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Blue Rubber Bleb Nevi as a cause of intussusception
B l u e R u b b e r B l e b N e v i as a C a u s e o f I n t u s s u s c e p t i o n by Alien F. Browne, Schmuel Katz, James Miser, and E. Thomas Boles, Jr. Columbus, Ohio 9 The Blue Rubber Bleb Nevus syndrome is a rare disease characterized by a distinctive type of hemangioma which involves the skin and the gastrointestinal tract. In the latter location, these lesions are often responsible for chronic blood loss and secondary anemia, and in rare situations may act as a leading point for an intussusception. The diagnosis of intussusception in children older than 3 or 4 yr is frequently difficult and delayed. In a child with typical skin lesions of the Blue Rubber Bleb Nevus syndrome, an acute illness with manifestations of intestinal obstruction should indicate the possibility of an associated intussusception. INDEX W O R D S : Blue Rubber Bleb Nevus syndrome; hemangioma; intussusception.
N S C H O O L A G E C H I L D R E N , intussusception is a relatively u n c o m m o n cause of intestinal obstruction. F u r t h e r m o r e , in these older children the possibility of an a n a t o m i c lesion acting as a leading point is distinctly higher than in infants and toddlers; the frequency of small intestinal intussusception as compared to the usual ileocolic form is also higher. H e m a n g i o m a s are rare causes of intussusception. In a particularly u n u s u a l form of intestinal h e m a n g i o m a s , similar lesions are also found on the s k i n - - t h e so-called Blue R u b b e r Bleb Nevus syndrome. This report is of a n 1 1 yr old girl with the Blue R u b b e r Bleb Nevus s y n d r o m e who presented with a complicating small intestinal intussusception.
I
CASE REPORT
An 11 yr old black female presented with the chief complaint of crampy abdominal pain of a few hours duration. She had no nausea, vomiting, diarrhea, or constipation. The diagnosisof the Blue Rubber Bleb Nevus syndrome had been made at 2 yr of age; since that time, multiple hospital admittances had been required for abdominal pain and anemia, treated with observation and transfusions. Gastroscopy and colonoscopyat 7 yr of age showed hemangiomas in her stomach and colon. In the past year she had been receiving transfusions every 2 to 3 wk because of anemia secondary to chronic gastrointestinal bleeding. Her past medical history was otherwise unremarkable. There were no other family members with similar problems. On physical examination she appeared well developed, well nourished,and in moderate distress. Her pulse was 100, blood pressure 130/70, and temperature 98.6~ F. Raised, firm, bluish skin lesionswere scattered over her body (Fig. 1, A and B). Her abdomen was diffusely tender, but soft and without Journal of Pediatric Surgery, Vol. 18, No. 1 (February), 1983
masses. The bowel sounds were normal. Her stool was dark brown in color and positive for occult blood. The hemoglobin value was 6.5 mg. % with an hematocrit of 22%. Blood transfusions were given soon after admission. Her abdominal pain persisted, and after 24 hr abdominal x-rays showed partial small bowel obstruction. Intravenous fluids, nasogastric suction, and antibiotics were then started. The abdominal pain persisted, and the nasogastric tube drainage became bile colored. Because of continuing clinical and radiological manifestations of intestinal obstruction, laparotomy was performed on the third hospital day. An irreducible jejunal intussusception was found, and resection with primary anastomosiswas performed. A firm, blue, submucosal hemangioma was the leading point of the intussusception (Fig. 2, A and B). In addition, multiple firm blue lesions studded the entire small and large intestines. Liver, spleen, kidneys, uterus, ovaries, fallopian tubes, bladder, and parietal peritoneum were free of the vascular lesions. Her postoperative course was uncomplicated,and she was discharged on the eighth postoperativeday. DISCUSSION
The Blue R u b b e r Bleb N e v u s syndrome is an u n c o m m o n entity which was first well described by Bean. ~ It is characterized by cavernous h e m a n g i o m a s of the skin and gastrointestinal tract that appear as firm, bluish nodules varying in size from 0.1 to 3.0 cm. O n the skin they are typically elevated, can be partially emptied by pressure, and m a y be painful or tender to palpatation. 2 T h e r e also m a y be hyperhidrosis a r o u n d the lesions. T h e h e m a n g i o m a s are present at birth, and the syndrome m a y follow an autosomal d o m i n a n t hereditary pattern. T h e lesions in the gastrointestinal tract can be found anywhere from stomach to rectum. Bleeding from such lesions m a y result in chronic iron deficiency a n e m i a that requires frequent transfusions, as in
From the Department of Surgery, Division of Pediatric Surgery and the Department of Pediatrics. Division of Hematology/Oncology, Ohio State University College of Medicine and Children's Hospital and the Children's Hospital Research Foundation, Columbus, Ohio. Presented before the XXIX Annual Congress of the British Association of Paediatric Surgeons, Madrid, Spain, July 21-23, 1982. Address reprint requests to E. Thomas Boles, Jr., M.D., Department of Pediatric Surgery, Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205. 9 1983 by Grune & Stratton, Inc. 0022-3468/83/1801-0002501.00/0 7
8
BROWNE ET AL.
Fig. 1. (A) Multiple rounded, firm, slightly raised cutaneous lesions on plantar aspect of foot, (B) Firm, pedunculated blue lesions in inguinal and labial areas.
Fig. 2. (A) Resected specimen of jejunojejunal intussusceptions w i t h typical hemangiomatous lesion. (B) Photomicrograph showing thrombosed cavernous submucosal vascular spaces.
BLUE RUBBER BLEB NEVI AS A CAUSE OF INTUSSUSCEPTION
this patient. O c c a s i o n a l l y t h e h e m a n g i o m a s a r e found in other i n t r a - a b d o m i n a l organs such as liver, spleen, gall bladder, a n d kidney. T h e association of the gastrointestinal lesions and intussusception has been described. ~'3 Intussusception is a c o m m o n cause of small bowel obstruction in children. M o r e t h a n 50% occur in children under 1 yr old, and only 2% to 8% have d e m o n s t r a b l e leading points. 4'5'6 In older children with intussusceptions, leading points a r e more c o m m o n a n d the clinical picture is often atypical. 7'8 For these reasons, there is often d e l a y in diagnosis in this group of patients. T h e most c o m m o n leading point is a M e c k e l ' s diverticulum, but other lesions such as polyps, duplications, i n t r a m u r a l h e m a t o m a s , suture lines, the veriform appendix, and l y m p h o s a r c o m a s have been d e s c r i b e d ) '7 ~ Bower a n d K i e s e w e t t e r described a colocolic intussusception with an
9
h e m a n g i o m a as a l e a d i n g point. ~2 A s b r a h a m s o n and S h a n d l i n g r e p o r t e d intussusception as a m a n i f e s t a t i o n of intestinal h e m a n g i o m a t a in their review. ~3 T h e unique aspect of the Blue R u b b e r Bleb N e v u s s y n d r o m e is the distinctive c u t a n e o u s lesions t h a t should serve as a w a r n i n g of the possibility of an intussusception in a patient with s y m p t o m s of intestinal obstruction. Recognition of the distinctive cutaneous lesions should reduce d e l a y in this diagnosis in older children, This s y n d r o m e should join the P e u t z - J e g h e r s synd r o m e as an entity with cutaneous signs of i m p o r t a n t gastrointestinal pathology. T r e a t m e n t should include resection of the offending lesion, recognizing t h a t the process m a y occur a g a i n due to the usually w i d e s p r e a d distribution of the lesions.
REFERENCES
1. Bean WB: Vascular Spider and Related Lesions of the Skin. Springfield, Illinois, Charles C. Thomas, 1958, pp 178-185 2. Fine RM, Derbes VJ, Clark WH Jr: Blue rubber bleb nevus. Arch Dermatol 84:802-805, 1961 3. Sakurane HF, Sugai T, Saito T: The association of blue rubber nevus and Maffucci's syndrome. Arch Dermatol 95:28-36, 1967 4. Ein SH, Stephens CA: Intussusception: 354 cases in 10 years. J Pediatr Surg 6:16-27, 1971 5. Wayne ER, Campbell JB, Burrington JD, et al: Management of 344 children with intussusception. Radiology 107:597-601, 1973 6. Gierup J, Jorulf H, Livaditis A: Management of intussusception in infants and children: a survey based on 288 consecutive cases. Pediatrics 50:535-546, 1972
7. Ein SH: Leading points in childhood intussusception. J Pediatr Surg 11:209-211, 1976 8. Eklof OA, Johanson L, Lohr G: Childhood intussusception: hydrostatic reducibility and incidence of leading points in different age groups. Pediatr Radiol 10:83-86, 1980 9. Pollet JE: Intussusception: A study of its surgical management. Br J Surg 67:213-215, 1980 10. Turner D, Rickwood AMK, Brereton RJ: Intussusception in older children. Arch Dis Child 55:544-546, 1980 l 1. Raudkivi P J, Smith HLM: Intussusception: Analysis of 98 cases. Br J Surg 68:645-648, 1981 12. Bower RJ, Kiesewetter WB: Colo-colic intussusception due to a hemangioma. J Pediatr Surg 12:777-778, 1977 13. Abrahamson J, Shandling B: Intestinal hemangiomata in childhood and a syndrome for diagnosis: A collective review. J Pediatr Surg 8:487-495, 1973
N S C H O O L A G E C H I L D R E N , intussusception is a relatively u n c o m m o n cause of intestinal obstruction. F u r t h e r m o r e , in these older children the possibility of an a n a t o m i c lesion acting as a leading point is distinctly higher than in infants and toddlers; the frequency of small intestinal intussusception as compared to the usual ileocolic form is also higher. H e m a n g i o m a s are rare causes of intussusception. In a particularly u n u s u a l form of intestinal h e m a n g i o m a s , similar lesions are also found on the s k i n - - t h e so-called Blue R u b b e r Bleb Nevus syndrome. This report is of a n 1 1 yr old girl with the Blue R u b b e r Bleb Nevus s y n d r o m e who presented with a complicating small intestinal intussusception.
I
CASE REPORT
An 11 yr old black female presented with the chief complaint of crampy abdominal pain of a few hours duration. She had no nausea, vomiting, diarrhea, or constipation. The diagnosisof the Blue Rubber Bleb Nevus syndrome had been made at 2 yr of age; since that time, multiple hospital admittances had been required for abdominal pain and anemia, treated with observation and transfusions. Gastroscopy and colonoscopyat 7 yr of age showed hemangiomas in her stomach and colon. In the past year she had been receiving transfusions every 2 to 3 wk because of anemia secondary to chronic gastrointestinal bleeding. Her past medical history was otherwise unremarkable. There were no other family members with similar problems. On physical examination she appeared well developed, well nourished,and in moderate distress. Her pulse was 100, blood pressure 130/70, and temperature 98.6~ F. Raised, firm, bluish skin lesionswere scattered over her body (Fig. 1, A and B). Her abdomen was diffusely tender, but soft and without Journal of Pediatric Surgery, Vol. 18, No. 1 (February), 1983
masses. The bowel sounds were normal. Her stool was dark brown in color and positive for occult blood. The hemoglobin value was 6.5 mg. % with an hematocrit of 22%. Blood transfusions were given soon after admission. Her abdominal pain persisted, and after 24 hr abdominal x-rays showed partial small bowel obstruction. Intravenous fluids, nasogastric suction, and antibiotics were then started. The abdominal pain persisted, and the nasogastric tube drainage became bile colored. Because of continuing clinical and radiological manifestations of intestinal obstruction, laparotomy was performed on the third hospital day. An irreducible jejunal intussusception was found, and resection with primary anastomosiswas performed. A firm, blue, submucosal hemangioma was the leading point of the intussusception (Fig. 2, A and B). In addition, multiple firm blue lesions studded the entire small and large intestines. Liver, spleen, kidneys, uterus, ovaries, fallopian tubes, bladder, and parietal peritoneum were free of the vascular lesions. Her postoperative course was uncomplicated,and she was discharged on the eighth postoperativeday. DISCUSSION
The Blue R u b b e r Bleb N e v u s syndrome is an u n c o m m o n entity which was first well described by Bean. ~ It is characterized by cavernous h e m a n g i o m a s of the skin and gastrointestinal tract that appear as firm, bluish nodules varying in size from 0.1 to 3.0 cm. O n the skin they are typically elevated, can be partially emptied by pressure, and m a y be painful or tender to palpatation. 2 T h e r e also m a y be hyperhidrosis a r o u n d the lesions. T h e h e m a n g i o m a s are present at birth, and the syndrome m a y follow an autosomal d o m i n a n t hereditary pattern. T h e lesions in the gastrointestinal tract can be found anywhere from stomach to rectum. Bleeding from such lesions m a y result in chronic iron deficiency a n e m i a that requires frequent transfusions, as in
From the Department of Surgery, Division of Pediatric Surgery and the Department of Pediatrics. Division of Hematology/Oncology, Ohio State University College of Medicine and Children's Hospital and the Children's Hospital Research Foundation, Columbus, Ohio. Presented before the XXIX Annual Congress of the British Association of Paediatric Surgeons, Madrid, Spain, July 21-23, 1982. Address reprint requests to E. Thomas Boles, Jr., M.D., Department of Pediatric Surgery, Children's Hospital, 700 Children's Drive, Columbus, Ohio 43205. 9 1983 by Grune & Stratton, Inc. 0022-3468/83/1801-0002501.00/0 7
8
BROWNE ET AL.
Fig. 1. (A) Multiple rounded, firm, slightly raised cutaneous lesions on plantar aspect of foot, (B) Firm, pedunculated blue lesions in inguinal and labial areas.
Fig. 2. (A) Resected specimen of jejunojejunal intussusceptions w i t h typical hemangiomatous lesion. (B) Photomicrograph showing thrombosed cavernous submucosal vascular spaces.
BLUE RUBBER BLEB NEVI AS A CAUSE OF INTUSSUSCEPTION
this patient. O c c a s i o n a l l y t h e h e m a n g i o m a s a r e found in other i n t r a - a b d o m i n a l organs such as liver, spleen, gall bladder, a n d kidney. T h e association of the gastrointestinal lesions and intussusception has been described. ~'3 Intussusception is a c o m m o n cause of small bowel obstruction in children. M o r e t h a n 50% occur in children under 1 yr old, and only 2% to 8% have d e m o n s t r a b l e leading points. 4'5'6 In older children with intussusceptions, leading points a r e more c o m m o n a n d the clinical picture is often atypical. 7'8 For these reasons, there is often d e l a y in diagnosis in this group of patients. T h e most c o m m o n leading point is a M e c k e l ' s diverticulum, but other lesions such as polyps, duplications, i n t r a m u r a l h e m a t o m a s , suture lines, the veriform appendix, and l y m p h o s a r c o m a s have been d e s c r i b e d ) '7 ~ Bower a n d K i e s e w e t t e r described a colocolic intussusception with an
9
h e m a n g i o m a as a l e a d i n g point. ~2 A s b r a h a m s o n and S h a n d l i n g r e p o r t e d intussusception as a m a n i f e s t a t i o n of intestinal h e m a n g i o m a t a in their review. ~3 T h e unique aspect of the Blue R u b b e r Bleb N e v u s s y n d r o m e is the distinctive c u t a n e o u s lesions t h a t should serve as a w a r n i n g of the possibility of an intussusception in a patient with s y m p t o m s of intestinal obstruction. Recognition of the distinctive cutaneous lesions should reduce d e l a y in this diagnosis in older children, This s y n d r o m e should join the P e u t z - J e g h e r s synd r o m e as an entity with cutaneous signs of i m p o r t a n t gastrointestinal pathology. T r e a t m e n t should include resection of the offending lesion, recognizing t h a t the process m a y occur a g a i n due to the usually w i d e s p r e a d distribution of the lesions.
REFERENCES
1. Bean WB: Vascular Spider and Related Lesions of the Skin. Springfield, Illinois, Charles C. Thomas, 1958, pp 178-185 2. Fine RM, Derbes VJ, Clark WH Jr: Blue rubber bleb nevus. Arch Dermatol 84:802-805, 1961 3. Sakurane HF, Sugai T, Saito T: The association of blue rubber nevus and Maffucci's syndrome. Arch Dermatol 95:28-36, 1967 4. Ein SH, Stephens CA: Intussusception: 354 cases in 10 years. J Pediatr Surg 6:16-27, 1971 5. Wayne ER, Campbell JB, Burrington JD, et al: Management of 344 children with intussusception. Radiology 107:597-601, 1973 6. Gierup J, Jorulf H, Livaditis A: Management of intussusception in infants and children: a survey based on 288 consecutive cases. Pediatrics 50:535-546, 1972
7. Ein SH: Leading points in childhood intussusception. J Pediatr Surg 11:209-211, 1976 8. Eklof OA, Johanson L, Lohr G: Childhood intussusception: hydrostatic reducibility and incidence of leading points in different age groups. Pediatr Radiol 10:83-86, 1980 9. Pollet JE: Intussusception: A study of its surgical management. Br J Surg 67:213-215, 1980 10. Turner D, Rickwood AMK, Brereton RJ: Intussusception in older children. Arch Dis Child 55:544-546, 1980 l 1. Raudkivi P J, Smith HLM: Intussusception: Analysis of 98 cases. Br J Surg 68:645-648, 1981 12. Bower RJ, Kiesewetter WB: Colo-colic intussusception due to a hemangioma. J Pediatr Surg 12:777-778, 1977 13. Abrahamson J, Shandling B: Intestinal hemangiomata in childhood and a syndrome for diagnosis: A collective review. J Pediatr Surg 8:487-495, 1973