Proteus syndrome: Diagnosis and surgical management

Vaughn, Rebecca Y.; Selinger, A.D.; Howell, Charles G.; Parrish, Robert A.; Edgerton, Milton T.

doi:10.1016/s0022-3468(05)80344-6

Cited by 41 publications

(19 citation statements)

References 23 publications

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“…The presence of a subcutaneous vascular low flow lesion (formerly called cavernous hemangioma) would be consistent with reported findings in M-CMTC, though this child's visceral hemangioma is the first reported in M-CMTC. This child does not exhibit macrodactyly, bony lesions, nor the palmar or plantar hyperplasia seen in Proteus syndrome [Vaughn et al, 1993] and furthermore shows brain dysgenesis and developmental delay not usually seen in Proteus syndrome. The brain dysgenesis visu- alized on MRI is consistent with previous reports in M-CMTC, but is more extensive, and suggests that dysplasia of the brain is the cause of developmental delay in M-CMTC.…”

Section: Discussionmentioning

confidence: 75%

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita

et al. 1998

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We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype.

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Section: Discussionmentioning

confidence: 75%

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita

et al. 1998

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“…Proteus syndrome is considered a congenital hamartomatosis that affects the three germ layers and results in excessive tissue growth (3,5). An example is John Merrick, "the elephant man."…”

Section: Discussionmentioning

confidence: 99%

Proteus Syndrome: New Findings in Seven Patients

Barona-Mazuera¹,

Hidalgo-Galván²,

Orozco-Covarrubias³

et al. 1997

Pediatric Dermatology

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Seven children with Proteus syndrome (PS) are reported. The majority of clinical findings coincide with what is reported in the literature. New findings were blue sclerae, telecanthus, epiblepharon, endotropy, hemimegaly of the optic nerve, occipital dysmyelination and compression of the corpus callosum, craneosynostosis, decalcification and thinning of the cortical layer of long bones, and talipes equinus. The clinical findings, possible etiology, differential diagnosis, and treatment of PS are discussed.

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“…However, only a few reports have been found in the literature with a comparably severe manifestation (Vaughn et al, 1993;Tattelbaum and Dufresne, 1995;Pinto et al, 1998;Gilbert-Barness et al, 2000;Becktor et al, 2002). The time of onset of hyperostosis is known to be variable but most of the manifestations occur during the first year of life (Tattelbaum and Dufresne, 1995).…”

Section: Article In Pressmentioning

confidence: 99%

“…As this syndrome is progressive in character, the craniofacial distortion typically increases with age. Therefore, early corrective procedures help to improve normal development and improve quality of life (Vaughn et al, 1993;GilbertBarness et al, 2000). Simple corrective procedures might be performed in early life.…”

Section: Article In Pressmentioning

confidence: 99%