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maffucci 's syndrome is a rare , congenital , nonhereditary mesodermal dysplasia which consists of hemangiomas of the soft tissue and multiple enchondromas.[13 ] it was first described by maffucci in 1881 .
approximately 170 cases have been reported in the literature.[35 ] maffucci 's syndrome is known to be associated with malignant and benign tumors.[35 ] the common benign tumors associated with maffucci 's syndrome include pituitary adenoma , adrenal cortical adenoma , parathyroid adenoma , and breast fibroadenomas .
most benign tumous with maffucci 's syndrome are endocrine tumors and are often associated with more than one tumor .
a 30-year - old female was referred to the department of dermatology for the evaluation of multiple soft cystic swellings over the dorsum of both hands , palms , and dorsum of both feet since childhood .
she was admitted to the department of gastroenterology with recurrent episodes of acute pain in the abdomen .
the patient gave history of having recurrent episodes of pain in the left lower limb associated with hard swellings about 10 years back , for which she was admitted to a hospital and which was subsequently diagnosed as enchondroma of the lower end of the femur and was treated with bone curettage and grafting .
histopathological examination of the specimen showed hyaline cartilage with mononuclear cells with lacunae . at the periphery were the trabeculae of lamellated bone and marrow space showed islands of hematopoietic cells , suggestive of enchondromas .
other histories included recurrent episodes of cholelithiasis for which she underwent cholecystectomy and a history of renal calculi due to which she developed grade ii renal parenchymal disease .
bluish cystic swellings showed over the dorsal aspect of both hands , palms [ figure 1 ] , and also on the ankles and dorsal aspect of both feet [ figure 2 ] .
the swellings were 25 cm in diameter , nontender , and were not attached to the underlying structures .
routine investigations were normal except for anemia and raised fbs ( 180 mg / dl ) .
x - ray of both hands showed multiple cystic lesions on the radial aspect of the phalanges [ figure 3 ] .
x - ray of the skull showed diffuse loss of bone density [ figure 4 ] .
x - ray left knee showed surgical defect in lower end of the femur [ figure 5 ] .
ercp showed distal narrowing with proximal dilation of common bile duct diagnosed as pancreatitis with a ductal leak .
ultrasonography of the abdomen showed features suggestive of chronic pancreatitis and bilateral renal parenchymal disease .
a ct scan of the abdomen showed postcholecystectomy status , altered pancreatic parenchyma with peripancreatic edema .
serum amylase was raised ( 349 u / l ) ; hiv i and ii and hbsag were negative .
with these clinical and laboratory findings she was diagnosed as muffucci 's syndrome with hyperparathyroidism .
bluish swellings on the dorsum of the left hand bluish soft swellings over the left foot radiograph showing surgical defect involving lower end of femur radiograph of the skull showing diffuse osteoporosis
x- ray both hands showing multiple cystic lesions on the radial aspect of phalanges ollier 's disease was also considered in the differential diagnosis but was ruled out as hemangiomas are not a feature of ollier 's disease .
maffucci 's syndrome is a rare disease characterized by hemangiomas , enchondromas , and bone deformities .
the venous malformations present as bluish , compressible , nontender , subcutaneous nodules in various areas of the body and usually have an asymmetric distribution .
our patient also presented with similar venous malformations ; however , these lesions were bilateral .
venous malformations have been reported in leptomeninges , the eyes , the pharynx , the trachea , and the intestines .
enchondromas may appear anywhere on the body but are most often found on the hands or feet or on long bones of limbs or on the ribs and the skull .
the case under study also had enchondromas , which was treated with curettage and bone grafting .
the bone deformities include shortening of long bones , resulting in unequal arms and legs .
lewis and ketchum found various benign and malignant neoplasms in their extensive review of the world literature of 105 cases .
the benign tumors include pituitary adenoma , adrenal cortical adenoma , parathyroid adenoma , and breast fibroadenoma .
the malignant tumors associated are chondrosarcoma , astrocytoma , ovarian tumors , pancreatic cancer , hemangiosarcoma , and lymphangiosarcoma .
have reported three different endocrine tumors with muffucci 's syndrome involving parathyroid , thyroid , and adrenal glands .
kenji et al . have reported multiple endocrine tumors ( men ) type i with muffucci 's syndrome involving pituitary , adrenal , and parathyroid glands .
adrian et al . have also reported maffucci 's syndrome with pituitary and parathyroid adenomas along with two other neoplasms .
there are only four case reports of maffucci 's syndrome associated with parathyroid involvement resulting in hyperparathyroidism .
although cystic lesions of the bone and ectopic calcification are common to both the diseases , pathogenesis is apparently unrelated .
the association of parathyroid involvement with maffucci 's syndrome suggests the potential involvement of ectodermal structures in this mesenchymal dysplastic disorder .
maffucci 's syndrome is a rare , congenital , nonhereditary , mesodermal dysplastic disease characterized by venous malformations and benign cartilaginous tumors . 
 the occurrence of endocrine tumors in maffucci 's syndrome is very rare . 
 we report a case of maffucci 's syndrome associated with hyperparathyroidism and multinodular goiter .