Idiopathic Carpotarsal Osteolysis With Bartter??s Syndrome

Szöke, George; Tl, Vizkelety; Rényi-Vámos, A; Elek, E

doi:10.1097/00003086-199501000-00020

Cited by 6 publications

(12 citation statements)

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“…Since the initial description by Torg et al [1969], nine similar cases have been described, as summarized in Table II [Eisenstein et al, 1998;Prompt et al, 1978;Sauvegraine et al, 1981;Szoke et al, 1995]. Of note, and given the preponderance and life-threatening nature of associated renal disease in multicentric osteolyses, the affected sibs described here and the patients reported by Torg et al [1969], Sauvegrain et al [1981], and Eisenstein et al [1998] had no evidence of renal dysfunction.…”

Section: Discussionmentioning

confidence: 56%

“…Of note, and given the preponderance and life-threatening nature of associated renal disease in multicentric osteolyses, the affected sibs described here and the patients reported by Torg et al [1969], Sauvegrain et al [1981], and Eisenstein et al [1998] had no evidence of renal dysfunction. In contrast, the patient reported by Prompt et al [1978] had nephropathy, whereas the single patient of Szoke et al [1995] had associated renal involvement in the form of Bartter's syndrome.…”

Section: Discussionmentioning

confidence: 85%

“…In the report by Szoke et al [1995], the 8-year-old girl had a mobile subcutaneous nodule on the arch of her right foot. Biopsy showed fibrocytes and fibroblasts almost exclusively, with myofibroblasts with segmental degeneration.…”

Section: Discussionmentioning

confidence: 99%

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Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

Aqeel

Sewairi

Edress³

et al. 2000

Am. J. Med. Genet.

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The autosomal recessive multicentric osteolytic disorders of childhood-Torg, Winchester, and François syndromes-predominantly affect the carpal, tarsal, and interphalangeal joints, and their progressive bone loss and crippling arthritic deformities mimic severe juvenile rheumatoid arthritis. In a consanguineous Saudi Arabian family two affected sibs with facial anomalies and short stature displayed a distal arthropathy of the metacarpal, metatarsal, and interphalangeal joints starting in the first few months of life that eventually progressed to the proximal joints and resulted in crippling ankylosis and severe generalized osteopenia. Facial changes included proptosis, a narrow nasal bridge, bulbous nose, and micrognathia. In addition, they had large, painful fibrocollagenous palmar and plantar pads and mild body hirsutism. Affected individuals were of normal intelligence and had normal renal function. Routine hematologic, chemistry, and rheumatoid studies were within normal limits. Histologic examination of bone marrow and an interphalangeal joint biopsy were not informative. The autosomal recessive inheritance, clinical, and radiologic characteristics of the affected sibs suggested that they had a form of multicentric osteolysis most closely resembling the Torg syndrome, but with a unique facial appearance, fibrocollagenous pads, and body hirsutism not noted in the original description of the syndrome.

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Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 85%

See 1 more Smart Citation

Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

Aqeel

Sewairi

Edress³

et al. 2000

Am. J. Med. Genet.

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“…Nevertheless, there were three other papers prior to 1991, i.e., Carnevalle et al [7], who reported one family (three patients) with ICTO type I and one patient with type III; Castells et al [16] and Rocco et al [17] described two cases with sporadic disease. After 1991, two families (five patients) with ICTO type I [18, 19] and ten patients with type III [9,10,13,[20][21][22][23][24][25][26] were reported. To our knowledge, 15 families (46 patients) with ICTO type I, three families (10 patients) with type II and 42 patients (including our patients) with type III have been reported to date.…”

Section: Discussionmentioning

confidence: 99%

“…Severe hypertension, proteinuria, hematuria and (Table 3). Szöke et al [20] reported a case of ICTO type III associated with Bartter's syndrome. Fourteen patients (45%) with sporadic disease with nephropathy had renal studies.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic carpotarsal osteolysis with nephropathy

Zagury

Neto

2001

Pediatric Nephrology

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Idiopathic carpotarsal osteolysis is characterized by gradual lysis and resorption of bones, occurring mainly on hands and feet. It may be sporadic or hereditary and either form can manifest renal involvement. Nephropathy is seen more frequently and is more severe in the sporadic form. We present herein two new cases of unrelated boys with the sporadic form associated with nephropathy. One of the patients had focal segmental glomerulosclerosis. The other patient revealed isolated proteinuria.

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Talo‐patello‐scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?

Singh

Williams

McAlister

2003

American J of Med Genetics Pt A

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Osteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal-tarsal osteolysis, Torg, François, Whyte-Hemingway, Hajdu-Cheney, Winchester, and other forms have been described. Most present in pre-school years with extensive involvement and destruction of multiple bones. We present a sister-pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister-pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance.

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Idiopathic Carpotarsal Osteolysis With Bartter??s Syndrome

Cited by 6 publications

References 1 publication

Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

Idiopathic carpotarsal osteolysis with nephropathy

Talo‐patello‐scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?

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