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ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2016, Number 2

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Rev Mex Ortop Ped 2016; 18 (2)

Multiple hemi-hyperplastic lipomatosis of the lower extremity. Presentation of a clinical case

Coral CJR, Capdevila LR, Haces GF

Language: Spanish
References: 14
Page: 105-109
PDF size: 218.74 Kb.


ABSTRACT

Multiple lipomatosis is a rare entity with a slow and progressive nature and an unknown etiology. The objective of this paper is to present a case and review the literature. This is the case of a 16 year old girl who was worked up for gigantism of the left pelvic extremity since birth. The accelerated growth led to a diagnosis of diffuse lipomatosis of the extremity. This was considered a psicosocial problem and mild depression was diagnosed along with severe self esteem problems. A hip disarticulation was performed along with a remodeling of the ilium and acetabulum. A prosthetic leg was fitted and function was excellent.


REFERENCES

  1. Biesecker LG, Peters KF, Darling TN, 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: 311-318.

  2. Dalal AB, Phadke SR, Pradhan M, Sharda S. Hemihyperplasia syndromes. Indian J Pediatr. 2006; 73: 605-615.

  3. Lee MS, Lee MH, Hur KB. Multiple symmetric lipomatosis. J Korean Med Sci. 1988; 3(4): 163-167.

  4. Kurzweg FT, Spencer R. Familial multiple lipomatosis. Am J Surg. 1951; 82(6): 762-765.

  5. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999; 84: 389-395.

  6. Turner JT, Cohen MM, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A. 2004; 130: 111-122.

  7. Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet. 2007; 44: 579-585.

  8. Miles JH, Zonana J, McFarlane J, Aleck KA, Bawle E. Macrocephaly with hamartomas: Bannayan-Zonana syndrome. Am J Med Genet. 1980; 19(2): 225-234.

  9. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008; 60(2): 217-223.

  10. Caux F1, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P et al. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur J Human Genet. 2007; 15: 767-773.

  11. Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007; 143A(4): 2944-2958.

  12. Guillespie R. Principles of amputation surgery in children with longitudinal deficiencies of the femur. Clin Orthop Rel Res. 1990; 256: 29-38.

  13. Romo HD. Prosthetic knees. Phys Med Rehabil Clinic N Am. 2000; 11(3): 595-607.

  14. Friel K. Componentry for lower extremity prostheses. J Am Acad Orthop Surg. 2005; 13: 326-335.




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