Blue rubber bleb nevus syndrome differential diagnosis

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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	Fever Night sweats Weight loss	Red or violaceous macules and patches over the legs, nose, and feet Nodules or plaques The color of the lesions may change into blue, purple, or brown as the disease progress	Decreased hemoglobin level Antibodies against KSHV CD34, HHV-8, and D2-40 positive
Diffuse Neonatal Hemangiomatosis	Difficulty in walking	Presence of venous malformations in Leptomeninges Eyes Respiratory tract, and GI tract Mucosal surfaces Positive enchondromas Shortened or unequal length limbs in the patients with Diffuse Neonatal Hemangiomatosis	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]	Painful cutaneous lesions	Lesions that:^[2] looks like plaque looks like cobblestone Hyperkeratotic, dark blue or purple lesions	Biopsy shows the following:^[3] Undifferentiated smooth muscle cells surrounding convoluted venous channels
Genetics of Klippel-Trenaunay-Weber Syndrome	Pain Fatigability Bleeding	Positive port-wine stain Cutaneous vascular malformation and skin are positive Limb hypertrophy Venous abnormalities	Thrombocytopenia Ultrasonography shows Arteriovenous malformations Cardiac enlargement
Maffucci Syndrome	Venous vascular malformations Multiple enchondromas^[4]	Multiple central cartilaginous tumors^[5]

References

↑ Iqbal A, Cormack GC, Scerri G (January 1998). "Hereditary multiple glomangiomas". Br J Plast Surg. 51 (1): 32–7. PMID 9577316.
↑ 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.
↑ 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.
↑ 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.
↑ 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 (November 2011). "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2". Nat. Genet. 43 (12): 1262–5. doi:10.1038/ng.994. PMID 22057236.

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[pmid9577316-1] Iqbal A, Cormack GC, Scerri G (January 1998). "Hereditary multiple glomangiomas". Br J Plast Surg. 51 (1): 32–7. PMID 9577316.

[pmid15313813-2] 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.

[pmid118454072-3] 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.

[pmid20661403-4] 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.

[pmid22057236-5] 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 (November 2011). "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2". Nat. Genet. 43 (12): 1262–5. doi:10.1038/ng.994. PMID 22057236.

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Blue rubber bleb nevus syndrome differential diagnosis

Overview

Differentiating Blue rubber bleb nevus syndrome from other Diseases

References

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