Pérez SE, Concepción N, Terrero MM, Rodríguez NZ, Torres MA

Language: Spanish
References: 14
Page: 563-568
PDF size: 211.63 Kb.

ABSTRACT

Proteus syndrome is a rare and complex genetic disorder characterized by sporadic occurrence, mosaic distribution and gradual evolution of hamartomatous lesions, affecting most of the mesodermal tissues. Diagnosis is performed on clinical basis and according to well-established criteria. A typical case of an 8-year-old schoolchild with clinical manifestations consistent with the diagnosis of this syndrome is presented. A clinical study and description of the body habitus was conducted. The main distinctive features were: progressive hemihypertrophy of the gluteal region, left leg and foot, flat hemangioma and dilatation of hypogastric veins in the abdomen, dorso-lumbar scoliosis and marked dorsal kyphosis, increased adipose tissue in the back, cerebriform aspect of the skin of the sole of the left foot as well as hyperostosis of the mastoid bone. This case is presented due to the rarity of the entity.

REFERENCES

1. Guerra Tapia A, Rodríguez Vázquez M. Síndrome de Proteo. Piel. 2001 ; 16 (5): 248-52.

2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Eur J Pediatr. 1983 ; 140: 5-12.

3. Redondo P. Malformaciones vasculares (I). Concepto, clasificación, fisiopatogenia y manifestaciones clínicas. Actas Dermosifiliogr. 2007 ; 98 (3): 141-58.

4. Schnake Ch, Vejar L, Solar M, Ibanez R, Lacassie Y. Síndrome Proteus: Contribución a su delineación clínica. Rev Chil Pediatr. 1986 ; 57 (6): 585-94.

5. Sánchez López M, Martínez Fernández R, Santamaría Carro A. Manifestaciones oculares en el síndrome de Proteus. Arch Soc Esp Oftalmol. 2007 ; 82 (3): 175-8.

6. Capurro NJ, Carignano AM, Ottino A. Proliferación fibrosa cerebriforme, correlación con el síndrome de Proteus. Patología. 2008 ; 46 (4): 351-4.

7. Fernández Mayoralas M, Fernández Jaén A, Calleja Pérez B, Muñoz Jareño N. Enfermedades neurocutáneas. JANO [revista en Internet]. 2007 [ cited 22 Oct 2011 ] ; 1: [aprox. 6p]. Available f r o m : http://www.jano.es/ficheros/sumarios/1/0/1667/8 7/00870091-LR.pdf.

8. Bennàsar A, Ferrando J. Síndromes de neoplasias múltiples familiares con manifestaciones cutáneas. Med Cutan Iber Lat Am. 2009 ; 37 (2): 71-8.

9. Costa T, Fitch N, Azouz EM. Proteus syndrome: report of two cases with pelvic lipomatosis. Pediatrics. 1985 ; 76 (6): 984-9.

10. Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Proteus syndrome: an expended phenotype. Am J Med Genet. 1987 ; 27 (1): 99-117.

11. Samlaska CP, Levin SW, James WD, Benson PM, Walker JC, Perlik PC. Proteus syndrome. Arch Dermatol. 1989 ; 125 (8): 1109-14.

12. Sayama K, Hato N, Matsuda O, Shiraishi S, Miki Y. Proteus syndrome. Dermatology. 1994 ; 189 (4): 392-5.

13. Hotamisligil GS. Proteus syndrome and hamartoses with overgrowth. Dysmorphol Clin Genet. 1990 ; 4: 87-102.

14. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM, Viljoen DL, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999 ; 84 (5): 389-95.