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Maffucci'S syndrome associated with hyperparathyroidism.

Rao AG, Indira D, Rekha TN - Indian J Dermatol (2011)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Gandhi Medical College, Hyderabad, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Radiograph of the skull showing diffuse osteoporosis
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Figure 4: Radiograph of the skull showing diffuse osteoporosis

Mentions: 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. She was investigated and was subsequently diagnosed as a case of chronic pancreatitis. 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. The patient also had recurrent episodes of acute pancreatitis. On examination, the patient was malnourished and anemic. 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 2–5 cm in diameter, nontender, and were not attached to the underlying structures. The patient also had thyroid enlargement. Routine investigations were normal except for anemia and raised FBS (180 mg/dl). LFT was within normal limits. Serum paratharmone levels were elevated (859 U/l). Serum calcium was normal (9 mg/dl). X-ray of both hands showed multiple cystic lesions on the radial aspect of the phalanges [Figure 3]. X-ray of the left hand showed soft tissue swellings. 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. There were osteolytic lesions involving iliac bones and sacrum. Serum amylase was raised (349 U/l); HIV I and II and HBsAg were negative. USG of neck showed multinodular goiter with enlarged left lower parathyroid. T3, T4, TSH levels were within normal limits. Biopsy of thyroid swelling was suggestive of thyroid adenoma. With these clinical and laboratory findings she was diagnosed as Muffucci's syndrome with hyperparathyroidism.


Maffucci'S syndrome associated with hyperparathyroidism.

Rao AG, Indira D, Rekha TN - Indian J Dermatol (2011)

Radiograph of the skull showing diffuse osteoporosis
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108523&req=5

Figure 4: Radiograph of the skull showing diffuse osteoporosis
Mentions: 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. She was investigated and was subsequently diagnosed as a case of chronic pancreatitis. 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. The patient also had recurrent episodes of acute pancreatitis. On examination, the patient was malnourished and anemic. 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 2–5 cm in diameter, nontender, and were not attached to the underlying structures. The patient also had thyroid enlargement. Routine investigations were normal except for anemia and raised FBS (180 mg/dl). LFT was within normal limits. Serum paratharmone levels were elevated (859 U/l). Serum calcium was normal (9 mg/dl). X-ray of both hands showed multiple cystic lesions on the radial aspect of the phalanges [Figure 3]. X-ray of the left hand showed soft tissue swellings. 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. There were osteolytic lesions involving iliac bones and sacrum. Serum amylase was raised (349 U/l); HIV I and II and HBsAg were negative. USG of neck showed multinodular goiter with enlarged left lower parathyroid. T3, T4, TSH levels were within normal limits. Biopsy of thyroid swelling was suggestive of thyroid adenoma. With these clinical and laboratory findings she was diagnosed as Muffucci's syndrome with hyperparathyroidism.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Gandhi Medical College, Hyderabad, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus