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Blue Rubber Bleb Nevus Syndrome (4 cases) M. Khouazem, F. Aït Belkacem, R. Zerguine, R. Meghrabi, I. Benkaidali Clinic of Dermatology Mustapha University Hospital (Algiers – Algeria)


INTRODUCTION 

Rare (200 cases reported till 2003)

Caucasians +++

Both sexes equally

Sporadic cases ++ (sometimes autosomic dominant linked to Xme 9p)


In 1860, Gascoyen linked cutaneous cavernous hemangiomas to similar intestinal lesions


A century later, Bean described the compressible rubberlike lesions and gave therefore the name of BRBNS to the disease


OBSERVATIONS

Case 1

Case 2

Case 3

Case 4

Gender

Female

Female

Male

Female

Age of onset

15 years (Adult)

6 months

Congenital

Childhood

Age of diagnosis 51 years

26 months

12 years

58 years

Medical history

Nil

Anemia

Nil

Anemia

Cutaneous nodules

Flanks, thighs, face

Palms/soles (keratotic), back, face,pelvis

Extremities, face

Nil

Mucous nodules

Lips, tongue

Retro-labial, sub-lingual

Tongue, palate

Lips

Anemia

No

Yes

Yes

Yes

Blood feces testing

Negative

Positive

Negative

Positive

Chest X-ray

NA

NA

NA

NA

Abdo ultrasound

Liver angiomatous lesions

NA

NA

Pending

Up digest. endoscopy

Not done

2 gastric vascular malformations

Pending

NA

Low diges endoscopy

Not done

2 rectal vascular malformations

Pending

Pending


Oral lesions (Case 1)


Oral lesion (Case 2)


Oral lesion (Case 3)


Oral lesion (Case 4)


Keratotic plantar lesions (Case 2)


Keratotic plantar lesion (Case 2)


Palmar lesion (Case 2)


Subcutaneous lesion (Case 1)


Skin lesion (Case 3)


COMMENTS Oral lesions in all 4 cases (Rare in BRBNS)


Hepatic lesions in st the 1 case (Rare too)


Keratotic surface of the plantar nodules “Angiokeratoma-like� in nd the 2 case

(Never reported before)


Adult onset in the 1 th and 4 cases

(Rarely reported)

st


Gastric lesions detected nd in the 2 case (Usually digestive malformations involve the small intestine and the distal colon like in nd the 2 case)


3 of the patients present Anemia linked to a digestive involvment


The cerebral TDM in the 2nd case was motivated by a correlation between sublingual venous malformations & similar lesions in the central nervous system


CONCLUSION BRBNS associates in its typical pattern cutaneomucous and intestinal venous malformations (the intestinal ones usually cause chronicle anemia and sometimes lethal digestive hemorrages)


Other organs can be involved: – Bones – Joints – Central nervous system – Lung – Liver – Thyroïd – Kydney – Spleen – Eye – Bladder, ……


Cases of Hemothorax and Hemopericardium were also reported


Hemorrhage from visceral lesions has resulted in fatalities


References [1] Daniela Dobru, BRBNS (Case report and litterature review), Romanian journal of gastro-enterology, Sept 2004 [2] RODRIGUES D et al. - Blue Rubber Bleb Nevus Syndrome. Rev. Hosp. Clín. Fac. Med. S. Paulo 55 (1):29-34, 2000. [3] Naila Arebi MD, PhD, MRCP and Chris Fraser MD, MRCP Libyan j Med AOP:060806 published (18 September 2006) [4] Belshiem MR, Sullivan SN (1980) Bluerubber bleb nevus syndrome. Can J Surg 23:274 [5] Langella C, Delaporte E, Beregui Jpand al. (1999) Malformations veineuses multifocales majeures à prédominance monomélique. Ann Dermatol Venerol 126 :817-821 [6] Oranje AP (1996) Blue rubber bleb nevus syndrome. Pediatr Dermatol 3:304-310 [7] Goraya JS, Marwaha RK, Vatve Mand al. (1998) Blue rubber bleb nevus syndrome. Pediatr Hematol 15:261-264


Blue Rubber Bleb Nevus Syndrome  

Cutaneous & Digestive Venous Malformation

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