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Upper extremity hypertrophy secondary to neurofibromatosis: A case report
Upper extremity hypertrophy secondary to neurofibromatosis: A case report A case of neurofibromatosis causing diffuse elephantoid hypertrophy of an upper limb is described. Infiltration by tumor mass led to disruption of the carpus and dislocation of the hand.
Michael J. Shereff, M.D., Martin A. Posner, M.D., and Michael H. Gordon, M.D., New York, N.Y.
One of the most striking skeletal manifestations of neurofibromatosis is localized elephantoid hypertrophy of a limb. Although many authors have described hypertrophy of the lower limb, diffuse involvement of the ,bpper extremity has been rarely reported. ,Case report R.J . 's mother first noted a "lump" over the dorsal aspect of his right hand when he was 3 years of age. It was not until age 17 that the mass started to increase in size. At the time of our examination, there were multiple caft! au From the Hand Service, The Orthopaedic Institute, Hospital for Joint Diseases, New York, N.Y. Received for publication July 27, 1979; revised Nov. 13, 1979. Reprint requests: Michael J. Shereff, M.D. , The Orthopaedic Institute, Hospital for Joint Diseases, 301 E. 17th SI., New York, N. Y. 10003.
lait spots and subcutaneous nodules scattered about the anterior and posterior aspects of the trunk and the right axilla on this 25-year-old black man. There was elephantoid hypertrophy of the entire right upper extremity. The limb was 6.5 cm longer than the left, and measurements of circumference of both limbs showed the right to be 1.5 cm greater at the midportion of the arm, 10 cm greater at the elbow, 6.5 cm greater at the midportion of the forearm and 10.5 cm greater at the wrist. The skin was coarse and lax and hung in thick, redundant folds . An irregular, firm, non tender mass measuring 8 by 8 cm was present over the dorsal lateral aspect of the distal forearm, wrist, and hand (Fig . I) . The carpus was dislocated and the hand supinated more than 100°. Elbow motions were limited, and there was only a few degrees of forearm supination. The patient was able to hold small objects in his hand and to write, but the latter with difficulty because the dorsum of his hand abutted against the paper. There was hypoesthesia in the peripheral distribution
Fig.!. A photograph showing the mass over the distal forearm, wrist, and hand. 0363-5023 / 80/040355+03$00.30/0 © 1980 American Society for Surgery of the Hand
THE JOURNAL OF HAND SURGERY
355
356
The Journal of HAND SURGERY
Shereff, Posner, Gordon
Fig. 2. The appearance of tumor mass at operation. of the musculocutaneous and radial nerves. The vascular status was intact. His family history was significant in that the patient's mother, one aunt, and one uncle were reported to have multiple "skin bumps .. , The laboratory workup was negative, except that in the roentgenograms the humerus and both bones of the forearm appeared to be slender and elongated and there were pressure erosions noted at the distal end of the humerus and along the entire shafts of the radius and ulna. The radial head was dislocated volarly and there was marked destruction of the carpus. An attempt was made to stabilize the wrist in a more functional position and to reduce the girth of the limb (Fig. 2), but the procedure was difficult, due to the marked rotational deformity of the hand on the forearm. After operation the func'tional gain was insignificant and the extremity continued to enlarge. The patient requested an amputation, which was done 5 months later through the distal portion of the humerus. Microscopic examination showed tumor masses composed of patternless, neurofibromatous spindle cells with comashaped nuclei infiltrating the skin, subcutaneous tissue, muscle, and nerve fascicles. There was no evidence of sarcomatous degeneration. Following operation the patient was fitted with a prosthesis and adapted to it well.
Discussion
The skeletal lesions associated with neurofibromatosis include scoliosis, bone erosions, bone cysts, congenital pseudoarthrosis, and abnormalities of bone
growth (usually hypertrophy).1 Of these various conditions, the most unusual is limb hypertrophy. Numerous case reports describe enlargement of a lower extremity, as well as focal hypertrophy of various segments of an upper extremity. However, diffuse involvement of an upper extremity has been only occasionally recorded. McCarrolF described one patient with bone cysts and one patient with melorheostosis, both of whom apparently had hypertrophy of an upper extremity. Holt and Wright 3 described a 4-year-old child with diffuse overgrowth of an upper extremity associated with plexiform neurofibroma. Rogers4 notes a case recorded by deMorgan of a 15-year-old girl with neurofibromatous involvement of an entire upper limb. Sarcomatous change necessitated amputation. A case of BrownSequard syndrome with bilateral upper extremity hypertrophy associated with neurofibromatosis was described by Hudson and Cox. 5 Treatment consisted of amputation of one limb and resection of subcutaneous tissue of the other limb. Anzinger 6 described a case similar to the one described here in which amputation was proposed as the procedure of choice. The case reported here had marked disruption of the carpus by neurofibromatous tissue leading to a complete dislocation and severe malrotation of the hand. Since treatment of these lesions often presents a most difficult problem, reconstructive surgery aimed at improving function may be of limited value, and most of these patients eventually go on to amputation.
Vol. 5, No.4 July 1980
REFERENCES I. Aegerter E, Kirkpatrick J: Orthopedic diseases. Philadelphia, 1975, WB Saunders Co, pp 174-84 2. McCarroll HR: Clinical manifestations of congenital neurofibromatosis. J Bone Joint Surg [Am] 32:601-17, 1950 3. Holt JF, Wright EM: The radiologic features of neurofibromatosis. Radiology 51 :647 -64, 1948 4. Rogers L: Macrodactylia in a child, due to neurofibromatosis. Br J Surg 16:684-6, 1929
Neurofibromatosis
357
5. Hudson LD, Cox TR: Brown-Sequard syndrome with bilateral elephantiasis in neurofibromatosis. lAMA 161 : 326-8, 1956 6. Anzinger FP: Congenital plexiform neurofibromas and elephantiasis neuromatosa of the right arm and neck. lAMA 96:1381-2, 1931
Michael J. Shereff, M.D., Martin A. Posner, M.D., and Michael H. Gordon, M.D., New York, N.Y.
One of the most striking skeletal manifestations of neurofibromatosis is localized elephantoid hypertrophy of a limb. Although many authors have described hypertrophy of the lower limb, diffuse involvement of the ,bpper extremity has been rarely reported. ,Case report R.J . 's mother first noted a "lump" over the dorsal aspect of his right hand when he was 3 years of age. It was not until age 17 that the mass started to increase in size. At the time of our examination, there were multiple caft! au From the Hand Service, The Orthopaedic Institute, Hospital for Joint Diseases, New York, N.Y. Received for publication July 27, 1979; revised Nov. 13, 1979. Reprint requests: Michael J. Shereff, M.D. , The Orthopaedic Institute, Hospital for Joint Diseases, 301 E. 17th SI., New York, N. Y. 10003.
lait spots and subcutaneous nodules scattered about the anterior and posterior aspects of the trunk and the right axilla on this 25-year-old black man. There was elephantoid hypertrophy of the entire right upper extremity. The limb was 6.5 cm longer than the left, and measurements of circumference of both limbs showed the right to be 1.5 cm greater at the midportion of the arm, 10 cm greater at the elbow, 6.5 cm greater at the midportion of the forearm and 10.5 cm greater at the wrist. The skin was coarse and lax and hung in thick, redundant folds . An irregular, firm, non tender mass measuring 8 by 8 cm was present over the dorsal lateral aspect of the distal forearm, wrist, and hand (Fig . I) . The carpus was dislocated and the hand supinated more than 100°. Elbow motions were limited, and there was only a few degrees of forearm supination. The patient was able to hold small objects in his hand and to write, but the latter with difficulty because the dorsum of his hand abutted against the paper. There was hypoesthesia in the peripheral distribution
Fig.!. A photograph showing the mass over the distal forearm, wrist, and hand. 0363-5023 / 80/040355+03$00.30/0 © 1980 American Society for Surgery of the Hand
THE JOURNAL OF HAND SURGERY
355
356
The Journal of HAND SURGERY
Shereff, Posner, Gordon
Fig. 2. The appearance of tumor mass at operation. of the musculocutaneous and radial nerves. The vascular status was intact. His family history was significant in that the patient's mother, one aunt, and one uncle were reported to have multiple "skin bumps .. , The laboratory workup was negative, except that in the roentgenograms the humerus and both bones of the forearm appeared to be slender and elongated and there were pressure erosions noted at the distal end of the humerus and along the entire shafts of the radius and ulna. The radial head was dislocated volarly and there was marked destruction of the carpus. An attempt was made to stabilize the wrist in a more functional position and to reduce the girth of the limb (Fig. 2), but the procedure was difficult, due to the marked rotational deformity of the hand on the forearm. After operation the func'tional gain was insignificant and the extremity continued to enlarge. The patient requested an amputation, which was done 5 months later through the distal portion of the humerus. Microscopic examination showed tumor masses composed of patternless, neurofibromatous spindle cells with comashaped nuclei infiltrating the skin, subcutaneous tissue, muscle, and nerve fascicles. There was no evidence of sarcomatous degeneration. Following operation the patient was fitted with a prosthesis and adapted to it well.
Discussion
The skeletal lesions associated with neurofibromatosis include scoliosis, bone erosions, bone cysts, congenital pseudoarthrosis, and abnormalities of bone
growth (usually hypertrophy).1 Of these various conditions, the most unusual is limb hypertrophy. Numerous case reports describe enlargement of a lower extremity, as well as focal hypertrophy of various segments of an upper extremity. However, diffuse involvement of an upper extremity has been only occasionally recorded. McCarrolF described one patient with bone cysts and one patient with melorheostosis, both of whom apparently had hypertrophy of an upper extremity. Holt and Wright 3 described a 4-year-old child with diffuse overgrowth of an upper extremity associated with plexiform neurofibroma. Rogers4 notes a case recorded by deMorgan of a 15-year-old girl with neurofibromatous involvement of an entire upper limb. Sarcomatous change necessitated amputation. A case of BrownSequard syndrome with bilateral upper extremity hypertrophy associated with neurofibromatosis was described by Hudson and Cox. 5 Treatment consisted of amputation of one limb and resection of subcutaneous tissue of the other limb. Anzinger 6 described a case similar to the one described here in which amputation was proposed as the procedure of choice. The case reported here had marked disruption of the carpus by neurofibromatous tissue leading to a complete dislocation and severe malrotation of the hand. Since treatment of these lesions often presents a most difficult problem, reconstructive surgery aimed at improving function may be of limited value, and most of these patients eventually go on to amputation.
Vol. 5, No.4 July 1980
REFERENCES I. Aegerter E, Kirkpatrick J: Orthopedic diseases. Philadelphia, 1975, WB Saunders Co, pp 174-84 2. McCarroll HR: Clinical manifestations of congenital neurofibromatosis. J Bone Joint Surg [Am] 32:601-17, 1950 3. Holt JF, Wright EM: The radiologic features of neurofibromatosis. Radiology 51 :647 -64, 1948 4. Rogers L: Macrodactylia in a child, due to neurofibromatosis. Br J Surg 16:684-6, 1929
Neurofibromatosis
357
5. Hudson LD, Cox TR: Brown-Sequard syndrome with bilateral elephantiasis in neurofibromatosis. lAMA 161 : 326-8, 1956 6. Anzinger FP: Congenital plexiform neurofibromas and elephantiasis neuromatosa of the right arm and neck. lAMA 96:1381-2, 1931