proteus syndrome

Summary

Summary: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Top Publications

  1. Redondo P. [Vascular malformations (I). Concept, classification, pathogenesis and clinical features]. Actas Dermosifiliogr. 2007;98:141-58 pubmed
    ..Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed...
  2. Hoey S, Eastwood D, Monsell F, Kangesu L, Harper J, Sebire N. Histopathological features of Proteus syndrome. Clin Exp Dermatol. 2008;33:234-8 pubmed publisher
    b>Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology...
  3. Cardoso M, de Carvalho T, Casulari L, Ferrari I. Proteus syndrome and somatic mosaicism of the chromosome 16. Panminerva Med. 2003;45:267-71 pubmed
    ..with a structural chromosome 16 anomaly in mosaic distribution with the phenotypic characteristics of the Proteus syndrome. This is the 1st report showing that the Proteus syndrome may be associated with a chromosome 16 anomaly; ..
  4. Joshi U, van der Sluijs J, Teule G, Pijpers R. Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning. Clin Nucl Med. 2005;30:604-5 pubmed
    b>Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern...
  5. Sheard R, Pope F, Snead M. A novel ophthalmic presentation of the Proteus syndrome. Ophthalmology. 2002;109:1192-5 pubmed
    To report a patient with the Proteus syndrome who had ocular complications not previously described in the literature.
  6. Müller E, Lichtendahl D, Hofer S. Proteus syndrome in adulthood. Ann Plast Surg. 2002;48:197-201 pubmed
    b>Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983...
  7. Becktor K, Becktor J, Karnes P, Keller E. Craniofacial and dental manifestations of Proteus syndrome: a case report. Cleft Palate Craniofac J. 2002;39:233-45 pubmed
    The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face...
  8. Waite K, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002;70:829-44 pubmed
    ..macrocephaly, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include Proteus syndrome and Proteus-like syndromes...
  9. Nguyen D, Turner J, Olsen C, Biesecker L, Darling T. Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol. 2004;140:947-53 pubmed
    b>Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues.

More Information

Publications87

  1. Happle R. The manifold faces of proteus syndrome. Arch Dermatol. 2004;140:1001-2 pubmed
  2. Biesecker L, Peters K, Darling T, Choyke P, Hill S, Schimke N, et al. Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. Am J Med Genet. 1998;79:311-8 pubmed
    b>Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems...
  3. Jamis Dow C, Turner J, Biesecker L, Choyke P. Radiologic manifestations of Proteus syndrome. Radiographics. 2004;24:1051-68 pubmed
    b>Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer...
  4. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. 2006;14:1151-7 pubmed
    b>Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body...
  5. Cohen M. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet. 2005;137C:38-52 pubmed
    b>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; ..
  6. Lindhurst M, Sapp J, Teer J, Johnston J, Finn E, Peters K, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011;365:611-9 pubmed publisher
    The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state...
  7. Cohen M, Turner J, Biesecker L. Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A. 2003;122A:323-4 pubmed
  8. Turner J, Cohen M, Biesecker L. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A. 2004;130A:111-22 pubmed
    ..In our experience, the rate of misdiagnosis in Proteus syndrome (PS) is high...
  9. Trivedi D, Lee S, Brundler M, Parulekar M. Fibrous tumor of the superior oblique tendon in Proteus syndrome. J AAPOS. 2013;17:420-2 pubmed publisher
    b>Proteus syndrome is a disorder of patchy, or mosaic, postnatal overgrowth. Mosaic somatic mutation of the AKT1 gene has been identified in over 90% of individuals meeting the diagnostic criteria for Proteus syndrome...
  10. Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003;22:183-98 pubmed
    ..occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL)...
  11. Turner J, Biesecker B, Leib J, Biesecker L, Peters K. Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A. 2007;143A:2089-97 pubmed
    ..The purpose of this study was to investigate the courtesy stigma experiences of parents of children with Proteus syndrome (PS) and related overgrowth conditions...
  12. Biesecker L. The multifaceted challenges of Proteus syndrome. JAMA. 2001;285:2240-3 pubmed
    b>Proteus syndrome is a rare and sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern...
  13. Pradhan A, Sen I, Batra Y, Biswas G. Proteus syndrome: a concern for the anesthesiologist. Anesth Analg. 2003;96:915-6 pubmed
  14. Thiffault I, Schwartz C, Der Kaloustian V, Foulkes W. Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet A. 2004;130A:123-7 pubmed
    b>Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis...
  15. Furquim I, Honjo R, Bae R, Andrade W, Santos M, Tannuri U, et al. Proteus syndrome: report of a case with recurrent abdominal lipomatosis. J Pediatr Surg. 2009;44:E1-3 pubmed publisher
    b>Proteus syndrome (PS) is an extremely rare congenital hamartomatous syndrome that was first delineated by Cohen and Hayden (1). The estimated prevalence is less than 1 per 1,000,000 live births (2)...
  16. Schepis C, Greco D, Siragusa M, Romano C. Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome. Int J Dermatol. 2008;47:374-6 pubmed publisher
  17. Happle R. Type 2 segmental Cowden disease vs. Proteus syndrome. Br J Dermatol. 2007;156:1089-90 pubmed
  18. Lublin M, Schwartzentruber D, Lukish J, Chester C, Biesecker L, Newman K. Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg. 2002;37:1013-20 pubmed
    b>Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi...
  19. Satter E. Proteus syndrome: 2 case reports and a review of the literature. Cutis. 2007;80:297-302 pubmed
    b>Proteus syndrome is a rare condition that has a variable clinical presentation. The syndrome is characterized by asymmetric disproportionate enlargement of the limbs, skull, or vertebrae, associated with a number of cutaneous lesions...
  20. Smith J, Kirk E, Theodosopoulos G, Marshall G, Walker J, Rogers M, et al. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet. 2002;39:937-40 pubmed
  21. Hoeger P, Martinez A, Maerker J, Harper J. Vascular anomalies in Proteus syndrome. Clin Exp Dermatol. 2004;29:222-30 pubmed
    b>Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcutaneous tumours and various bone, cutaneous and/or vascular anomalies (VA)...
  22. Sanchez López M, Martinez Fernandez R, Santamaría Carro A. [Ocular manifestations in Proteus syndrome]. Arch Soc Esp Oftalmol. 2007;82:175-8 pubmed
    ..Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia...
  23. Yilmaz A, Hamel N, Schwartz C, Houlston R, Harper J, Foulkes W. A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays. J Hum Genet. 2010;55:627-30 pubmed publisher
    ..We present results of a genome-wide scan for LOH and CNV in Proteus syndrome (PS), a severely disfiguring overgrowth syndrome...
  24. Loffeld A, McLellan N, Cole T, Payne S, Fricker D, Moss C. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. Br J Dermatol. 2006;154:1194-8 pubmed
    A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome...
  25. Irion K, Hocchegger B, Marchiori E, Holemans J, Smith R, Raja R, et al. Proteus syndrome: high-resolution CT and CT pulmonary densitovolumetry findings. J Thorac Imaging. 2009;24:45-8 pubmed publisher
    Cystic transformation of the lungs in Proteus syndrome is considered an important manifestation of this disease. We describe a case of an 11-year-old girl with a diagnosis of Proteus syndrome with lung involvement...
  26. Beachkofsky T, Sapp J, Biesecker L, Darling T. Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol. 2010;63:799-804 pubmed publisher
    b>Proteus syndrome is a rare overgrowth disorder that almost always affects the skin. Our purpose was to evaluate progression of skin lesions in patients with Proteus syndrome...
  27. Keppler Noreuil K, Lozier J, Sapp J, Biesecker L. Characterization of thrombosis in patients with Proteus syndrome. Am J Med Genet A. 2017;173:2359-2365 pubmed publisher
    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism...
  28. Pazzaglia U, Beluffi G, Bonaspetti G, Ranchetti F. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. Pediatr Radiol. 2007;37:829-35 pubmed
    The radiographic follow-up of a patient with Proteus syndrome is presented...
  29. Izu R, Gardeazabal J, Bejar J, Aguirre A, Diaz Perez J. A case of the elephant man phenotype with giant rhinophyma and benign symmetric lipomatosis. Clin Exp Dermatol. 1994;19:531-3 pubmed
    ..His physical appearance had isolated him from the rest of society and was probably the main reason for his alcohol abuse...
  30. Barmakian J, Posner M, Silver L, Lehman W, Vine D. Proteus syndrome. J Hand Surg Am. 1992;17:32-4 pubmed
    b>Proteus syndrome is a rare congenital disorder that is characterized by a wide variety of deformities including macrodactyly...
  31. Zhou X, Hampel H, Roggenbuck J, Saba N, Prior T, Eng C. A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. J Mol Diagn. 2002;4:114-7 pubmed
    ..Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN. ..
  32. Turner H. Parental preference or child well-being: an ethical dilemma. J Pediatr Nurs. 2010;25:58-63 pubmed publisher
    ..Review of the child's medical condition, patient/parent preferences, quality of life, and contextual features will be followed by an analysis and recommendations for resolution of this challenging situation. ..
  33. Legendre C, Charpentier Côté C, Drouin R, Bouffard C. Neurofibromatosis type 1 and the "elephant man's" disease: the confusion persists: an ethnographic study. PLoS ONE. 2011;6:e16409 pubmed publisher
    ..geneticists had demonstrated that Joseph Merrick, better known as the Elephant Man, suffered from the Proteus syndrome and not from neurofibromatosis type 1 (NF1), as was alleged by dermatologist Parkes in 1909...
  34. Lindhurst M, Yourick M, Yu Y, Savage R, Ferrari D, Biesecker L. Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome. Sci Rep. 2015;5:17162 pubmed publisher
    ..in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. ARQ 092 is an allosteric pan-AKT inhibitor under development for treatment in cancer...
  35. Sarma N, Malakar S, Lahiri K. Unilateral proteus syndrome. Indian J Dermatol Venereol Leprol. 2005;71:122-4 pubmed
    b>Proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes...
  36. Zusan E, Smith J, Parker T. Proteus syndrome: a case report. Am Surg. 2009;75:853-6 pubmed
    b>Proteus syndrome is a rare, sporadically occurring hamartomatous disorder with complex multisystem involvement and wide clinical variability...
  37. Flores Sarnat L, Sarnat H. Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy. Handb Clin Neurol. 2015;132:9-25 pubmed publisher
    ..Timing of the mutation determines phenotype and severity. Proteus syndrome is a neurological phenotype of epidermal keratinocytic nevus syndrome not an independent, separate syndrome.
  38. Miura H, Uchida Y, Ihara K, Sugioka Y. Macrodactyly in Proteus syndrome. J Hand Surg Br. 1993;18:308-9 pubmed
    A case of Proteus syndrome in a 13-year-old boy with macrodactyly, hemihypertrophy, exostosis of the skull, epidermal naevi, palmar and plantar masses, and scoliosis is reported...
  39. Luo S, Feng Y, Zheng Y, Peng Z, Wang J, Wang G. Mild and delayed-onset Proteus syndrome. Eur J Dermatol. 2007;17:172-3 pubmed
  40. White N, Cochrane D, Beauchamp R. Paraparesis caused by an angiolipomatous hamartoma in an adolescent with Proteus syndrome and scoliosis. J Neurosurg. 2005;103:282-4 pubmed
    This 16-year-old boy with Proteus syndrome suffered acute spinal cord compression secondary to hemorrhage into an extradural paraspinal angiolipomatous hamartoma...
  41. Macedo A, Ottoni S, Barroso U, Ortiz V. Bladder hemangiomas and Proteus syndrome: a rare clinical association. J Pediatr Urol. 2010;6:429-31 pubmed publisher
    A case of bladder hemangiomas in association with Proteus syndrome (PS) is described...
  42. Manquillo A, Martínez Mena J, Quintana P, Paradinas F, Saez J, Revilla C, et al. [Neurophysiological aspects of Proteus syndrome]. Rev Neurol. 1997;25:1572-4 pubmed
    The Proteus Syndrome was defined in 1983 by Wiedeman. However, the first case mentioned in the literature was that of Joseph Merrick, the Elephant Man, presented by Sir Frederick Treves in 1884. It is a rare pathological condition...
  43. Smrkolj S, Sorc L, Sinkovec J, Rakar S. Müllerian papilloma in a patient with Proteus syndrome: case report and review of the literature. Eur J Gynaecol Oncol. 2012;33:428-32 pubmed
    ..A 19-year-old girl with Proteus syndrome presented with vaginal bleeding...
  44. Kirkorian A, Grossberg A, Puttgen K. Genetic basis for vascular anomalies. Semin Cutan Med Surg. 2016;35:128-36 pubmed publisher
    ..malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous ..
  45. Nelson A, Ruben B. Isolated plantar collagenoma not associated with Proteus syndrome. J Am Acad Dermatol. 2008;58:497-9 pubmed publisher
    ..They have been suggested to be pathognomonic of Proteus syndrome. However, their presence is now considered to be a major criterion of Proteus syndrome, but the diagnosis of ..
  46. Gehlen J, van Gemert W, De Haan M, Baeten C. Severe anal bleeding in Proteus syndrome: a case report. Tech Coloproctol. 2007;11:158-60 pubmed
    b>Proteus syndrome was originally described by Cohen and Hayden in 1979. The disorder was named Proteus syndrome by Wiedmann and colleagues in 1983 after Proteus, the giant Greek god of the sea...
  47. Yosunkaya Fenerci E, Degirmenci S, Yesil G, Yuksel A. Proteus syndrome with agenesis of the rectus abdominis. Br J Dermatol. 2006;155:1094-5 pubmed
  48. Virgone C, Alaggio R, Dall Igna P, Buffa P, Tonegatti L, Ferrari A, et al. Epithelial Tumors of the Ovary in Children and Teenagers: A Prospective Study from the Italian TREP Project. J Pediatr Adolesc Gynecol. 2015;28:441-6 pubmed publisher
    ..Fifteen of 16 patients maintained the complete remission after surgical treatment alone; 1 affected by Proteus syndrome died consequent to the progression of a synchronous Wilms tumor, after a delayed incomplete surgery...
  49. Yamamoto A, Kikuchi Y, Yuzurihara M, Kubota M, O uchi T. A case of Proteus syndrome with severe spinal canal stenosis, scoliosis, and thoracic deformity associated with tethered cord. Jpn J Radiol. 2012;30:336-9 pubmed publisher
    b>Proteus syndrome is a rare, sporadic, hamartomatous disorder manifesting with multifocal overgrowth of tissue. The features seem to develop most often during childhood...
  50. Takebayashi T, Yamashita T, Yokogushi K, Yokozawa H, Cavanaugh J. Scoliosis in Proteus syndrome: case report. Spine (Phila Pa 1976). 2001;26:E395-8 pubmed
    The case of patient with scoliosis based on a rare hamartomatous, Proteus syndrome, is reported.
  51. Yasuda H, Yamamoto O, Hirokawa H, Asahi M, Kashimura M, Sakai A. Proteus syndrome. Dermatology. 2001;203:180-4 pubmed
    A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised...
  52. Enjolras O, Chapot R, Merland J. Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B. 2004;13:349-57 pubmed
    ..Capillary malformations can be effectively treated with pulsed dye laser, but results are usually poor in distal extremities...
  53. Loffeld A, McLellan N, Cole T, Moss C. Type 2 segmental Cowden disease vs. Proteus syndrome: reply from authors. Br J Dermatol. 2008;158:410-1 pubmed
  54. Casanova D, Chabas J, Salazard B. [Macrodactylies of the hand and foot]. Chir Main. 2008;27 Suppl 1:S178-84 pubmed publisher
    ..Epiphyseal arrest, bulk reduction procedures, finger shortening, lateral closing-wedge osteotomies or stripping of the nerves can be performed in the other cases...
  55. Ali A, Al Najjadah I. Surgical treatment of an unusual patient with Proteus syndrome. J Craniofac Surg. 2006;17:175-8 pubmed
  56. Demir M. Case 131: Proteus syndrome. Radiology. 2008;246:974-9 pubmed publisher
  57. Lindhurst M, Wang J, Bloomhardt H, Witkowski A, Singh L, Bick D, et al. AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. J Invest Dermatol. 2014;134:543-546 pubmed publisher
  58. Hook K. Cutaneous vascular anomalies in the neonatal period. Semin Perinatol. 2013;37:40-8 pubmed publisher
    ..Location and type of birthmark can provide signals that extracutaneous involvement may be a concern. This article provides a baseline framework that can help diagnose, define associations and guide workup and treatment in these neonates...
  59. Thomason J, Abramowsky C, Rickets R, Culbertson J, Clifton M, Shehata B. Proteus syndrome: three case reports with a review of the literature. Fetal Pediatr Pathol. 2012;31:145-53 pubmed publisher
    b>Proteus syndrome (PS) is a rare, progressive disorder that manifests as asymmetric, disproportionate overgrowth affecting tissues derived from any germline layer...
  60. Abbo O, Bouali O, Galinier P, Moscovici J. [Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria]. Prog Urol. 2012;22:132-5 pubmed publisher
    b>Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi...
  61. Adolphs N, Menneking H, Hoffmeister B, Tinschert S. Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria. J Craniofac Surg. 2011;22:2135-40 pubmed publisher
    ..Although the craniofacial hyperostosis in the patient was indicative of the Proteus syndrome, the applicable criteria were not met...
  62. Sugarman J. Epidermal nevus syndromes. Semin Cutan Med Surg. 2007;26:221-30 pubmed publisher
    ..Several subsets with characteristic features have been delineated including the nevus sebaceous syndrome, Proteus syndrome, CHILD syndrome, Becker nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica...
  63. Salinas C, Nuyen B, Jafari A, Nation J. Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome. Int J Pediatr Otorhinolaryngol. 2017;95:114-116 pubmed publisher
    b>Proteus Syndrome (PS) is a rare congenital overgrowth disease affecting bones, skin, adipose and the central nervous system...
  64. Ravin J. Sir Frederick Treves and sympathetic ophthalmia. Arch Ophthalmol. 2004;122:99-103 pubmed
  65. Ahmetoglu A, Isik Y, Aynaci O, Bahadir S, Aynaci F. Proteus syndrome associated with liver involvement: case report. Genet Couns. 2003;14:221-6 pubmed
    We report a patient with proteus syndrome who has epidermal nevus, right-sided asymmetric growth of extremities, pelvis, vertebrae and hemimegalencephaly...
  66. Happle R, Steijlen P, Theile U, Karitzky D, Tinschert S, Albrecht Nebe H, et al. Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol. 1997;133:77-80 pubmed
    The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, ..
  67. Raju R, Hart W, Magnuson D, Reid J, Rogers D. Genital tract tumors in Proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature. Mod Pathol. 2002;15:172-80 pubmed
    b>Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern...
  68. Sapp J, Turner J, van de Kamp J, van Dijk F, Lowry R, Biesecker L. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007;143A:2944-58 pubmed
    We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome...
  69. Kaduthodil M, Prasad D, Lowe A, Punekar A, Yeung S, Kay C. Imaging manifestations in Proteus syndrome: an unusual multisystem developmental disorder. Br J Radiol. 2012;85:e793-9 pubmed publisher
    ..Our aim is to enhance recognition of the typical imaging findings, which can aid diagnosis of this rare condition...
  70. Wang Z, Su Y, Yang H, Yu Z, Cao L, Zhao X, et al. [Proteus syndrome with a giant hemangiomas in the spleen associated with chronic DIC--two case report and literature review]. Zhonghua Xue Ye Xue Za Zhi. 2007;28:152-5 pubmed
    To investigate the clinical manifestations, pathologic features and laboratory findings in two Proteus syndrome patients with giant hemangiomas in the spleen and chronic DIC.
  71. Mohamedbhai A, Hassan Miyan A, Lacombe D. Neonatal Proteus syndrome?. Am J Med Genet. 2002;112:228-30 pubmed
  72. Yazar T, Cebesoy O, Basarir K, Karadeniz E. Recalcitrant scoliosis in Proteus syndrome. Acta Orthop Belg. 2005;71:372-4 pubmed
    b>Proteus syndrome is a rare congenital condition with various clinical features such as hemihypertrophy, macrodactyly, subcutaneous masses, brain-like hyperplasia of the soles and/or palms, epidermal naevi and scoliosis with other ..
  73. van Aalst J, Phillips J, Sadove A. Pediatric chest wall and breast deformities. Plast Reconstr Surg. 2009;124:38e-49e pubmed publisher
  74. Cross J. Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. Epilepsia. 2005;46 Suppl 10:17-23 pubmed
    ..Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low; in addition, a greater proportion may be easier to treat with medication...
  75. Gustafson S, Zbuk K, Scacheri C, Eng C. Cowden syndrome. Semin Oncol. 2007;34:428-34 pubmed
    ..These disorders include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome (PSL)...
  76. Almeida H, Fiss R, Happle R. Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome. An Bras Dermatol. 2011;86:557-9 pubmed
    The Proteus syndrome was described 1983 . It has asymmetric gigantism of the limbs, verrucous epidermal naevi, cerebriform enlargement of the plantar region, vascular malformations and neoplasms, as lipomas...
  77. Nakayama Y, Kusuda S, Nagata N, Yamaguchi K. Excision of a large abdominal wall lipoma improved bowel passage in a Proteus syndrome patient. World J Gastroenterol. 2009;15:3312-4 pubmed
    b>Proteus syndrome is an extremely rare congenital disorder that produces multifocal overgrowth of tissue. This report presents a surgical case of a large lipoma in the abdominal wall of a patient with Proteus syndrome...
  78. Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46:721-9 pubmed publisher
    ..It has repeatedly been discussed as a localised form of Proteus syndrome. In 2006, the first large series of patients was reported, and diagnostic criteria were proposed.