Servelle-martorell syndrome Q85.8

Servelle 1948; Gorham and Stout 1955; Martorell and Monserrat 1962; Servelle et al. 1976

Very rare, congenital angiodysplasia characterized by extensive venous, mostly cavernous hemangiomas and disproportionate skeletal hypoplasia, occasionally with bone destruction of a limb. No hemodynamically active arteriovenous fistulas.

This syndrome is caused by a mutation in the RASA1 gene. The protein encoded by this gene is located in the cytoplasm and belongs to the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of the normal RAS p21, but not of its oncogenic counterpart. The protein acts as a suppressor of RAS function by enhancing the weak intrinsic GTPase activity of RAS proteins, leading to the inactive GDP-bound form of RAS and thus enabling the control of cellular proliferation and differentiation.

Bone is resorbed over several years, which can lead to its complete dissolution. From the initially affected area, the infection can spread across joints, or it can remain local. It can persist, but it can also be progressive. Lost bone is not replaced.

It can be assumed that Severell-Martorell syndrome is identical to phlebectasia genuine diffuse, Bockenheimer.

1. Gorham LW, Wright AW, Shultz HH, Maxon FC (1954) Disappearing bones: A rare form of massive osteolysis. Report of two cases, one with autopsy findings. On J Med 17: 674-682
2. Gorham LW, Stout AP (1955) Massive osteolysis (acute spontaneous absorption of bone, phantom bone, dissapearing bone): Its relation to hemangiomatosis. J Bone Joint Surg (Am) 37: 985-1004
3. Lo CP et al Disappearing calvarium in Gorham disease: MR imaging characteristics with pathologic correlation. AJNR Am J Neuroradiol 25: 415-418
4. Martorell F, Monserrat J (1962) Aplasia of the iliac vein and Klippel Trenaunay syndrome. Angiologia 14: 2-4
5. Servelle M, Bastin R, Loygue J, et al (1976) Hematuria and rectal bleeding in the child with Klippel and Trenaunay syndrome. Annals of Surgery 183: 418-428
6. Servelle M (1985) Klippel and Trenaunay's Syndrome. Annals of Surgery 201: 365-373
7. Wolf CH (1987) Angiodysplasias of the extremities. dermatologist 38: 645-651