|Year : 2020 | Volume
| Issue : 2 | Page : 173-175
Maffucci syndrome with multiple soft-tissue hemangiomas: A rare case report
Chandraprakash Chouhan, Rao Pankaj, Dilip Kachhawa
Department of Dermatology, Venereology and Leprosy, Dr. S. N. Medical College, Jodhpur, Rajasthan, India
|Date of Submission||23-Jul-2019|
|Date of Acceptance||01-Dec-2019|
|Date of Web Publication||18-Aug-2020|
F-46, UIT Colony, Pratap Nagar, Jodhpur - 342 003, Rajasthan
Source of Support: None, Conflict of Interest: None
Maffucci syndrome, a congenital mesodermal dysplasia, characterized by multiple enchondromas and hemangiomas was first described in 1881, and 200 cases have been reported in the literature since then. Here, we report the case of a 30-year-old male who presented with multiple soft, compressible swellings present on the back and right feet for 15 years and swelling of the right knee joint with difficulty in walking for 2 years. Roentgenogram of the right foot and hand showed multiple, small radiolucent (osteolytic lesions) areas at 1st metatarsal, distal phalanges, cuneiforms, talus bones, and 1st metacarpal bone suggestive of enchondromas. Doppler study showed venous malformation. Computed tomography (CT) scan of the right lower limb extending up to mid abdomen was suggestive of Maffucci syndrome with soft-tissue hemangioma and intraosseous enchondromas in the tibia and femur. This case is being reported for its rarity. These patients have a possibility of malignant transformation in about 30% of cases thus requiring early detection and management if required.
Keywords: Congenital mesodermal dysplasia, enchondromas, hemangiomas, Maffucci syndrome
|How to cite this article:|
Chouhan C, Pankaj R, Kachhawa D. Maffucci syndrome with multiple soft-tissue hemangiomas: A rare case report. Clin Dermatol Rev 2020;4:173-5
| Introduction|| |
Maffucci syndrome is very rare. As it was first described in 1881, fewer than 200 cases have been reported worldwide. It is a rare, congenital, nonhereditary mesodermal dysplasia that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop on the bones. These growths most commonly occur in the ends of limb bones, especially in the hands and feet; however, they may also occur in the skull, ribs, vertebrae, and mucosa. Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
It is distinguished from similar disorders involving enchondromas by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant), affected individuals may develop bone cancers called chondrosarcomas, especially in the skull.
The cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.
| Case Report|| |
A 30-years-old male patient presented with multiple soft, swellings on the right feet for 15 years and swelling of knee joint associated with difficulty in walking from the last 2 years. Pain and swelling was gradually increasing since last 2 months. There was no physical or mental abnormality noted until he was 15 years of age. There was no family history of similar disease. At the age of 15, he started complaining of small swellings on the sole of the right foot. Swellings were asymptomatic but gradually increasing in size and number over 10 years. Swelling cover entire right foot with few swellings are present above the knee, abdomen, and back [Figure 1]a and [Figure 1]b.
|Figure 1: (a) Multiple soft bluish compressible swelling present over lower back along midline. (b) Multiple soft-tissue swelling over the knee and sole of the right foot|
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On examination, asymmetrically distributed 15–20 soft nodules on the sole and dorsum of the right foot and back were present. Nodules were variable in size and shape with a smooth surface. On palpation, they were nontender and fluctuant. These were soft, bluish, and compressible. There was no mucosal and nails involvement. All systemic examination and routine investigations were normal.
X-rays of the right foot shows multiple, small radiolucent (osteolytic lesions) areas at distal phalanges, cuneiforms, talus bones, and lower end and head region of the 1st metatarsal bone [Figure 2]a and [Figure 2]b. X-rays of the knee joint show large osteolytic lesions with cortical erosions and pathological fracture of the lower end of the femur [Figure 2]c. Small radiopaque lesion noted in subcutaneous plane of the right hand, near lower end of the 1st metacarpal bone, and chest and spine X-rays were normal.
|Figure 2: (a) X-rays of the left foot shows multiple, small radiolucent (osteolytic lesions (uuper arrow) areas at distal phalanges, cuneiforms, talus bones and lower end and head region of 1st metatarsal bone and few soft-tissue calcification called phleboliths (lower arrow). (b) X-rays of the right foot shows multiple, small radiolucent (osteolytic lesions) areas at distal phalanges. (c) X-rays of the right knee joint showing large osteolytic lesions with cortical erosions and pathogical fracture (arrow) of lower end of the femur|
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Ultrasonography of the ankle and leg showed a cystic and compressible lesion with edema in the musculofascial plane. Hypoechoic collection with interval radiating band noted in the right knee. A biopsy was not taken because the patient refused to give consent. Doppler study shows venous malformation.
Computed tomography (CT) scan (three-phase contrast) of the right lower limb revealed multiple soft-tissue hemangiomas extending from the foot up to the mid abdomen in subcutaneous as well as in the muscle planes of the right lower limb, expansile cystic lesions with hyperdense foci seen in lower three-fourth of the right femur and in almost entire right tibia with large soft-tissue component at medial condyle of the knee suggestive of tibial and femoral enchondromas with a malignant transformation of enchondroma at femoral condyle.
CT scan of the right foot showed multiple lytic lesions (enchondromas) with soft-tissue swelling with multiple calcific foci suggestive of phleboliths [Figure 3].
|Figure 3: Computed tomography scan of the right foot showed multiple lytic lesions (enchondromas) (white arrow) with soft-tissue swelling with multiple calcific foci (yellow arrow) suggestive of phleboliths|
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Multiple cortical as well as central erosive lesions in multiple tarsal bones as well as the lower end of metatarsal bones suggestive of bone eroded by soft-tissue cavernous hemangiomas/synovial cavernous hemangiomas.
All these suggestive of Maffucci syndrome with soft-tissue hemangioma and intraosseous enchondromas in tibia and femur with the probability of malignant transformation.
| Discussion|| |
Maffuci's syndrome do not have a familial pattern of inheritance. The symptoms may begin early in life, at an average age of 4–5 years with 25% being congenital. There is no racial or gender predisposition, and fertility is not affected. As bone grows and lengthens, cartilage is left behind and grows irregularly to form expanded cartilaginous tumors (enchondromas).
Clinically, these tumors appear as hard nodules arising from the bone and on radiography as multiple irregular cystic lucencies in the growth region. Enchondromas are most frequent on the hands (88%) followed by tibia/fibula (56%), foot (51%), femur (47%), humerus (39%), radius/ulna (37%), ribs (30%), pelvis (23%), and head (12%). They are also reported intracranially at tuberculum sella and cerebellopontine angle. Histologically, the hemangiomas are often of the complex venous type, but capillary and mixed venous and capillary type can occur. They are located in the mid to lower dermis and subcutaneous fat. In the dilated vessels and vascular spaces, there is a tendency for thrombosis and subsequent calcification (phleboliths) which can be identified by radiography as in our patient.
Lymphangiomas represent another rare aspect of the mesodermal dysplasia in Maffuci's syndrome. The existence of lymphangiomas without hemangioma has been proposed as a subform of Maffuci's syndrome.
An overall malignancy rate of 37% has been reported. By far, the most common tumor is chondrosarcoma which occurs in 30% of patients and is reported at unusual sites such as cranial base and nasal septum. The average age of the development of chondrosarcoma is 40 years, but the age has ranged from 13 to 69 years. Other malignant neoplasms include astrocytoma, ovarian tumors, pancreatic carcinoma, hemangiosarcoma, and lymphangiosarcoma.
The condition has to be differentiated from Ollier's disease in which there are dyschondroplasias without the cutaneous malformation seen in Maffuci's syndrome and Gorham's disease in which the bone is replaced by vascular malformation, generally of venous type, and there may be associated cutaneous and soft-tissue vascular malformations.
| Conclusion|| |
There is no treatment to slow down the progression of the disease. Therefore, the management consists mainly of symptomatic relief and regular follow-up of these patients to assess for the development of these complications.
The patients are typically of normal intellect and majority of them can live a reasonably normal life, but some patients have to endure the years of orthopedic complications. The prognosis is grim in some patients when either skeletal or extraskeletal malignancy develops by the end of the fourth decade.
We herein reported it due to it is a very rarely reported entity in literature.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]