseous hemangiomas (Maffucci–Kast syndrome, OMIM 614569); both syndromes are due to cartilage that fails to undergo normal ossification. Both are also prone to undergo malignant degeneration to chondrosarcoma—almost 25%—and have a higher malignancy rate in general.29 Solitary enchondromas of the distal phalanx with enlargement of the tip of the digit are, however, rare.30–32 Roughly one-fifth of the lesions remain asymptomatic, but paronychia, clubbing, and secondary nail changes with longitudinal ridging are seen.33–35 Pathologic fractures are the result of progressive thinning of the cortical bone. Radiography demonstrates well defined to cloudy radiolucent defects with expansion of the terminal phalanx, in most cases close to the articular surface of the distal interphalangeal joint.36,37 Curettage of the lesion is the treatment of choice.
Benign tumors
Archana Singal, Shekhar Neema, Piyush Kumar in Nail Disorders, 2019
Enchondroma is the most frequent of the subungual chondromas. It is a solitary intraosseous proliferation of cartilage. Multiple enchondromas are observed in enchondromatosis (chondrodysplasia of Ollier, OMIM 166000) and chondrodysplasia with multiple soft tissue and intraosseous hemangiomas (Maffucci–Kast syndrome, OMIM 614569); both syndromes are due to cartilage that fails to undergo normal ossification and both tend to progress to chondrosarcoma—almost 25%—and have a higher malignancy rate in general.223 Solitary enchondromas of the distal phalanx with enlargement of the tip of the digit is rare.224 About 20% of the lesions remain asymptomatic, but paronychia, clubbing, and secondary nail changes with longitudinal ridging are seen.225 Pathologic fractures are the result of progressive thinning of the cortical bone. Radiography demonstrates well-defined to cloudy radiolucent defects with expansion of the terminal phalanx, in most cases close to the articular surface of the distal interphalangeal joint.5
Principles of Clinical Diagnosis
Susan Bayliss Mallory, Alanna Bree, Peggy Chern in Illustrated Manual of Pediatric Dermatology, 2005
a. Diffuse asymmetric enchondromatosis and multiple venous malformations Soft blue subcutaneous nodules which progressively enlargeHard nodules appear on long bones, hands, fingers and feetGross deformity may occurEnchondromas can transform into chondrosarcoma (~15%)Gene map locus 3p22-p21.1; gene: PTH/PTHRP type I receptor
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Published in Pediatric Hematology and Oncology, 2020
Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin Shah, Arpan A. Sinha
A six-month-old boy, born at term to non-consanguineous parents, presented with unilateral congenital cataract, short stature and developmental delay. He had abnormal skin pigmentation – predominantly abdominal streaky and whorly hyperpigmented papules and plaques; large lop ears; bumpy irregularities of femur and tibia and brachydactyly. Dermatology felt his skin lesions most likely represented angiokeratoma circumscriptum due to their well-demarcated, plaque-like appearance. Imaging showed skeletal enchondromatosis as evidenced by benign hyaline cartilage forming tumors in the medulla of the metaphyseal bone14 (Figure 1). Workup revealed elevated urine D-2-HGA levels, consistent with the diagnosis MC-HGA.
Malignant transformation of a phalangeal enchondroma into a recurrent grade II chondrosarcoma requiring successive transcarpal amputations: a case report
Published in Case Reports in Plastic Surgery and Hand Surgery, 2022
Ceyran Hamoudi, Benjamin Bouillet, Antoine Martins
Recurrence of enchondromas is uncommon, and malignant transformation of a benign enchondroma or multiple enchondromatosis to secondary chondrosarcomas in the hand is extremely rare [6]. Some conditions, such as Ollier disease or Maffucci syndrome, characterized by multiple enchondromas, are associated with a high malignant transformation rate, varying from 20% to 57% [10]. Nevertheless, in our case, a malignant transformation of an enchondroma to a grade II chondrosarcoma was observed.
Related Knowledge Centers
- Enchondroma
- Osteochondrodysplasia
- Ollier Disease
- Maffucci Syndrome
- Diffuse Neonatal Hemangiomatosis