January 1993, Volume 43, Issue 1

Case Reports

THE BLUE RUBBER BLEB SYNDROME

Tariq Shaft  ( Department of Medicine, Unit 5, Dow Medical College and Civil Hospisal, Karachi. )
Tahir Hussain  ( Department of Medicine, Unit 5, Dow Medical College and Civil Hospisal, Karachi. )
M. Shaft Quraishy  ( Department of Medicine, Unit 5, Dow Medical College and Civil Hospisal, Karachi. )

INTRODUCTION

The blue rubber bleb syndrome is a Condition in which multiple hemangiomas of the skin are associated with hemangiomas of the gastrointestinal tract1-4. The syndrome was first clearly delineated by Bean2. It consists of compressible soft blue swellings of the skin present predominantly on the trunk and upper arms. They are frequently tender or spontaneously painful. Localized sweating may occur over the lesions. There are associated hemangiomas in the gastrointestinal tract which are most common in the small intestine. These can bleed and lead to anaemia1-3. Aetiology is unknown with reported sporadic cases and a number of reports indicating an au tosomal dominant pattern of transmission1-5.

CASE REPORT

An 11 year old girl presented in the outpatient department with a 6 years history of small multiple swellings on the limbs and back. She had first noticed a swelling on her left thumb which gradually increased in size and was followed by similar swellings appearing on other fingers, palms, on dorsum of feet, back and on the oral mucosa. These were initially painless but later became painful, with occasional bleeding mostly follow­ing trauma and this led her to seek medical advice. On clinical examination swellings were bluish, soft, compressible, varying in size from 1x1 ems to 1x2 ems, arising from skin and subcutaneous tissue, non-fluctuant and non- translucent. These were present on all fingers of the hands (Figure 1),

the left palm, dorsum of the feet, back and the oral mucosa. There were no other positive findings. Her hemoglobin concentration was 13.6g/dl and platelet count was 2,72,000/cmm. Stool I)R showed no RBC’s and no occult blood. All other biochemical and haematological investigations were normal. 11cr upper G.I. endoscopy was done using an Olympus GIF XQ2O fibre optic endoscope which revealed a hemangioma on the lesser curvature of stomach (Figure 2).

Biopsy was not attempted. Choice of either surgical resection or photo-coagulation or cryodessication was offered. Patient opted for the latter facility which is expected to be acquired by our hospital in near future.

DISCUSSION

Hemangiomas are benign vascular neoplasms com­posed of endothelial lined vascular spaces. Differentia­tion between capillary and cavernous types is based on histopathology; 20-30% are present at birth and almost all develop by 9 months and rarely they may occur for the first time at a later age. In 80% of cases only a solitary lesion is present but in 20% multiple hemangiomas may be present1. These may occur either alone or in associa­tion with hemangiomas of other internal organs giving rise to a number of different syndromes1-4. A variety of treatments have been suggested indicating a lack of consensus. They vary from medical treatment such as administration of corticosteroids to surgical excision after identification of feeding vessels (which can either be embolized or ligated at time of surgery) to the use of carbondioxide lasers2 to such innovative techniques as the use of monoclonal antibodies directed against oestrogen receptors detected in some of these tumours6.

REFERENCES

1. Atherton, D.J., Rook, A. Naevi and other developmental defeeta in textbook of dermatology. Edited by Arthur D.S. Rook, RH. champion and J.L. Borton. Oxford, Blackwell, 1986; pp. 206- 10.
2. Caro, WA. and Bronatein. BR. Tumours of skin in dermatology. Edited by S.l.. Moachella, H.J. Hurley. Philadelphia, Saundera, 1985;vol 2, pp.1604-5.
3. From, U and Asaaad, D. Vascular neoplaama, pacudoneoplaama and hyperplasias. in dermatology in general medicine. Edited by TB. Fitzpatrick, AZ. Eisen, K. Wolff, I.M. Freedberg and F.K. Austin. New York, McGraw-Hill. 1974, vol.1, pp. 1065-66.
4. Paller, AS. and Esterly, N.E. Skin diseases in infants, in dermatology. Edited by M. Orkin, H.I Maibaeh and MV. Dahl. Connecticut, Prentice-Hall, 1991. pp 605-7.
5. Berlyne, G.M. and Berlyne, N. Anaemia due to blue rubber-bleb naevua disease. Lancet, 1960;2;1275-77.
6. Serafin, D. The akin; functional, metabolic and surgical considerations in textbook of surgery. Edited by D.C. Sabiaton. Philadelphia, Saunders, 1986, vol. 2pp. 1589-90.

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