Blue rubber bleb nevus syndrome differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=http://www.wikidoc.org/index.php/Blue_rubber_bleb_nevus_syndrome]] | |||
{{CMG}}; {{AE}} {{VKG}} | |||
== Overview == | == Overview == | ||
[[Blue rubber bleb nevus syndrome]] must be differentiated from dermatologic manifestations of [[Kaposi's sarcoma|kaposi Sarcoma]], [[diffuse neonatal hemangiomatosis]], familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, [[maffucci syndrome]] and mucosal venous malformation syndrome. | [[Blue rubber bleb nevus syndrome]] must be differentiated from [[Dermatological|dermatologic]] manifestations of [[Kaposi's sarcoma|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 == | == 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. | [[Blue rubber bleb nevus syndrome]] must be differentiated from [[Dermatological|dermatologic]] manifestations of [[kaposi Sarcoma]], [[diffuse neonatal hemangiomatosis]], familial glomangiomatosis, genetics of klippel-trenaunay-weber syndrome, [[maffucci syndrome]] and [[mucosal]] [[Venous malformations|venous malformation]] [[syndrome]]. | ||
{| | {| | ||
| | ! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Disease}} | ||
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Symptoms}} | |||
! | ! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Physical examination}} | ||
! | ! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Lab Findings}} | ||
! | |||
|- | |- | ||
|Kaposi | | style="background: #DCDCDC; text-align: center;" |'''Kaposi sarcoma'''<ref name="pmid8880194">{{cite journal |vauthors=Dezube BJ |title=Clinical presentation and natural history of AIDS--related Kaposi's sarcoma |journal=Hematol. Oncol. Clin. North Am. |volume=10 |issue=5 |pages=1023–9 |date=October 1996 |pmid=8880194 |doi= |url=}}</ref><ref name="pmid10950369">{{cite journal |vauthors=Dezube BJ |title=Acquired immunodeficiency syndrome-related Kaposi's sarcoma: clinical features, staging, and treatment |journal=Semin. Oncol. |volume=27 |issue=4 |pages=424–30 |date=August 2000 |pmid=10950369 |doi= |url=}}</ref> | ||
| | | style="background: #F5F5F5;" | | ||
* [[Fever]] | * [[Fever]]<ref name="pmid3792084">{{cite journal |vauthors=Garay SM, Belenko M, Fazzini E, Schinella R |title=Pulmonary manifestations of Kaposi's sarcoma |journal=Chest |volume=91 |issue=1 |pages=39–43 |date=January 1987 |pmid=3792084 |doi= |url=}}</ref> | ||
* [[Night sweats]] | * [[Night sweats]] | ||
* [[Weight loss]] | * [[Weight loss]] | ||
| | * [[Cough]] and | ||
* [[Hemoptysis]] | |||
| style="background: #F5F5F5;" | | |||
* [[Weight loss|Red or violaceous]] [[Macule|macules]] and patches over the legs, nose, and feet | * [[Weight loss|Red or violaceous]] [[Macule|macules]] and patches over the legs, nose, and feet | ||
* [[Nodule (medicine)|Nodules]] or [[Plaque|plaques]] | * [[Nodule (medicine)|Nodules]] or [[Plaque|plaques]] | ||
* The color of the [[lesions]] may change into blue, purple, or brown as the disease progress | * The color of the [[lesions]] may change into blue, purple, or brown as the disease progress | ||
| | | style="background: #F5F5F5;" | | ||
* CD4+ T-lymphocyte count | * CD4+ T-lymphocyte count<ref name="pmid2565954">{{cite journal |vauthors=Chachoua A, Krigel R, Lafleur F, Ostreicher R, Speer M, Laubenstein L, Wernz J, Rubenstein P, Zang E, Friedman-Kien A |title=Prognostic factors and staging classification of patients with epidemic Kaposi's sarcoma |journal=J. Clin. Oncol. |volume=7 |issue=6 |pages=774–80 |date=June 1989 |pmid=2565954 |doi=10.1200/JCO.1989.7.6.774 |url=}}</ref> | ||
* Decreased [[hemoglobin]] level | * Decreased [[hemoglobin]] level | ||
* [[Antibodies]] against KSHV | * [[Antibodies]] against KSHV | ||
* CD34, [[HHV-8]], and D2-40 positive | * CD34, [[HHV-8]], and D2-40 positive | ||
* [[Fecal occult blood test]] | * [[Fecal occult blood test]] | ||
* Helper/suppressor ratio (T4/T8) | |||
* Measuring serum [[beta-2-microglobulin]] | |||
* Measuring serum acid labile alfa [[interferon]] | |||
|- | |- | ||
|Diffuse Neonatal Hemangiomatosis | | style="background: #DCDCDC; text-align: center;" |'''Diffuse neonatal hemangiomatosis (DNH)'''<ref name="Upton2016">{{cite journal|last1=Upton|first1=Audra|title=Diffuse Neonatal Hemangiomatosis|journal=Journal of Diagnostic Medical Sonography|volume=21|issue=4|year=2016|pages=350–353|issn=8756-4793|doi=10.1177/8756479305278971}}</ref><ref name="pmid29085724">{{cite journal |vauthors=Agarwal S, Sharma A, Maria A |title=Diffuse neonatal hemangiomatosis presenting as congestive heart failure |journal=Dermatol Pract Concept |volume=7 |issue=3 |pages=66–69 |date=July 2017 |pmid=29085724 |pmc=5661156 |doi=10.5826/dpc.0703a15 |url=}}</ref> | ||
| | | style="background: #F5F5F5;" | | ||
* Difficulty in walking | * Difficulty in walking | ||
| | * Haemorrhages | ||
| style="background: #F5F5F5;" | | |||
* Presence of [[venous malformations]] in | * Presence of [[venous malformations]] in | ||
** [[Leptomeninges]] | ** [[Leptomeninges]] | ||
| Line 42: | Line 49: | ||
* Positive [[Enchondroma|enchondromas]] | * Positive [[Enchondroma|enchondromas]] | ||
* Shortened or unequal length [[limbs]] in the patients with Diffuse Neonatal Hemangiomatosis | * Shortened or unequal length [[limbs]] in the patients with Diffuse Neonatal Hemangiomatosis | ||
| | | style="background: #F5F5F5;" | | ||
* [[Radiological|Radiologic]] evaluation is very important in the follow of Diffuse Neonatal Hemangiomatosis which shows the following | * [[Radiological|Radiologic]] evaluation is very important in the follow of Diffuse Neonatal Hemangiomatosis which shows the following | ||
** Destruction of [[cortex]] | ** Destruction of [[cortex]] | ||
| Line 48: | Line 55: | ||
** Zones of lucency | ** Zones of lucency | ||
|- | |- | ||
|Familial | | style="background: #DCDCDC; text-align: center;" |'''Familial glomangiomatosis'''<ref name="pmid9577316">{{cite journal |vauthors=Iqbal A, Cormack GC, Scerri G |title=Hereditary multiple glomangiomas |journal=Br J Plast Surg |volume=51 |issue=1 |pages=32–7 |date=January 1998 |pmid=9577316 |doi= |url=}}</ref> | ||
| | | style="background: #F5F5F5;" | | ||
* Painful [[cutaneous]] lesions | * Painful [[cutaneous]] lesions | ||
| | | style="background: #F5F5F5;" | | ||
* Lesions that:<ref name="pmid15313813">{{cite journal |vauthors=Boon LM, Mulliken JB, Enjolras O, Vikkula M |title=Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities |journal=Arch Dermatol |volume=140 |issue=8 |pages=971–6 |date=August 2004 |pmid=15313813 |doi=10.1001/archderm.140.8.971 |url=}}</ref> | * Lesions that:<ref name="pmid15313813">{{cite journal |vauthors=Boon LM, Mulliken JB, Enjolras O, Vikkula M |title=Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities |journal=Arch Dermatol |volume=140 |issue=8 |pages=971–6 |date=August 2004 |pmid=15313813 |doi=10.1001/archderm.140.8.971 |url=}}</ref> | ||
** looks like [[plaque]] | ** looks like [[plaque]] | ||
** looks like cobblestone | ** looks like cobblestone | ||
** Hyperkeratotic, dark blue or purple [[lesions]] | ** Hyperkeratotic, dark blue or purple [[lesions]] | ||
| | | style="background: #F5F5F5;" | | ||
* [[Biopsy]] shows the following:<ref name="pmid118454072">{{cite journal |vauthors=Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M |title=Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas") |journal=Am. J. Hum. Genet. |volume=70 |issue=4 |pages=866–74 |date=April 2002 |pmid=11845407 |pmc=379115 |doi=10.1086/339492 |url=}}</ref> | * [[Biopsy]] shows the following:<ref name="pmid118454072">{{cite journal |vauthors=Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M |title=Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas") |journal=Am. J. Hum. Genet. |volume=70 |issue=4 |pages=866–74 |date=April 2002 |pmid=11845407 |pmc=379115 |doi=10.1086/339492 |url=}}</ref> | ||
** Undifferentiated [[smooth muscle]] cells surrounding convoluted [[venous]] channels | ** Undifferentiated [[smooth muscle]] cells surrounding convoluted [[venous]] channels | ||
|- | |- | ||
| | | style="background: #DCDCDC; text-align: center;" |'''Klippel-Trenaunay-Weber syndrome'''<ref name="pmid22000870">{{cite journal |vauthors=Redondo P, Aguado L, Martínez-Cuesta A |title=Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis |journal=J. Am. Acad. Dermatol. |volume=65 |issue=5 |pages=893–906; quiz 907–8 |date=November 2011 |pmid=22000870 |doi=10.1016/j.jaad.2010.12.047 |url=}}</ref><ref name="pmid17367610">{{cite journal |vauthors=Garzon MC, Huang JT, Enjolras O, Frieden IJ |title=Vascular malformations. Part II: associated syndromes |journal=J. Am. Acad. Dermatol. |volume=56 |issue=4 |pages=541–64 |date=April 2007 |pmid=17367610 |doi=10.1016/j.jaad.2006.05.066 |url=}}</ref> | ||
| | | style="background: #F5F5F5;" | | ||
* [[Pain]] | * [[Pain]] | ||
* [[Fatigability]] | * [[Fatigability]] | ||
* Bleeding | * Bleeding | ||
| | | style="background: #F5F5F5;" | | ||
* Positive [[port-wine stain]] | * Positive [[port-wine stain]] | ||
* Multiple [[hemangiomas]] | |||
* Cutaneous [[vascular malformation]] and skin are positive | * Cutaneous [[vascular malformation]] and skin are positive | ||
* Limb [[Hypertrophy (medical)|hypertrophy]] | * Limb [[Hypertrophy (medical)|hypertrophy]]<ref name="pmid19577333">{{cite journal |vauthors=Redondo P, Bastarrika G, Aguado L, Martínez-Cuesta A, Sierra A, Cabrera J, Alonso-Burgos A |title=Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome |journal=J. Am. Acad. Dermatol. |volume=61 |issue=4 |pages=621–8 |date=October 2009 |pmid=19577333 |doi=10.1016/j.jaad.2009.04.027 |url=}}</ref> | ||
* [[Venous]] abnormalities | * [[Venous]] abnormalities | ||
| | | style="background: #F5F5F5;" | | ||
* [[Thrombocytopenia]] | * [[Thrombocytopenia]] | ||
* [[Ultrasonography]] shows | * [[Ultrasonography]] shows | ||
** [[Arteriovenous malformation|Arteriovenous malformations]] | ** [[Arteriovenous malformation|Arteriovenous malformations]] | ||
** [[Cardiac]] enlargement | ** [[Cardiac]] enlargement | ||
* | * | ||
|- | |- | ||
|Maffucci | | style="background: #DCDCDC; text-align: center;" |'''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><ref name="pmid3805090">{{cite journal |vauthors=Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M |title=The malignant potential of enchondromatosis |journal=J Bone Joint Surg Am |volume=69 |issue=2 |pages=269–74 |date=February 1987 |pmid=3805090 |doi= |url=}}</ref> | ||
| | | style="background: #F5F5F5;" | | ||
* 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> | ||
| | | style="background: #F5F5F5;" | | ||
* [[Nodules]] that are in red/brown or bluish in colour | * [[Nodules]] that are in red/brown or bluish in colour | ||
* Severe disfigurement of the affected body parts | * Severe disfigurement of the affected body parts | ||
| | | style="background: #F5F5F5;" | | ||
* [[Spindle cell]] [[hemangiomas]] | * [[Spindle cell]] [[hemangiomas]] | ||
* Phleboliths | * Phleboliths | ||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 21:24, 28 February 2019
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] |
|
| |
| Diffuse neonatal hemangiomatosis (DNH)[5][6] |
|
|
|
| Familial glomangiomatosis[7] |
|
| |
| Klippel-Trenaunay-Weber syndrome[10][11] |
|
|
|
| Maffucci syndrome[13][14] |
|
|
|
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.