Genetic Transmission of Tumoral Calcinosis: Autosomal Dominant with Variable Clinical Expressivity*

Lyles, Kenneth W.; Burkes, E.Jefferson; Ellis, George; Lucas, Katherine J.; Dolan, Edward A.; Drezner, Marc K.

doi:10.1210/jcem-60-6-1093

Cited by 100 publications

(52 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is therefore not surprising that this condition is observed with greater frequency in patients with systemic disorders in which the "calcium-phosphate" product is elevated, particularly in hyperphosphatemic disorders such as vitamin D intoxication, chronic renal failure, and hyperphosphatemic tumoral calcinosis [4,9,14,25]. The latter disorder appears to be an autosomal dominant disease with variable penetrance, characterized by inappropriately avid renal phosphate retention, inappropriately high serum levels of the hormonal form of vitamin D (1,25-dihydroxyvitamin D), and a unique hypoplastic dental lesion [27,46].…”

Section: Discussionmentioning

confidence: 99%

Tumoral calcinosis-like lesion of the proximal linea aspera

et al. 1990

View full text Add to dashboard Cite

Abstract. Tumoral calcinosis is presently a poorly defined disease. In its classic form, it consists of multiple large foci of benign mineralization in the soft tissuc adjacent to bone near large joints. Patients are generally of African descent and are adolescents or young adults at presentation. Both metabolic and traumatic etiologies have been proposed. We report six adult Caucasian patients with lesions that pathologically resembled tumoral calcinosis. All lesions were small (less than 3 x 3 cm) and were located along the proximal 1inca aspera of the femur. All patients presented with pain. Because of the atypical patient population and the unusual size and location of the lesions, we refer to this process as a "tumoral calcinosis-like lesion." A typical radiographic appearance and location, together with appropriate clinical history, can strongly suggest this diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Tumoral calcinosis-like lesion of the proximal linea aspera

et al. 1990

View full text Add to dashboard Cite

show abstract

“…This previously unreported lesion, consisting of short bulbous roots, pulp stones, and radicular dentin deposited in swirls, is apparently specific to TC. Lyles et a1 also noted that serum 1,254ihydroxyvitamin D levels were elevated in all affected subjects, even those with no other clinical markers of the disorder (14). No firstdegree relatives of our patient were available for examination.…”

mentioning

confidence: 55%

“…Lyles et a1 (14), in a study of 14 of 27 subjects in a kindred, concluded that TC is an autosomal dominant disorder with variable clinical expression. They found a dental lesion in 3 members of the kindred.…”

mentioning

confidence: 99%

Tumoral calcinosis presenting as adhesive capsulitis: case report and literature review

Croock

Silver

1987

Arthritis & Rheumatism

View full text Add to dashboard Cite

Tumoral calcinosis (TC) is an uncommon disorder characterized by large calcific soft tissue deposits, usually adjacent to large joints. In the past, the etiology was unclear, but recently, TC has been considered to be an inherited metabolic disorder, characterized by elevated serum phosphorus and 1,25-dihydroxyvitamin D levels, normocalcemia, and calcific deposits. However, these features have been shown to vary widely, with formes frustes of TC now being recognized. We report an unusual case of TC, which presented as an adhesive capsulitis, in an elderly North American black woman. The patient's nationality, late age of presentation, aad multiple sites of involvement are uncommon features of TC. The clinicopathologic features and possible etiologies of this rare condition are briefly reviewed.Case report. The patient, a 76-year-old North American black woman, presented with a 3-month history of left shoulder and arm pain of insidious onset. No previous shoulder or neck trauma was reported. The pain involved the entire shoulder and upper arm circumference, was constant, and caused increased restriction of all shoulder movement to the point that the patient required assistance in dressing and bathing. Nonsteroidal antiinflammatory drug therapy, prescribed by a family physician who had diag- Physical examination revealed an obese, afebrile,edentulous female with a blood pressure of 160/80 mm Hg, normal pulses, and no evidence of systemic disease. Of note, there was no lymphadenopathy, intrathoracic disease, abdominal visceromegaly , generalized myopathy, or neuropathy.Examination of the left shoulder revealed features of an adhesive capsulitis, with minimal mobility in all ranges of motion tested. Deep palpation around the left shoulder and left thigh, circumferentially, elicited tenderness. There were no abnormalities of the other joints of the arms, nor was there evidence of bicipital tendinitis or carpal tunnel syndrome. Mobility of both hip joints was normal, and straight-leg raising was not limited. The trochanteric bursae were not tender. The provisional clinical diagnosis was adhesive capsulitis of the left shoulder and nonspecific left thigh pain.Laboratory investigations revealed a normal hemoglobin level (13.7 gddl), white blood cell count (5,000/mm3), and platelet count (216,000/mm3). The Westergren erythrocyte sedimentation rate was normal (35 mdhour). Calcium and inorganic phosphorus levels were normal (9.4 mg/dl and 3.8 mg/dl, respectively), thereby excluding overt parathyroid disease

show abstract

“…Dystrophic calcifi cations are more superfi cially located, smaller and unlike Tumoral Calcinosis do not increase in size. About one-third of cases are familial, with both autosomal recessive and autosomal dominant modes of inheritance [4,5]. The primary defect responsible for the metastatic calcification appears to be hyperphosphatemia from the increased capacity of the renal tubule to reabsorb fi ltered phosphate [4,6,15].…”

Section: Discussionmentioning

confidence: 99%

“…The most common laboratory fi ndings are hyperphosphatemia and elevated serum 1,25-dihydroxyvitamin D levels [3,5,6,7]. Serum calcium, parathormone [3,9,10,11] and ALP [8] levels are usually normal.…”

Section: Discussionmentioning

confidence: 99%

Tumoral calcinosis: a case report

et al. 2007

View full text Add to dashboard Cite

Tumoral Calcinosis is a distinct clinical and histological entity that is characterized by large periarticular deposits of calcium resembling a neoplasm and is found foremost in the region of hip, shoulder and elbow. We report a case of Tumoral Calcinosis in a 25-year-old male who presented to us with gradually increasing swelling of right axilla, and both hips of nearly two years duration. It was diagnostic enigma for the treating surgeons but with the help of an astute pathologist we diagnosed this rare condition and successfully treated it surgically. Keywords Case reportA 25-year-old male came to our outdoor with complaints of gradually increasing swelling on both hips and right axilla for last 2 years. Two years back he noticed some restriction of right shoulder joint movement for which he had some massage therapy. Couple of days later he noticed a lump of about 2 inches size in right axilla. About 2 weeks later he noticed two similar lumps on the sides of both hip joints. As these swellings were gradually increasing in size he sought local medical help and treating physician thought it to be chronic abscesses and did I & D of these swellings. Since then thick chalky white discharge used to come.Examination revealed three lumps, one in axilla of about 3 x 2 inches, fi rm in consistency, nontender, nonmobile with ulcerated surface, fl oor of which was covered with chalkywhite exudates. Two hip masses were about 5 x 3 inches with similar characteristics as that of axillary lump. There were no other signifi cant clinical fi ndings.Investigation revealed normal hemoglobin, normal total and differential count and normal routine urine. Renal function was normal. Plain X-ray of both hips and axilla revealed spotty calcifi cation in periarticular soft tissues. Serum calcium was 8.4 mg/dL and inorganic phosphorus 4.2 mg/dL. Serum parathormone level was normal. Histopathology showed diffuse and extensive areas of spotty calcifi cation and fi brocollagenous tissue interspersed with macrophages and mixed infl ammatory cell infi ltrate, appearance suggestive of Tumoral Calcinosis. Chemical analysis showed Calcium Phosphate crystals. Diagnosis of Tumoral Calcinosis was thus made. We performed complete excision of these lumps in 2 settings and patient is doing fi ne postoperatively. We will follow him up 3 monthly for any evidence of recurrence.

show abstract

Genetic Transmission of Tumoral Calcinosis: Autosomal Dominant with Variable Clinical Expressivity*

Cited by 100 publications

References 13 publications

Tumoral calcinosis-like lesion of the proximal linea aspera

Tumoral calcinosis-like lesion of the proximal linea aspera

Tumoral calcinosis presenting as adhesive capsulitis: case report and literature review

Tumoral calcinosis: a case report

Contact Info

Product

Resources

About