Maffucci syndrome: Case report and review of diagnostic signs of the rare disease
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 becom...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-10-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043322005532 |
| _version_ | 1798036769890893824 |
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| author | Muhammad Tahir Khan, MBBS, FCPS Sadaf Arooj, MBBS, MCPS, FCPS Muhammad Umer Mukhtar, MBBS Rewati Raman, MBBS, FCPS |
| author_facet | Muhammad Tahir Khan, MBBS, FCPS Sadaf Arooj, MBBS, MCPS, FCPS Muhammad Umer Mukhtar, MBBS Rewati Raman, MBBS, FCPS |
| author_sort | Muhammad Tahir Khan, MBBS, FCPS |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T21:17:33Z |
| format | Article |
| id | doaj.art-63fbca4653ad46d2ba859fe65ca0fe4b |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-04-11T21:17:33Z |
| publishDate | 2022-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-63fbca4653ad46d2ba859fe65ca0fe4b2022-12-22T04:02:46ZengElsevierRadiology Case Reports1930-04332022-10-01171036743677Maffucci syndrome: Case report and review of diagnostic signs of the rare diseaseMuhammad Tahir Khan, MBBS, FCPS0Sadaf Arooj, MBBS, MCPS, FCPS1Muhammad Umer Mukhtar, MBBS2Rewati Raman, MBBS, FCPS3Department of Radiology, Punjab Institute of Neurosciences, Lahore, Pakistan; Corresponding author at: Room No: 3, Doctor's Hostel, Lahore General Hospital, Ferozpur road, Lahore, 54000 Pakistan.Department of Radiology, Punjab Institute of Neurosciences, Lahore, PakistanKing Edward Medical University, Lahore, PakistanLahore General Hospital, Lahore, PakistanMaffucci 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.http://www.sciencedirect.com/science/article/pii/S1930043322005532Maffucci syndromeEnchondromasHemangiomaSoft tissue nodules |
| spellingShingle | Muhammad Tahir Khan, MBBS, FCPS Sadaf Arooj, MBBS, MCPS, FCPS Muhammad Umer Mukhtar, MBBS Rewati Raman, MBBS, FCPS Maffucci syndrome: Case report and review of diagnostic signs of the rare disease Radiology Case Reports Maffucci syndrome Enchondromas Hemangioma Soft tissue nodules |
| title | Maffucci syndrome: Case report and review of diagnostic signs of the rare disease |
| title_full | Maffucci syndrome: Case report and review of diagnostic signs of the rare disease |
| title_fullStr | Maffucci syndrome: Case report and review of diagnostic signs of the rare disease |
| title_full_unstemmed | Maffucci syndrome: Case report and review of diagnostic signs of the rare disease |
| title_short | Maffucci syndrome: Case report and review of diagnostic signs of the rare disease |
| title_sort | maffucci syndrome case report and review of diagnostic signs of the rare disease |
| topic | Maffucci syndrome Enchondromas Hemangioma Soft tissue nodules |
| url | http://www.sciencedirect.com/science/article/pii/S1930043322005532 |
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