Blue rubber bleb nevus syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

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^[1]^[2]	Fever^[3] Night sweats Weight loss Cough and Hemoptysis	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	CD4+ T-lymphocyte count^[4] Decreased hemoglobin level Antibodies against KSHV CD34, HHV-8, and D2-40 positive Fecal occult blood test Helper/suppressor ratio (T4/T8) Measuring serum beta-2-microglobulin Measuring serum acid labile alfa interferon
Diffuse neonatal hemangiomatosis (DNH)^[5]^[6]	Difficulty in walking Haemorrhages	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^[7]	Painful cutaneous lesions	Lesions that:^[8] looks like plaque looks like cobblestone Hyperkeratotic, dark blue or purple lesions	Biopsy shows the following:^[9] Undifferentiated smooth muscle cells surrounding convoluted venous channels
Klippel-Trenaunay-Weber syndrome^[10]^[11]	Pain Fatigability Bleeding	Positive port-wine stain Multiple hemangiomas Cutaneous vascular malformation and skin are positive Limb hypertrophy^[12] Venous abnormalities	Thrombocytopenia Ultrasonography shows Arteriovenous malformations Cardiac enlargement
Maffucci syndrome^[13]^[14]	Venous vascular malformations Multiple enchondromas^[15]	Nodules that are in red/brown or bluish in colour Severe disfigurement of the affected body parts	Spindle cell hemangiomas Phleboliths

References

↑ Dezube BJ (October 1996). "Clinical presentation and natural history of AIDS--related Kaposi's sarcoma". Hematol. Oncol. Clin. North Am. 10 (5): 1023–9. PMID 8880194.
↑ Dezube BJ (August 2000). "Acquired immunodeficiency syndrome-related Kaposi's sarcoma: clinical features, staging, and treatment". Semin. Oncol. 27 (4): 424–30. PMID 10950369.
↑ Garay SM, Belenko M, Fazzini E, Schinella R (January 1987). "Pulmonary manifestations of Kaposi's sarcoma". Chest. 91 (1): 39–43. PMID 3792084.
↑ Chachoua A, Krigel R, Lafleur F, Ostreicher R, Speer M, Laubenstein L, Wernz J, Rubenstein P, Zang E, Friedman-Kien A (June 1989). "Prognostic factors and staging classification of patients with epidemic Kaposi's sarcoma". J. Clin. Oncol. 7 (6): 774–80. doi:10.1200/JCO.1989.7.6.774. PMID 2565954.
↑ Upton, Audra (2016). "Diffuse Neonatal Hemangiomatosis". Journal of Diagnostic Medical Sonography. 21 (4): 350–353. doi:10.1177/8756479305278971. ISSN 8756-4793.
↑ Agarwal S, Sharma A, Maria A (July 2017). "Diffuse neonatal hemangiomatosis presenting as congestive heart failure". Dermatol Pract Concept. 7 (3): 66–69. doi:10.5826/dpc.0703a15. PMC 5661156. PMID 29085724.
↑ 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.
↑ Redondo P, Aguado L, Martínez-Cuesta A (November 2011). "Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis". J. Am. Acad. Dermatol. 65 (5): 893–906, quiz 907–8. doi:10.1016/j.jaad.2010.12.047. PMID 22000870.
↑ Garzon MC, Huang JT, Enjolras O, Frieden IJ (April 2007). "Vascular malformations. Part II: associated syndromes". J. Am. Acad. Dermatol. 56 (4): 541–64. doi:10.1016/j.jaad.2006.05.066. PMID 17367610.
↑ Redondo P, Bastarrika G, Aguado L, Martínez-Cuesta A, Sierra A, Cabrera J, Alonso-Burgos A (October 2009). "Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome". J. Am. Acad. Dermatol. 61 (4): 621–8. doi:10.1016/j.jaad.2009.04.027. PMID 19577333.
↑ 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.
↑ Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M (February 1987). "The malignant potential of enchondromatosis". J Bone Joint Surg Am. 69 (2): 269–74. PMID 3805090.
↑ 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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[pmid8880194-1] Dezube BJ (October 1996). "Clinical presentation and natural history of AIDS--related Kaposi's sarcoma". Hematol. Oncol. Clin. North Am. 10 (5): 1023–9. PMID 8880194.

[pmid10950369-2] Dezube BJ (August 2000). "Acquired immunodeficiency syndrome-related Kaposi's sarcoma: clinical features, staging, and treatment". Semin. Oncol. 27 (4): 424–30. PMID 10950369.

[pmid3792084-3] Garay SM, Belenko M, Fazzini E, Schinella R (January 1987). "Pulmonary manifestations of Kaposi's sarcoma". Chest. 91 (1): 39–43. PMID 3792084.

[pmid2565954-4] Chachoua A, Krigel R, Lafleur F, Ostreicher R, Speer M, Laubenstein L, Wernz J, Rubenstein P, Zang E, Friedman-Kien A (June 1989). "Prognostic factors and staging classification of patients with epidemic Kaposi's sarcoma". J. Clin. Oncol. 7 (6): 774–80. doi:10.1200/JCO.1989.7.6.774. PMID 2565954.

[Upton2016-5] Upton, Audra (2016). "Diffuse Neonatal Hemangiomatosis". Journal of Diagnostic Medical Sonography. 21 (4): 350–353. doi:10.1177/8756479305278971. ISSN 8756-4793.

[pmid29085724-6] Agarwal S, Sharma A, Maria A (July 2017). "Diffuse neonatal hemangiomatosis presenting as congestive heart failure". Dermatol Pract Concept. 7 (3): 66–69. doi:10.5826/dpc.0703a15. PMC 5661156. PMID 29085724.

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

[pmid15313813-8] 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.

[pmid118454072-9] 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.

[pmid22000870-10] Redondo P, Aguado L, Martínez-Cuesta A (November 2011). "Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis". J. Am. Acad. Dermatol. 65 (5): 893–906, quiz 907–8. doi:10.1016/j.jaad.2010.12.047. PMID 22000870.

[pmid17367610-11] Garzon MC, Huang JT, Enjolras O, Frieden IJ (April 2007). "Vascular malformations. Part II: associated syndromes". J. Am. Acad. Dermatol. 56 (4): 541–64. doi:10.1016/j.jaad.2006.05.066. PMID 17367610.

[pmid19577333-12] Redondo P, Bastarrika G, Aguado L, Martínez-Cuesta A, Sierra A, Cabrera J, Alonso-Burgos A (October 2009). "Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome". J. Am. Acad. Dermatol. 61 (4): 621–8. doi:10.1016/j.jaad.2009.04.027. PMID 19577333.

[pmid9747318-13] 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.

[pmid3805090-14] Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M (February 1987). "The malignant potential of enchondromatosis". J Bone Joint Surg Am. 69 (2): 269–74. PMID 3805090.

[pmid20661403-15] 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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Blue rubber bleb nevus syndrome differential diagnosis

Overview

Differentiating Blue rubber bleb nevus syndrome from other Diseases

References

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