Blue rubber bleb nevus syndrome differential diagnosis: Difference between revisions

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|Maffucci Syndrome
|Maffucci Syndrome<ref name="pmid9747318">{{cite journal |vauthors=Enjolras O, Wassef M, Merland JJ |title=[Maffucci syndrome: a false venous malformation? A case with hemangioendothelioma with fusiform cells] |language=French |journal=Ann Dermatol Venereol |volume=125 |issue=8 |pages=512–5 |date=August 1998 |pmid=9747318 |doi= |url=}}</ref>
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* Venous [[vascular]] malformations
* Venous [[vascular]] malformations
* Multiple [[Enchondroma|enchondromas]]<ref name="pmid20661403">{{cite journal |vauthors=Pansuriya TC, Kroon HM, Bovée JV |title=Enchondromatosis: insights on the different subtypes |journal=Int J Clin Exp Pathol |volume=3 |issue=6 |pages=557–69 |date=June 2010 |pmid=20661403 |doi= |url=}}</ref>
* Multiple [[Enchondroma|enchondromas]]<ref name="pmid20661403">{{cite journal |vauthors=Pansuriya TC, Kroon HM, Bovée JV |title=Enchondromatosis: insights on the different subtypes |journal=Int J Clin Exp Pathol |volume=3 |issue=6 |pages=557–69 |date=June 2010 |pmid=20661403 |doi= |url=}}</ref>
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* Multiple central [[cartilaginous]] tumors<ref name="pmid22057236">{{cite journal |vauthors=Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM |title=Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 |journal=Nat. Genet. |volume=43 |issue=12 |pages=1262–5 |date=November 2011 |pmid=22057236 |doi=10.1038/ng.994 |url=}}</ref>
* Nodules that are in red/brown or bluish in colour
* Severe disfigurement of the affected body parts
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* Spindle cell hemangiomas
* Pheboliths
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{{Blue rubber bleb nevus syndrome}}
{{Blue rubber bleb nevus syndrome}}

Revision as of 18:09, 6 December 2018


Overview

Blue rubber bleb nevus syndrome must be differentiated from dermatologic manifestations of kaposi Sarcoma, diffuse neonatal hemangiomatosis, familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, maffucci syndrome and mucosal venous malformation syndrome.

Differentiating Blue rubber bleb nevus syndrome from other Diseases

Blue rubber bleb nevus syndrome must be differentiated from dermatologic manifestations of kaposi Sarcoma, diffuse neonatal hemangiomatosis, familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, maffucci syndrome and mucosal venous malformation syndrome.

Disease Symptoms Physical examination Lab Findings
Kaposi Sarcoma
Diffuse Neonatal Hemangiomatosis
  • Difficulty in walking
  • Radiologic evaluation is very important in the follow of Diffuse Neonatal Hemangiomatosis which shows the following
    • Destruction of cortex
    • Endosteal cortical erosion
    • Zones of lucency
Familial Glomangiomatosis[1]
  • Lesions that:[2]
    • looks like plaque
    • looks like cobblestone
    • Hyperkeratotic, dark blue or purple lesions
Genetics of Klippel-Trenaunay-Weber Syndrome
Maffucci Syndrome[4]
  • Nodules that are in red/brown or bluish in colour
  • Severe disfigurement of the affected body parts
  • Spindle cell hemangiomas
  • Pheboliths

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References

  1. Iqbal A, Cormack GC, Scerri G (January 1998). "Hereditary multiple glomangiomas". Br J Plast Surg. 51 (1): 32–7. PMID 9577316.
  2. Boon LM, Mulliken JB, Enjolras O, Vikkula M (August 2004). "Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities". Arch Dermatol. 140 (8): 971–6. doi:10.1001/archderm.140.8.971. PMID 15313813.
  3. Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M (April 2002). "Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")". Am. J. Hum. Genet. 70 (4): 866–74. doi:10.1086/339492. PMC 379115. PMID 11845407.
  4. Enjolras O, Wassef M, Merland JJ (August 1998). "[Maffucci syndrome: a false venous malformation? A case with hemangioendothelioma with fusiform cells]". Ann Dermatol Venereol (in French). 125 (8): 512–5. PMID 9747318.
  5. Pansuriya TC, Kroon HM, Bovée JV (June 2010). "Enchondromatosis: insights on the different subtypes". Int J Clin Exp Pathol. 3 (6): 557–69. PMID 20661403.

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