Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

Rizzo, Renata; Pavone, Lorenzo; Micali, Giuseppe; Nigro, Francesco; Cohen, Michael

doi:10.1002/ajmg.1320470515

Cited by 54 publications

(24 citation statements)

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“…Hotamisligil and Ertogan reported an association with nephrogenic diabetes insipidus [7]. Neurological manifestations consisting of predominantly mental deficits and seizures have also been documented [10,12,15]. Clinically, the differential diagnosis for PS includes Ollier's disease, Maffucci syndrome, and other less well-defined entities, such as encephalocraniocutaneous lipomatosis (ECCL), BannayanZonana syndrome (BZS), Klippel-TrenaunayWeber syndrome (KTWS), and macrodystrophia lipomatosa (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Pathology of Lipomatous Lesions in Proteus Syndrome

Tihan

Okun

1998

Pediatr Dev Pathol

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Proteus syndrome is an extremely rare, complex hamartomatous disorder with markedly variable clinical expression. We present a case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood. The lesions involved predominantly the right side of the body and included scoliosis, macrodactyly, and limited hyperostosis in the right foot. There was no evidence of cranial or skin lesions. The patient underwent multiple resections of soft tissue masses, including an amputation of the right foot because of severe gait disturbance. All specimens exhibited lipomatous lesions that were probably hamartomatous rather than neoplastic. She carried a diagnosis of neurofibromatosis for more than a decade, but a re-evaluation of clinical features and pathological findings prompted the diagnosis of Proteus syndrome. We believe that a more informed evaluation of the pathology material may help to identify this rare entity.

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Section: Discussionmentioning

confidence: 99%

Pathology of Lipomatous Lesions in Proteus Syndrome

Tihan

Okun

1998

Pediatr Dev Pathol

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“…Wiedemann and Burgio [1986] suggested that encephalocraniocutaneous lipomatosis (ECCL) might represent a more localized form of Proteus syndrome. Comparison of individual cases of ECCL [Al-Mefty et al, 1987;McCall et al, 1992;Rizzo et al, 1993] shows a continuum rather than two distinct entities. For example, in ECCL, cutaneous, craniofacial, and meningeal lipomas occur, but cutaneous lipomas below the head and neck and visceral involvement have been found in some cases.…”

Section: Differential Diagnosismentioning

confidence: 97%

Proteus syndrome: An update

Cohen

2005

American J of Med Genetics Pt C

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159

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Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform connective tissue nevi; epidermal nevi; vascular malformations of the capillary, venous, and lymphatic types; and dysregulated adipose tissue. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms. Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis. Although Proteus syndrome data are consistent with this hypothesis, it has not been proven. The etiology is unknown to date. Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common. Finally, evaluation and management are discussed. ß 2005 Wiley-Liss, Inc.

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“…Bannayan-Riley-Ruvalcaba syndrome is characterized by macrocephaly, lipomas, capillary malformations, polyposis of the colon and rectum, pigmented macules of the penis, and Hashimoto thyroiditis [Gorlin et al, 1992]. Wiedemann and Burgio [1986], Cohen [1993], and Rizzo et al [1993] suggested that encephalocraniocutaneous lipomatosis (ECCL) might represent a localized form of Proteus syndrome. Some case reports described hyperostoses of the skull and visceral lipomas, suggesting overlap.…”

Section: Differential Diagnosismentioning

confidence: 99%

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

et al. 1999

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Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these issues, a workshop on Proteus syndrome was held in March 1998 at the National Institutes of Health, and participants developed recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients. This is a review of those recommendations.

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Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

Cited by 54 publications

References 7 publications

Pathology of Lipomatous Lesions in Proteus Syndrome

Pathology of Lipomatous Lesions in Proteus Syndrome

Proteus syndrome: An update

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

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