|Year : 2019 | Volume
| Issue : 1 | Page : 65-68
Maffucci's syndrome: A rare case report with unusual location
Shilpa Laxman Patwekar, Swapna Subhash Khatu, Nirali Girish Shah, Neeta Gokhale
Department of Dermatology, SMT Kashibai Navale Medical College and General Hospital, Pune, Maharashtra, India
|Date of Submission||14-Feb-2018|
|Date of Acceptance||27-Apr-2018|
|Date of Web Publication||18-Jan-2019|
Shilpa Laxman Patwekar
Department of Dermatology, SMT Kashibai Navale Medical College and General Hospital, Narhe, Pune - 411 041, Maharashtra
Source of Support: None, Conflict of Interest: None
Maffucci's syndrome is a rare nonhereditary syndrome characterized by multiple enchondromas and hemangiomas, which is commonly observed over hands and feet. We are presenting a rare case of Maffucci's syndrome in a 13-year-old female with hemangiomas situated over the presternal area, which is an unusual area of involvement.
Keywords: Enchondromas, hemangiomas, Maffucci's syndrome
|How to cite this article:|
Patwekar SL, Khatu SS, Shah NG, Gokhale N. Maffucci's syndrome: A rare case report with unusual location. Med J DY Patil Vidyapeeth 2019;12:65-8
|How to cite this URL:|
Patwekar SL, Khatu SS, Shah NG, Gokhale N. Maffucci's syndrome: A rare case report with unusual location. Med J DY Patil Vidyapeeth [serial online] 2019 [cited 2020 Jun 5];12:65-8. Available from: http://www.mjdrdypv.org/text.asp?2019/12/1/65/250439
| Introduction|| |
Maffucci's syndrome is a rare genetic disease with fewer than 200 cases reported till date. It is characterized by the presence of multiple enchondromas resulting in bone deformities and soft-tissue hemangiomas. The cause of this syndrome is unclear, and there is no familial pattern of inheritance. The disease appears sporadically with no sex or racial predilection. Patients are normal at birth, and the syndrome manifests during childhood and puberty. It starts developing at 4–5 years in 25% of cases, starts before the age of six in 45% of cases, and develops before puberty in 78% of cases. The disease is associated with a high risk of developing neoplastic transformation. The risk of malignant transformation is higher in chondromatous lesions as compared to hemangiomas.
| Case Report|| |
A 13-year-old girl presented in outpatient department with multiple swellings over hands and malformations of upper extremities. The patient noticed them at the age of 4 years. Swellings increased in size slowly and were painless. The patient also developed progressive bony distortions since then. Intelligence was normal. Examination revealed multiple bluish soft-to-firm nontender, compressible nodules of size 1.5–2.0 cm over palmar and dorsal aspects of hands, a few showing areas of ulceration [Figure 1] and [Figure 2], and a single bluish hyperpigmented soft-to-firm nodule of size 2–3 cm over the presternal area [Figure 3]. Multiple hard bony skin-colored nodular swellings are present over the dorsal aspect of wrist joint and phalanges [Figure 4]. Disproportionate limb growth with scoliosis was present [Figure 5]. Radiographs of upper limbs revealed multiple-rounded expansile lytic lesions over phalanges, radius, and ulna suggestive of enchondromas [Figure 6]a and [Figure 6]b. Radiograph of the chest revealed the presence of scoliosis [Figure 7]. Histopathological examination of the bluish lesion revealed dilated vascular spaces in the dermis lined by the single layer of endothelium-containing red blood cells [Figure 8]. Complete blood count, erythrocyte sedimentation rate, and serum calcium levels were normal. Abdominal ultrasonography was normal. On the basis of clinical and histopathological findings, a diagnosis of Maffucci's syndrome was made. The patient was explained about the risk of malignancy and importance of regular follow-up. Presence of hemangioma over the presternal area is an unusual manifestation of Maffucci's syndrome.
|Figure 4: Multiple skin-colored nodules (enchondromas) over the dorsal aspect of phalanges, wrist joint|
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|Figure 6: (a and b) Radiograph of upper limb revealed multiple expansile lytic lesions (enchondromas) over phalanges, radius, and ulna|
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|Figure 8: Histopathological examination of the bluish lesion revealed dilated vascular spaces in the dermis|
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| Discussion|| |
Maffucci's syndrome is a nonhereditary condition that usually presents before the onset of puberty. It was first described by Angelo Maffuci in 1881 after a 40-year-old woman died from complications following amputation of an arm. It manifests early in life, usually around the age of 4–5 years, with 25% of cases being present since birth. It is not associated with mental retardation. No familial pattern of inheritance was observed. It affects both sexes equally, and it is characterized by the presence of enchondroma combined with hemangioma and less commonly lymphangioma. Both skeletal and vascular lesions are asymmetrically distributed over extremities. Enchondromas are benign cartilaginous tumors, manifesting as painless swelling of a digit, or as pathological fractures. Somatic mutation in the isocitrate dehydrogenase (IDH) 1 and IDH2 genes are common in enchondromas. Enchondromas have particular site predilections which are as follows: hands (88%), tibia/fibula (56%), foot (51%), femur (47%), humerus (39%), radius/ulna (37%), ribs (30%), pelvis (23%), and head (12%). Irregular expansion of enchondromas may prevent skeletal growth which causes deformities such as short stature, scoliosis, and pathological fractures with delayed union or healing. Radiological examination of enchondromas revealed radiolucent well-demarcated lesions and showed expansile remodeling of the affected bone with predominant thinning of the cortex and endosteal scalloping.
The hemangiomas in Maffucci's syndrome are mostly located in the subcutaneous soft tissue and appear as blue subcutaneous nodules, which can be emptied by manual compression. They grow in proportion with the growth of the body and have no tendency to resolve. They are most commonly located over the hands (57%) and feet (41%). Other sites for hemangiomas are arms, legs, or trunk. They can essentially occur anywhere and have been reported in the leptomeninges, pulmonary tree, throughout the gastrointestinal tract from the oral to anal mucosa, cervical spine, orbital origin, and mediastinum. In our case, we observed hemangioma over presternal area – an uncommon location., Histologically, they are located in the mid to lower dermis and subcutaneous fat. Dilated vessels and vascular spaces have tendency for thrombosis and subsequent calcification (phleboliths) which can be identified by radiography.
Lymphangiomas represent another rare aspect of the mesodermal dysplasia in Maffucci's syndrome. The existence of lymphangiomas without hemangioma has been proposed as a subform of Maffucci's syndrome.
Malignant and benign tumors of both mesodermal and nonmesodermal origin have been associated with Maffucci's syndrome. The most common tumor is chondrosarcoma. The risk of malignant transformation of chondroma to chondrosarcoma varies from 30% to 50%. The average age for the development of chondrosarcoma is 40 years (range: 13–69 years). The total volume of dysplastic cartilage is assumed to predetermine the risk of developing chondrosarcoma. Chondrosarcoma can be treated with surgical resection. Other malignant neoplasms include astrocytoma, ovarian tumors, osteosarcoma, and benign tumors including pituitary adenoma and uterine fibroid.
The condition has to be differentiated from Ollier's disease, in which only dyschondroplasias is observed, and Gorham's disease in which only hemangiomas is observed.
In asymptomatic cases, no treatment is indicated. Management of Maffucci's syndrome aims at relief of symptoms and early detection of malignancies. Operative procedures for skeletal lesions such as corrective osteotomy and lengthening of an arm or leg can be done. Curettage and packing with bone graft material are another surgical method for skeletal lesions. For the vascular lesions, sclerotherapy, irradiation, and surgery can be done. Efficacy of rapamycin for refractory hemangioendotheliomas in Maffucci's syndrome has also been recently reported by Chua SH et al. Rapamycin and mTOR inhibitor (mammalian target of rapamycin) given 4 mg/day (2.5 mg/m2) to a 20-year-old male with Maffucci's syndrome resulted in softening of nodules, and decrease in pain as early as 2 weeks after treatment.
We are presenting this case for rarity of its presentation and unusual area of involvement – hemangioma over the presternal area [Table 1]. To the best of our knowledge, this is the first description of the presence of hemangioma localized over the presternal area in Maffuci's syndrome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
The authors would like to thank Dr. Samruddhi Pujalwar, Department of Radiology, SKNMC, Narhe, Pune.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]