The elephant man did not have neurofibromatosis.
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (solamen) syndrome is related to mosaic PTEN nullizygosity. 2007 448:439-44.Ĭaux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, Gerard M, Longy M. A transforming mutation in the pleckstrin homology domain of akt1 in cancer. 1998 79:311-8.Ĭarpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE. 2010 63:799-804.īiesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, Cunningham M, Meltzer P, Cohen MM., Jr Clinical differentiation between Proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia. Progressive overgrowth of the cerebriform connective tissue nevus in patients with proteus syndrome. All rights reserved.īeachkofsky TM, Sapp JC, Biesecker LG, Darling TN. GeneReviews is a registered trademark of the University of Washington, Seattle. Because Proteus syndrome is not inherited, prenatal testing is not indicated.Ĭopyright © 1993-2021, University of Washington, Seattle. Thus, the risks to the parents of an affected child and to affected persons who do reproduce are not increased compared to the general population. There is no known risk to offspring of an affected individual however, the number of affected individuals who have reproduced is very small. It is hypothesized that a non-mosaic (i.e., germline) AKT1 c.49G>A pathogenic variant would be lethal in early development. Surveillance: Monitoring should be tailored to individual presentation routine monitoring for evidence of tumor development is by medical history and physical examination periodic imaging is not indicated.Īgents/circumstances to avoid: Medications that increase the risk of deep vein thrombosis or are procoagulant medications that increase growth (e.g., androgenic steroids or growth hormone).Īll individuals with clinically confirmed Proteus syndrome known to these authors have been simplex occurrences caused by somatic mosaicism for the specific de novo pathogenic variant c.49G>A (p.Glu17Lys).
PROTEUS SYNDROME SKIN
Treatment of manifestations: Management of overgrowth is the chief concern the approaches are diverse and include various orthopedic procedures to delay or halt linear bone growth rehabilitation medicine care including physical and occupational therapy correction of skeletal deformities such as scoliosis dermatologic management of the skin manifestations, especially the cerebriform connective tissue nevi with pedorthic intervention as needed monitoring for and treating deep vein thrombosis and pulmonary embolism monitoring and treating bullous pulmonary disease developmental intervention or special education for developmental delays psychosocial counseling is warranted in most instances. Identification of a mosaic, somatic, heterozygous pathogenic variant in AKT1 by molecular genetic testing can establish the diagnosis if the clinical criteria are inconclusive. The diagnosis of Proteus syndrome is based on clinical criteria that include all three general characteristics (mosaic distribution of lesions, sporadic occurrence, progressive course) and additional specific clinical criteria.
It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.