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Spontaneous regression of tumoral calcinosis in an infant: A case report
Spontaneous
Regression ByD.M.
Niall,
of Tumoral Calcinosis A Case Report
E.E.
Fogarty,
F.E. Dowling,
Dublin,
A case of tumoral calcinosis presenting as a supraclavicular mass in an infant is reported. After confirmation by incisional biopsy, the lesion spontaneously resolved without further surgical or medical treatment. This phenomenon has not been described previously in a child with this condition.
T
UMORAL CALCINOSIS is a rare benign condition with, as yet, unidentified etiology. It was first described by Duret’ in 1899, and to date there are over 200 cases reported in the literature.2 Most commonly, it presents as a spontaneously occurring, painless, soft tissue mass in the periarticular area of a large joint, the hip joint being the most common site in reported series,3 although caseshave been cited at all the large joints of the upper and lower limb and on the chest wall. The condition is rare in Europe and North America but more common in the dark races. CASE
REPORT
An otherwise healthy l-year-old white boy was referred for investigation of a spontaneously occurring, painless mass m the right supraclavicular region. first noticed 10 days before presentation There was no history of trauma. Exammation findmgs showed a mass. approximately 4 cm in diameter. chnically solid, and fixed to the surrounding structures of the thoracic inlet. Neurological examination findings of the right arm and general physical examination findings were normal. Laboratory study results showed a normal full blood count and normal plasma viscostty at 1.45 mPa. Serum calcium. magnesium, and alkaline phosphatase were also withm the normal range. However. serum inorganic phosphate was slightly raised at 2.15 mmol/L (normal range, 1.2 to 2.0 mmol/L). To exclude a neuroblastoma. urinary catecholamines were measured and were found to be normal. Chest x-ray showed an irregularly calcified mass 4.5 cm in diameter, adjacent to an expanded first rib with a sclerotic margin (Fig 1). There was thickenmg of the pleura over the apex of the right lung. Apart from abnormal tracer uptake in the right supraclavicular region, there were no other lesions seen on a total body bone scan. A computed tomography (CT) scan (Fig 2) confirmed the calcified mass to be directly related to the undersurface of the first rib, heavily calcified in punctuate fashion, and not involvmg the adjacent soft tissue. scapula, or clavicle. A magnettc resonance imaging (MRI) scan confirmed the CT findings. Incisional biopsy findings of the lesion showed tt to be a large calcified mass, fixed to the surrounding structures without infiltration. and containmg a necrotic center. Histological findmgs confirmed a fibrous tissue wtth chronic inflammatory calcification and central necrosis wtth multinucleate osteoclast giant cells. Lymphocytes and plasma cells were present m the periphery. A diagnosis of tumoral calcinosis was made. Cultures of the biopsy material showed no growth. A negative mantoux test result and normal toxoplasma and toxocara JournalofPediatric
Surgery,Vol33,
No 9 (September),
1998: pp 1429-1431
and
D.i?
in an Infant:
Moore
Ireland
J Pediatr Surg ders Company. INDEX WORDS: incisional biopsy
33:1429-1431.
Tumoral
Copyright
calcinosis,
o 1998 by W.B.
Saun-
supraclavicular
mass,
serological findmgs excluded other conditions that may have given rise to a sinnlar htstological ptcture. After biopsy. the wound healed uneventfully. A decision was made to defer definitive excision of the lesion in view of the child’s age and the surgical risks to the adjacent neurovascular structures. However, senal radiographs taken over 3 months showed the lesion to be spontaneously resolving. Semm biochennstry was reassessed after 3 months. Although inorganic phosphate was still marginally elevated at 2.02 mmol/L, urea and all other electrolytes were normal. A 24-hour urinalysis showed an inability to concentrate urine (urme osmolanty, 177 mOsm/L) and a high protein content. mainly microglobuhns. A low reabsorption of phosphate was also noted (77%: normal. >85%). A diagnosis of rmld renal tubular dysfunctton was made. Serum 1,2.5 hydroxy-vitamin D and parathyroid hormone levels were within the normal range. Normal serum phosphate levels in the child’s parents excluded a diagnosis of fan&al hyperphosphataemia. Two months later, serum biochemistry and 24-hour urinalysis were repeated All the previously mentioned parameters had returned to within normal limits. No medical treatment such as a calciumor phosphorus-restricted diet had been instituted. The supraclavicular lesion, having been biopsied only, had spontaneously resolved as seen both on x-ray (Fig 3) and clinical examination 6 months after biopsy. At last follow-up. 2 years after initial presentation. there was no clinical or radiological recurrence. DISCUSSION
Tumoral calcinosis is a rare condition in Europe, particularly in children. There are only two reports in the literature concerning children less than 1 year of age.4.5 Theories on the etiology of the condition are varied. Some investigators suggest an inborn error of phosphate metabolism inherited as an autosomal recessive disorder.6.7This theory is supported by reports in the literature of families in which several siblings have been affected.6.8 Prince et al8 reviewed 40 cases from the literature and found hyperphosphatemia to be a feature in From Our Lady > Hospztal for Sick Clzildren, Crzzmli?z, Dublzn, 12, Ireland. Address reprint requests to D.M. Niall, I13 Queen i Court, Queen’s Park, Monkstown, Co, Dublzn, Ireland. Copyrzght o 1998 by WB. Saulzders Compaq 0022-3468/98/3309-0028$03.00/O
1429
NIALL
1430
Fig 1. Initial chest x-ray shows right supraclavicular region.
an irregularly
calcified
mass in the
13 patients. They proposed that this subgroup represented a distinct clinical entity, characterized by a comparatively high familial incidence, onset before 20 years of age, black race, and multiple lesions. Immunologic factors as a cause of tumoral calcinosis have also been suggested. Gregosiewicz and Wardair reported elevated serum levels of IgA and IgG in a case report. Histology of the pathological lesions typically show the presence of lymphocytes and plasma cells in the nodules. Whether these features represent cause or effect is not known. A further theory on pathogenesis, based on a traumatic etiology, is supported by the higher incidence in poor socioeconomic groups and in Africa. It is proposed that sleeping on hard surfaces may lead to fat necrosis and dystrophic calcification. l2 However, evidence of fat necrosis
Fig 2. infiltrating
MRI scan coronal the rib cage.
view
shows
a wall-defined
ET AL
mass,
not
Fig 3. resolution.
Chest
x-ray
E months
after
excision
shows
complete
has not been identified in histological sections, and the theory does not explain why some lesions continue to grow. None of the above theories clearly explain the occurrence of the lesion in our patient. Hyperphosphatemia was only a transient feature, and normal phosphate levels in the parents made an inborn error of metabolism an unlikely etiology. Although serum electrophoresis was not carried out, the incidence of transient microglobulinuria and renal tubular dysfunction may support an immunologic cause. Treatment of the condition to date is complete surgical excision. Inadequate excision in adults has been associated with a high level of recurrence, in patients with and without metabolic disturbances2 Medical treatment using calcitonin, diphosphonates, steroids, and phosphorusrestricted diets have been used in a small number of cases with mixed results.13.14There is one report in the literature of a 6-year-old child successfully treated with a phosphorus- and calcium-restricted diet, whose lesion showed complete resolution after several months.‘l However, such regimes in children bear the risk of causing ricketic bony changes in the immature skeleton. Their only indication may be in adults who present with multiple lesions and an established imbalance in calcium or phosphorus metabolism, in whom surgical excision may not be practical. Our patient demonstrated spontaneous resolution of his lesion after incisional biopsy only. There are no previous reports of this phenomenon in a child. Although definitive excision of tumoral calcinosis is the treatment of choice in adults, an alternative approach of diagnostic biopsy, followed by a period of observation, may be indicated in children, particularly those in whom the site and size of the lesion may make complete excision hazardous.
TUMORAL
CALCINOSIS
1431
REFERENCES 1. Duret MH: Tumeurs multiples et smgulieres des bourses sereuses Bull Sot Ann Paris 74:725-730, 1899 2. Tezelman S, Siperstein AE, Duh QY, et al. Tumoral calcinosis: Controversies in the etiology and alternatives m the treatment. Arch
8. Prince MJ, Schaefer PC, Goldsmith RS, et al: Hyperphosphatemic tumoral calcinosis. Ann Intern Med 96:586-591, 1982 9. Mitnick PD, Goldfarb S. Slatopolsky E, et al. Calcium and phosphate metabolism m tumoral calcinosts. Ann Intern Med 92:482-
Surg 128:737-745,
487,
3. McKee
1993
PH, Liomba NG, Hutt MSR: Tumoral calcmosis: A pathological study of 56 cases. Br J Dermatol 107:669-674, 1982 4. Bostrom B: Tumoral calcinosis in an infant. Am J Dis Child 135:246-247, 1981 5. Heydemann JS. McCarthy RE: Tumoral calcmosis in a child. J Pedtatr Orthop 8:474-477. 1988 6. Baldursson H, Evans EB. Dodge WF. et al: Tumoral calcinosis with hyperphosphatemia-A report of a famdy with incidence in 4 siblings. J Bone Joint Surg 51A:913-925, 1969 7. Lafferty FW, Reynolds ES, Pearson OH: Tumoral calcmosis: A metabolic disease of unknown ettology. Am J Med 38 105-118. 1965
1980
10. Mitnick PD. Goldfarb S, Slatopolslq E, et al: Hyperphosphatemic tumoral calcinosis. Ann Intern Med 96:586-591, 1982 11. Gregosiewicz A, Warda E: Tumoral calcinosis: Successful medical treatment, A case report J Bone Joint Surg 7 1A: 1244-1249, 1989 12. Berg D: Tumour calcinosis. Br J Surg 59:570, 1972 13. Kirk TS, Simon MA: Tumoral calcmosis: Report of a case with successful medical management. J Bone Joint Surg 63A:1167-1169, 1981 14. Mozaffarian G, Lafferty FW, Pearson 0. Treatment of tumoral calcinosis with phosphate deprivation Ann Intern Med 77:741-745, 1972
Regression ByD.M.
Niall,
of Tumoral Calcinosis A Case Report
E.E.
Fogarty,
F.E. Dowling,
Dublin,
A case of tumoral calcinosis presenting as a supraclavicular mass in an infant is reported. After confirmation by incisional biopsy, the lesion spontaneously resolved without further surgical or medical treatment. This phenomenon has not been described previously in a child with this condition.
T
UMORAL CALCINOSIS is a rare benign condition with, as yet, unidentified etiology. It was first described by Duret’ in 1899, and to date there are over 200 cases reported in the literature.2 Most commonly, it presents as a spontaneously occurring, painless, soft tissue mass in the periarticular area of a large joint, the hip joint being the most common site in reported series,3 although caseshave been cited at all the large joints of the upper and lower limb and on the chest wall. The condition is rare in Europe and North America but more common in the dark races. CASE
REPORT
An otherwise healthy l-year-old white boy was referred for investigation of a spontaneously occurring, painless mass m the right supraclavicular region. first noticed 10 days before presentation There was no history of trauma. Exammation findmgs showed a mass. approximately 4 cm in diameter. chnically solid, and fixed to the surrounding structures of the thoracic inlet. Neurological examination findings of the right arm and general physical examination findings were normal. Laboratory study results showed a normal full blood count and normal plasma viscostty at 1.45 mPa. Serum calcium. magnesium, and alkaline phosphatase were also withm the normal range. However. serum inorganic phosphate was slightly raised at 2.15 mmol/L (normal range, 1.2 to 2.0 mmol/L). To exclude a neuroblastoma. urinary catecholamines were measured and were found to be normal. Chest x-ray showed an irregularly calcified mass 4.5 cm in diameter, adjacent to an expanded first rib with a sclerotic margin (Fig 1). There was thickenmg of the pleura over the apex of the right lung. Apart from abnormal tracer uptake in the right supraclavicular region, there were no other lesions seen on a total body bone scan. A computed tomography (CT) scan (Fig 2) confirmed the calcified mass to be directly related to the undersurface of the first rib, heavily calcified in punctuate fashion, and not involvmg the adjacent soft tissue. scapula, or clavicle. A magnettc resonance imaging (MRI) scan confirmed the CT findings. Incisional biopsy findings of the lesion showed tt to be a large calcified mass, fixed to the surrounding structures without infiltration. and containmg a necrotic center. Histological findmgs confirmed a fibrous tissue wtth chronic inflammatory calcification and central necrosis wtth multinucleate osteoclast giant cells. Lymphocytes and plasma cells were present m the periphery. A diagnosis of tumoral calcinosis was made. Cultures of the biopsy material showed no growth. A negative mantoux test result and normal toxoplasma and toxocara JournalofPediatric
Surgery,Vol33,
No 9 (September),
1998: pp 1429-1431
and
D.i?
in an Infant:
Moore
Ireland
J Pediatr Surg ders Company. INDEX WORDS: incisional biopsy
33:1429-1431.
Tumoral
Copyright
calcinosis,
o 1998 by W.B.
Saun-
supraclavicular
mass,
serological findmgs excluded other conditions that may have given rise to a sinnlar htstological ptcture. After biopsy. the wound healed uneventfully. A decision was made to defer definitive excision of the lesion in view of the child’s age and the surgical risks to the adjacent neurovascular structures. However, senal radiographs taken over 3 months showed the lesion to be spontaneously resolving. Semm biochennstry was reassessed after 3 months. Although inorganic phosphate was still marginally elevated at 2.02 mmol/L, urea and all other electrolytes were normal. A 24-hour urinalysis showed an inability to concentrate urine (urme osmolanty, 177 mOsm/L) and a high protein content. mainly microglobuhns. A low reabsorption of phosphate was also noted (77%: normal. >85%). A diagnosis of rmld renal tubular dysfunctton was made. Serum 1,2.5 hydroxy-vitamin D and parathyroid hormone levels were within the normal range. Normal serum phosphate levels in the child’s parents excluded a diagnosis of fan&al hyperphosphataemia. Two months later, serum biochemistry and 24-hour urinalysis were repeated All the previously mentioned parameters had returned to within normal limits. No medical treatment such as a calciumor phosphorus-restricted diet had been instituted. The supraclavicular lesion, having been biopsied only, had spontaneously resolved as seen both on x-ray (Fig 3) and clinical examination 6 months after biopsy. At last follow-up. 2 years after initial presentation. there was no clinical or radiological recurrence. DISCUSSION
Tumoral calcinosis is a rare condition in Europe, particularly in children. There are only two reports in the literature concerning children less than 1 year of age.4.5 Theories on the etiology of the condition are varied. Some investigators suggest an inborn error of phosphate metabolism inherited as an autosomal recessive disorder.6.7This theory is supported by reports in the literature of families in which several siblings have been affected.6.8 Prince et al8 reviewed 40 cases from the literature and found hyperphosphatemia to be a feature in From Our Lady > Hospztal for Sick Clzildren, Crzzmli?z, Dublzn, 12, Ireland. Address reprint requests to D.M. Niall, I13 Queen i Court, Queen’s Park, Monkstown, Co, Dublzn, Ireland. Copyrzght o 1998 by WB. Saulzders Compaq 0022-3468/98/3309-0028$03.00/O
1429
NIALL
1430
Fig 1. Initial chest x-ray shows right supraclavicular region.
an irregularly
calcified
mass in the
13 patients. They proposed that this subgroup represented a distinct clinical entity, characterized by a comparatively high familial incidence, onset before 20 years of age, black race, and multiple lesions. Immunologic factors as a cause of tumoral calcinosis have also been suggested. Gregosiewicz and Wardair reported elevated serum levels of IgA and IgG in a case report. Histology of the pathological lesions typically show the presence of lymphocytes and plasma cells in the nodules. Whether these features represent cause or effect is not known. A further theory on pathogenesis, based on a traumatic etiology, is supported by the higher incidence in poor socioeconomic groups and in Africa. It is proposed that sleeping on hard surfaces may lead to fat necrosis and dystrophic calcification. l2 However, evidence of fat necrosis
Fig 2. infiltrating
MRI scan coronal the rib cage.
view
shows
a wall-defined
ET AL
mass,
not
Fig 3. resolution.
Chest
x-ray
E months
after
excision
shows
complete
has not been identified in histological sections, and the theory does not explain why some lesions continue to grow. None of the above theories clearly explain the occurrence of the lesion in our patient. Hyperphosphatemia was only a transient feature, and normal phosphate levels in the parents made an inborn error of metabolism an unlikely etiology. Although serum electrophoresis was not carried out, the incidence of transient microglobulinuria and renal tubular dysfunction may support an immunologic cause. Treatment of the condition to date is complete surgical excision. Inadequate excision in adults has been associated with a high level of recurrence, in patients with and without metabolic disturbances2 Medical treatment using calcitonin, diphosphonates, steroids, and phosphorusrestricted diets have been used in a small number of cases with mixed results.13.14There is one report in the literature of a 6-year-old child successfully treated with a phosphorus- and calcium-restricted diet, whose lesion showed complete resolution after several months.‘l However, such regimes in children bear the risk of causing ricketic bony changes in the immature skeleton. Their only indication may be in adults who present with multiple lesions and an established imbalance in calcium or phosphorus metabolism, in whom surgical excision may not be practical. Our patient demonstrated spontaneous resolution of his lesion after incisional biopsy only. There are no previous reports of this phenomenon in a child. Although definitive excision of tumoral calcinosis is the treatment of choice in adults, an alternative approach of diagnostic biopsy, followed by a period of observation, may be indicated in children, particularly those in whom the site and size of the lesion may make complete excision hazardous.
TUMORAL
CALCINOSIS
1431
REFERENCES 1. Duret MH: Tumeurs multiples et smgulieres des bourses sereuses Bull Sot Ann Paris 74:725-730, 1899 2. Tezelman S, Siperstein AE, Duh QY, et al. Tumoral calcinosis: Controversies in the etiology and alternatives m the treatment. Arch
8. Prince MJ, Schaefer PC, Goldsmith RS, et al: Hyperphosphatemic tumoral calcinosis. Ann Intern Med 96:586-591, 1982 9. Mitnick PD, Goldfarb S. Slatopolsky E, et al. Calcium and phosphate metabolism m tumoral calcinosts. Ann Intern Med 92:482-
Surg 128:737-745,
487,
3. McKee
1993
PH, Liomba NG, Hutt MSR: Tumoral calcmosis: A pathological study of 56 cases. Br J Dermatol 107:669-674, 1982 4. Bostrom B: Tumoral calcinosis in an infant. Am J Dis Child 135:246-247, 1981 5. Heydemann JS. McCarthy RE: Tumoral calcmosis in a child. J Pedtatr Orthop 8:474-477. 1988 6. Baldursson H, Evans EB. Dodge WF. et al: Tumoral calcinosis with hyperphosphatemia-A report of a famdy with incidence in 4 siblings. J Bone Joint Surg 51A:913-925, 1969 7. Lafferty FW, Reynolds ES, Pearson OH: Tumoral calcmosis: A metabolic disease of unknown ettology. Am J Med 38 105-118. 1965
1980
10. Mitnick PD. Goldfarb S, Slatopolslq E, et al: Hyperphosphatemic tumoral calcinosis. Ann Intern Med 96:586-591, 1982 11. Gregosiewicz A, Warda E: Tumoral calcinosis: Successful medical treatment, A case report J Bone Joint Surg 7 1A: 1244-1249, 1989 12. Berg D: Tumour calcinosis. Br J Surg 59:570, 1972 13. Kirk TS, Simon MA: Tumoral calcmosis: Report of a case with successful medical management. J Bone Joint Surg 63A:1167-1169, 1981 14. Mozaffarian G, Lafferty FW, Pearson 0. Treatment of tumoral calcinosis with phosphate deprivation Ann Intern Med 77:741-745, 1972