Disseminated Nonossifying Fibromas in Association with Caf??-au-lait Spots (Jaffe-Campanacci Syndrome)

Mirra, Joseph M.; Gold, Richard H.; Rand, Frank

doi:10.1097/00003086-198208000-00036

Cited by 86 publications

(56 citation statements)

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“…Jaffe-Campanacci syndrome was first described in 1958 by Jaffe and then again in 1978 by Campanacci [Jaffe, 1958;Mirra et al, 1982]. In 1982, Mirra presented an additional case and suggested the name Jaffe-Campanacci syndrome [Mirra et al, 1982].…”

Section: Discussionmentioning

confidence: 98%

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Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1?

Colby

Saul

2003

American J of Med Genetics Pt A

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This article describes four patients with non-ossifying fibromas (NOFs) and multiple café-au-lait spots. Two of the patients were diagnosed with NOFs when they presented with a femur fracture. The other two patients were diagnosed with NOFs because of complaints of leg problems. In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients. These four patients fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1) and also have been diagnosed with Jaffe-Campanacci syndrome. We propose that Jaffe-Campanacci syndrome is a manifestation of NF1 and suggest that patients with NF1 should have more rigorous radiographic screening of the long bones during early adolescence or adulthood to determine the presence or absence of NOFs. Appropriate intervention (exercise restriction, bracing, and/or surgery) might decrease the long-term disability associated with Jaffe-Campanacci syndrome.

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Section: Discussionmentioning

confidence: 98%

“…Jaffe-Campanacci syndrome was first described in 1958 by Jaffe and later in 1978 by Campanacci [Jaffe, 1958;Mirra et al, 1982]. The syndrome is characterized by non-ossifying fibromas (NOFs) of the bones and café-au-lait spots.…”

Section: Introductionmentioning

confidence: 99%

Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1?

Colby

Saul

2003

American J of Med Genetics Pt A

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“…Axillary freckling, a specific finding in NF1, has also been reported in some patients with JCS. 1,19 Since accurate diagnosis is essential to ensure appropriate medical management and genetic counseling, we recommend the clinical algorithm outlined in Figure 1 to be followed for patients presenting with multiple NOFs and/or giant cell lesions. The algorithm is derived from our data, which supports the hypothesis that JCS is frequently a manifestation of NF1.…”

Section: Discussionmentioning

confidence: 99%

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Stewart

Brems

Gomes

et al. 2014

Genetics in Medicine

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“…Until now 20 cases (6 girls, 14 boys), ranging in age from 4-18 years, have been published (1 case by Mirra et al, [3] 10 cases by Campanacci et al, [1] 1 case by Steinmetz et al, [4] 1 case by Kotzot et al, [5] 1 case by Boivin et al, [6] 1 case by Hau et al, [7] 4 cases by Colby and Saul, [8] and 1 case by Al-Rikabi et al [9] ). Originally described extraskeletal anomalies included café-au-lait spots, mental retardation, urogenital anomalies, ocular anomalies, cardiovascular malformations, kyphoscoliosis, and precocious puberty.…”

Section: Discussionmentioning

confidence: 99%