Blue rubber bleb nevus syndrome with oral hemangiomas Yasunori Sumi, DDS, PhD, a, b Nozomu Taguchi, DDS, PhD,b and Toshio Kaneda, DDS, PhD,b Nagoya, Japan KOMAKl
CITY
HOSPITAL
AND
SCHOOL
OF MEDICINE,
NAGOYA
UNIVERSlTY
A case of blue rubber bleb nevus syndrome with oral hemangiomas is reported. Attention is directed to this syndrome because, although rare, it is usually associated with oral lesions. The blue rubber bleb nevus syndrome should always be considered a possibility in patients with oral hemangiomas and bluish skin nodules. (ORAL SURG ORAL MED ORAL. PATHOL 1991;71:84-6)
I
n 1958 Bean’ described a definite group of cases of cutaneous and intestinal hemangiomatosis, which he collectively designated as the blue rubber bleb nevus syndrome. This syndrome is characterized by bleblike cavernous hemangiomas of the skin and viscera. The patient usually has chronic iron deficiency anemia as a result of bleeding from gastrointestinal lesions.2 This syndrome is a relatively rare condition, but awareness of its existence may lead to better treatment of the patients with oral hemangiomas. We report a case of blue rubber bleb nevus syndrome associated with a large sublingual hemangioma, multiple cutaneous hemangiomas, and iron deficiency anemia, probably as a consequence of gastric hemangiomas. CASE
REPORT
A lo-year-old girl was referred to the oral surgery clinic of Nagoya University Hospital on Aug. 21, 1986, because of bluish tumors on the sublingual region (Fig. 1). Since the patient’s birth her parents had noticed a sublingual rubbery lesion and bluish skin lesions. These painless skin lesions increased in both size and number with age, and bleeding occasionally occurred from these lesions when traumatized, but never spontaneously. At the age of 10 years the patient, complaining of the sublingual tumor, visited a dentist, who referred her to our hospital. Her medical history was otherwise unremarkable. No other members of the family were similarly affected. On physical examination she was found to be slightly pale, well nourished, and of normal height and weight. aDepartment of Oral and Maxillofacial Surgery, Komaki City Hospital. bDepartment of Oral Surgery, Schoolof Medicine,Nagoya University. 7/14/22101
84
Fig. 1. Clinical appearance of patient with large sublingual hemangioma.
There were 42 bluish, marginated cutaneous nevi, measuring 2 to 15 mm in diameter, on the trunk and extremities (Fig. 2). Some of the lesions were elevated and had a rubber-nipple consistency. They could be easily blanched by firm compression but quickly resumed their original shape.
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Blue rubber bleb nevus syndrome
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Number 1
Fig. 3. Radiographsshowing open bite and multiple ovoid radiopacitiesconsistentwith phlebolithsin lesion.
Fig.
2. Multiple rounded,blue lesionson plantar aspect
of feet. A bluish,soft, well-marginatedhemangiomawaspresent in the sublingualregion.An anterior openbite with inability to closethe lips becauseof the sublingualhemangioma wasa prominentfeature. A smalllesion,8 X 6 mm,wasalso presenton the right lower lip. No bleedingwasobserved from the hemangiomaof the oral cavity. Indurated, stonelike nodulescouldbedetectedby palpationin the sublingual lesion. The patient wasadmittedto the hospitalfor examination on Aug. 16, 1986. Laboratory findings on admissionrevealed317 X 104/mmred blood cells,4.8 gm/dl hemoglobin, 16.8%hematocrit, and a serumiron level of 24 pg/dl. Resultsof other blood chemistry and serumimmunologic testswere normal. Her stoolwasdark brown and positive for occult blood.Radiographicstudiesshowedopenbite and multiple radiopaquelesionsin the sublingualregion, suggestingphleboliths(Fig. 3). A bariumcontraststudy of the gastrointestinal tract demonstratedsix sessilepolypoid filling defects,10to 20 mmin diameter,in the stomach(Fig. 4). Excisionalbiopsyof a foot lesionrevealeda hemangioma demarcatedby connectivetissue.The lesionconsistedof fibroustissuestromaand many dilated vascularspaceslined by a singlelayer of endothelialcells. Many of the lumens were empty, but somewerefilled with red bloodcells(Fig. 5). The pathologicdiagnosiswascavernoushemangioma. The patient wasgiven long-termoral iron supplementation. The anemiarespondedwell to the oral iron therapy, and her hemoglobinlevel remainedat about 10 to 12gm/ dl. Her parentsrefusedsurgicaltherapy for her sublingual and stomachhemangiomas.
Fig. 4. Barium contrast indicative of probablehemangiomasin stomachjnrrowsj. DISCUSSION
The blue rubber bleb nevus syndrome is an uncommon disorder characterized by cutaneous cavernous hemangiomas associated with hemangiomas of the gastrointestinal tract. * The typical cutaneous hemangioma of this syndrome has a blue, rubber nipple-like appearance, hence the name. Bleeding from the lesions in the gastrointestinal tract usually leads to iron deficiency anemia.2 The present case occurred in a lo-year-old girl with 42 blue hemangiomas on her
86
Sumi, Taguchi, and Kaneda
ORAL
SURC
ORAL
MED
ORAL
January
5. Microscopic appearance of bluish elevated lesion from sole of foot. Dilated vessels are seen at subcutaneous region. (Hematoxylin-eosin stain; original magnification,
Fig.
X40.)
skin, many involving the sublingual region. Subsequent examination revealed severe iron deficiency anemia, and the results of a barium contrast study indicated six lesions in the stomach, suggestive of hemangioma. Her symptoms were consistent with the clinical diagnosis of blue rubber bleb nevus syndrome. When bleeding from the gastrointestinal tract is significant and hemangiomas are confined to a regional segment, resections of the involved segments are recommended.3 As in our case, if the lesions are diffuse and bleeding episodes are mild, conservative treatment is usually adequate, because satisfactory hemoglobin levels have been observed to be maintained for more than 3 years. In such cases continuous iron therapy is the mainstay of treatment. As in the case reported here, most instances of this syndrome show no family history; however, eight cases with a positive family history have been described and an autosomal dominant mode of transmission has been proposed.4 More than 55 cases have been reported under the name of this syndrome in the English-language literature and more than 33 cases in the Japanese literature. The lesions have been described in the oral cav-
PATHOI.
1991
ity, oropharynx, nasopharynx, esophagus, stomach, small bowel, colon, rectum, anus, peritoneal cavity, mesentery, liver, lung, glans penis, eye, and central nervous system.3 Most of these cases have been reported in dermatology journals, whereas only a few have appeared in the dental literature.5-7 This syndrome is well known among dermatologists and gastroenterologists but not generally among oral surgeons or dentists. Tsuda et al6 studied 74 cases of this syndrome and reported that 59% of the patients had oral hemangiomas. In addition, Fukuo et a1.7 reported that 64% of the patients had hemangiomas in the oral cavity. We direct attention to this syndrome because, although rare, it is usually associated with the oral cavity. Examination of the gastrointestinal tract and testing for iron deficiency anemia should be undertaken when multiple oral and cutaneous hemangiomas are associated. We conclude that in the case of a patient with oral hemangiomas and bluish skin nevi, the blue rubber bleb nevus syndrome should always be considered in the differential diagnosis. REFERENCES 1. Bean WD. Vascular spiders and related lesions of the skin. Springfield, Ill: Charles C Thomas, 1958:178-85. 2. Baker AL. Kahn PC. Binder SC. et al. Gastrointestinal bleeding due to blue rubber bleb nevus syndrome. Gastroenterology 1971;61:530-4. 3. Sandhu KS, Cohen H, Radin R, et al. Blue bleb nevus syndrome presenting with recurrences. Dig Dis Sci 1987; 32:214-9. 4. Kisu T, Yamaoka K, Uchida Y, et al. A case of blue rubber bleb nevus syndrome with familial onset. Gastroenterol Jpn 1986;21:262-6. 5. Crosher RF, Blackburn CW, Dinsdale RC. Blue rubber-bleb naevus syndrome. Br J Oral Maxillofac Surg 1988;26:160-4. 6. Tsuda Z, Iida M, Satoh T, et al. A case of blue rubber bleb nevus syndrome [Abstract]. J Jpn Stomatol Sot 1985;34:879. I. Fukuo M, Okuda T, Yasuoka T, et al. Blue rubber bleb nevus syndrome: report of a case. Jpn J Oral Maxillofac Surg 1986;32:627-30. Reprint requests to. Yasunori Sumi, DDS, PhD Department of Oral and Maxillofacial Komaki City Hospital I-20 Jofusi Komaki, 485, Japan
Surgery
CITY
HOSPITAL
AND
SCHOOL
OF MEDICINE,
NAGOYA
UNIVERSlTY
A case of blue rubber bleb nevus syndrome with oral hemangiomas is reported. Attention is directed to this syndrome because, although rare, it is usually associated with oral lesions. The blue rubber bleb nevus syndrome should always be considered a possibility in patients with oral hemangiomas and bluish skin nodules. (ORAL SURG ORAL MED ORAL. PATHOL 1991;71:84-6)
I
n 1958 Bean’ described a definite group of cases of cutaneous and intestinal hemangiomatosis, which he collectively designated as the blue rubber bleb nevus syndrome. This syndrome is characterized by bleblike cavernous hemangiomas of the skin and viscera. The patient usually has chronic iron deficiency anemia as a result of bleeding from gastrointestinal lesions.2 This syndrome is a relatively rare condition, but awareness of its existence may lead to better treatment of the patients with oral hemangiomas. We report a case of blue rubber bleb nevus syndrome associated with a large sublingual hemangioma, multiple cutaneous hemangiomas, and iron deficiency anemia, probably as a consequence of gastric hemangiomas. CASE
REPORT
A lo-year-old girl was referred to the oral surgery clinic of Nagoya University Hospital on Aug. 21, 1986, because of bluish tumors on the sublingual region (Fig. 1). Since the patient’s birth her parents had noticed a sublingual rubbery lesion and bluish skin lesions. These painless skin lesions increased in both size and number with age, and bleeding occasionally occurred from these lesions when traumatized, but never spontaneously. At the age of 10 years the patient, complaining of the sublingual tumor, visited a dentist, who referred her to our hospital. Her medical history was otherwise unremarkable. No other members of the family were similarly affected. On physical examination she was found to be slightly pale, well nourished, and of normal height and weight. aDepartment of Oral and Maxillofacial Surgery, Komaki City Hospital. bDepartment of Oral Surgery, Schoolof Medicine,Nagoya University. 7/14/22101
84
Fig. 1. Clinical appearance of patient with large sublingual hemangioma.
There were 42 bluish, marginated cutaneous nevi, measuring 2 to 15 mm in diameter, on the trunk and extremities (Fig. 2). Some of the lesions were elevated and had a rubber-nipple consistency. They could be easily blanched by firm compression but quickly resumed their original shape.
Volume
Blue rubber bleb nevus syndrome
71
85
Number 1
Fig. 3. Radiographsshowing open bite and multiple ovoid radiopacitiesconsistentwith phlebolithsin lesion.
Fig.
2. Multiple rounded,blue lesionson plantar aspect
of feet. A bluish,soft, well-marginatedhemangiomawaspresent in the sublingualregion.An anterior openbite with inability to closethe lips becauseof the sublingualhemangioma wasa prominentfeature. A smalllesion,8 X 6 mm,wasalso presenton the right lower lip. No bleedingwasobserved from the hemangiomaof the oral cavity. Indurated, stonelike nodulescouldbedetectedby palpationin the sublingual lesion. The patient wasadmittedto the hospitalfor examination on Aug. 16, 1986. Laboratory findings on admissionrevealed317 X 104/mmred blood cells,4.8 gm/dl hemoglobin, 16.8%hematocrit, and a serumiron level of 24 pg/dl. Resultsof other blood chemistry and serumimmunologic testswere normal. Her stoolwasdark brown and positive for occult blood.Radiographicstudiesshowedopenbite and multiple radiopaquelesionsin the sublingualregion, suggestingphleboliths(Fig. 3). A bariumcontraststudy of the gastrointestinal tract demonstratedsix sessilepolypoid filling defects,10to 20 mmin diameter,in the stomach(Fig. 4). Excisionalbiopsyof a foot lesionrevealeda hemangioma demarcatedby connectivetissue.The lesionconsistedof fibroustissuestromaand many dilated vascularspaceslined by a singlelayer of endothelialcells. Many of the lumens were empty, but somewerefilled with red bloodcells(Fig. 5). The pathologicdiagnosiswascavernoushemangioma. The patient wasgiven long-termoral iron supplementation. The anemiarespondedwell to the oral iron therapy, and her hemoglobinlevel remainedat about 10 to 12gm/ dl. Her parentsrefusedsurgicaltherapy for her sublingual and stomachhemangiomas.
Fig. 4. Barium contrast indicative of probablehemangiomasin stomachjnrrowsj. DISCUSSION
The blue rubber bleb nevus syndrome is an uncommon disorder characterized by cutaneous cavernous hemangiomas associated with hemangiomas of the gastrointestinal tract. * The typical cutaneous hemangioma of this syndrome has a blue, rubber nipple-like appearance, hence the name. Bleeding from the lesions in the gastrointestinal tract usually leads to iron deficiency anemia.2 The present case occurred in a lo-year-old girl with 42 blue hemangiomas on her
86
Sumi, Taguchi, and Kaneda
ORAL
SURC
ORAL
MED
ORAL
January
5. Microscopic appearance of bluish elevated lesion from sole of foot. Dilated vessels are seen at subcutaneous region. (Hematoxylin-eosin stain; original magnification,
Fig.
X40.)
skin, many involving the sublingual region. Subsequent examination revealed severe iron deficiency anemia, and the results of a barium contrast study indicated six lesions in the stomach, suggestive of hemangioma. Her symptoms were consistent with the clinical diagnosis of blue rubber bleb nevus syndrome. When bleeding from the gastrointestinal tract is significant and hemangiomas are confined to a regional segment, resections of the involved segments are recommended.3 As in our case, if the lesions are diffuse and bleeding episodes are mild, conservative treatment is usually adequate, because satisfactory hemoglobin levels have been observed to be maintained for more than 3 years. In such cases continuous iron therapy is the mainstay of treatment. As in the case reported here, most instances of this syndrome show no family history; however, eight cases with a positive family history have been described and an autosomal dominant mode of transmission has been proposed.4 More than 55 cases have been reported under the name of this syndrome in the English-language literature and more than 33 cases in the Japanese literature. The lesions have been described in the oral cav-
PATHOI.
1991
ity, oropharynx, nasopharynx, esophagus, stomach, small bowel, colon, rectum, anus, peritoneal cavity, mesentery, liver, lung, glans penis, eye, and central nervous system.3 Most of these cases have been reported in dermatology journals, whereas only a few have appeared in the dental literature.5-7 This syndrome is well known among dermatologists and gastroenterologists but not generally among oral surgeons or dentists. Tsuda et al6 studied 74 cases of this syndrome and reported that 59% of the patients had oral hemangiomas. In addition, Fukuo et a1.7 reported that 64% of the patients had hemangiomas in the oral cavity. We direct attention to this syndrome because, although rare, it is usually associated with the oral cavity. Examination of the gastrointestinal tract and testing for iron deficiency anemia should be undertaken when multiple oral and cutaneous hemangiomas are associated. We conclude that in the case of a patient with oral hemangiomas and bluish skin nevi, the blue rubber bleb nevus syndrome should always be considered in the differential diagnosis. REFERENCES 1. Bean WD. Vascular spiders and related lesions of the skin. Springfield, Ill: Charles C Thomas, 1958:178-85. 2. Baker AL. Kahn PC. Binder SC. et al. Gastrointestinal bleeding due to blue rubber bleb nevus syndrome. Gastroenterology 1971;61:530-4. 3. Sandhu KS, Cohen H, Radin R, et al. Blue bleb nevus syndrome presenting with recurrences. Dig Dis Sci 1987; 32:214-9. 4. Kisu T, Yamaoka K, Uchida Y, et al. A case of blue rubber bleb nevus syndrome with familial onset. Gastroenterol Jpn 1986;21:262-6. 5. Crosher RF, Blackburn CW, Dinsdale RC. Blue rubber-bleb naevus syndrome. Br J Oral Maxillofac Surg 1988;26:160-4. 6. Tsuda Z, Iida M, Satoh T, et al. A case of blue rubber bleb nevus syndrome [Abstract]. J Jpn Stomatol Sot 1985;34:879. I. Fukuo M, Okuda T, Yasuoka T, et al. Blue rubber bleb nevus syndrome: report of a case. Jpn J Oral Maxillofac Surg 1986;32:627-30. Reprint requests to. Yasunori Sumi, DDS, PhD Department of Oral and Maxillofacial Komaki City Hospital I-20 Jofusi Komaki, 485, Japan
Surgery
