Hereditary multiple exostoses: A case-report

Diallo, S.; Niasse, Moustapha; Diallo, Rama; Diouf, Cheikh; Sané, A.

doi:10.1016/j.jbspin.2016.01.002

Cited by 3 publications

(3 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In sub-Saharan Africa, reported cases are apparently sporadic. To our knowledge, they come from Congo (4 cases) [19], Senegal (3 cases) [8,20,21], Ivory Coast (1 case) [3] and Burkina (1 case) [11].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Multiple Exostosis Disease: Study of Three Senegalese Families

Niasse¹,

Sy²,

Mahaman³

et al. 2019

SM Musculoskelet Disord

View full text Add to dashboard Cite

diffuse masses. The diagnosis of multiple exostosis disease was made in these patients on the basis of epidemiological, clinical, biological, radiological and histological arguments. The information provided by the index cases made it possible to create family trees. Then, a systematic screening for other family cases of multiple exostosis disease was carried out after obtaining consent.Screening was performed on relatives: parents, brothers, sisters or children in the first degree; uncles, aunts or grandparents in the second degree; and first cousins in the third degree. The following data were specified for each patient: epidemiological data (age at the onset and diagnosis of the disease, sex, geographical origin); clinical data (the number of exostosis, their size, their topography, the painful or painless nature); biological data (absence of inflammatory syndrome,

show abstract

Section: Discussionmentioning

confidence: 99%

“…This prevalence has not been determined in the African population. However, work has been carried out on the disease in North Africa and sub-Saharan Africa [3][4][5][6][7][8][9][10][11][12]. Studies evaluating family forms of the disease were mainly carried out in the Western literature [12][13][14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Multiple Exostosis Disease: Study of Three Senegalese Families

Niasse¹,

Sy²,

Mahaman³

et al. 2019

SM Musculoskelet Disord

View full text Add to dashboard Cite

show abstract

“…It is less reported in North Africa 7,8 . In sub-Saharan Africa, only 20 observations to our knowledge were described between 1999 and 2018 (table below) 9,10,11,12,12,13,14,15 .…”

Section: Epidemiologymentioning

confidence: 99%

Multiple Exostosis Disease

Niasse¹,

Kane²,

Condé³

et al. 2019

J Rare Dis Res Treat

Self Cite

View full text Add to dashboard Cite

Multiple exostosis disease is one of the hereditary diseases with autosomal dominant transmission. It is characterized by the proliferation of bone protuberances, especially located in the metaphysis of long bones.Since 1993, advances have been noted in knowledge of the pathophysiology of this disease, in particular with the discovery of the mutation of EXT genes, found in 80% of multiple exostosis disease. These genes, tumor suppressors, code for proteins involved in the synthesis of heparan sulfates. The deficiency in quantity and quality of heparan sulfates leads to changes in certain metabolic processes, which leads to the development of ectopic growth plaques. This is responsible for the development of exostosis, but also for the low longitudinal growth of long bones. The disease phenotype may also associate abnormalities in the shape and length of long bones, such as the typical "Bessel Hagen" deformity. Clinically, bone masses are often painless. The rare complication (2 to 5% of cases) but the most feared is the transformation into chondrosarcoma, which motivates regular clinical and radiological monitoring of these patients. Treatment, mainly surgical, is indicated in case of symptoms (pain, increased exostosis volume after the end of growth, compression of neighboring organs.

show abstract