A case of blue rubber bleb nevus syndrome with familial onset

Kisu, Tatsuro; Yamaoka, Kotaro; Uchida, Yasufumi; Mori, Hisao; Nakama, Terutsugu; Hisatsugu, Takeharu; Miyaji, Hiroshi; Motooka, Makoto

doi:10.1007/bf02774569

Cited by 28 publications

(16 citation statements)

References 7 publications

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“…Reported in 1:14,000 births, this syndrome is described typically as a sporadic genetic mutation, although there are case reports of autosomaldominant transmission. [3][4][5][6] Associated cutaneous lesions vary in size, shape, and color. Lesions are thin walled, and after compression, an empty sac slowly refills.…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome

Galey

Bharadwaj²,

Crimmins³

et al. 2016

A & A Case Reports

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Section: Discussionmentioning

confidence: 99%

Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome

Galey

Bharadwaj²,

Crimmins³

et al. 2016

A & A Case Reports

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“…5,19,24,35 Variable penetrance may be operant in this condition, and there may be increased penetrance in males. The BRBNS, as originally described by Bean in 1958, 3 includes characteristic bluish cavernous hemangiomas of the skin in association with cavernous hemangiomas of the gastrointestinal tract.…”

Section: Neurocutaneous Vascular Hamartomasmentioning

confidence: 99%

Hereditary neurocutaneous angiomatosis

Leblanc¹,

Melanson²,

Wilkinson³

1996

Journal of Neurosurgery

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The authors report the coexistence of vascular nevi (hemangiomas and arteriovenous malformations (AVMs) of the skin) with AVMs and venous malformations of the brain in male siblings from two related but nonconsanguineous families of three generations. The proband, his siblings, parents, aunts, uncles, and cousins were examined, underwent magnetic resonance (MR) imaging and MR angiography, and when appropriate, cerebral angiography. A father had vascular nevi and a mother, his sister, had an azygos anterior cerebral artery. No other cutaneous or cerebrovascular malformations were present in the parents. Each of the two families had two boys and one girl, 9 to 18 years of age. All the children had vascular nevi and all of the boys had coexisting cerebrovascular malformations: AVMs in three, and a venous malformation in another. One boy had three cerebral AVMs. Two boys had a cerebral hemorrhage, and one also had focal motor seizures. The skin lesions were not those of the Sturge-Weber-Dimitri, Rendu-Osler-Weber, or Wybum-Mason syndromes. The association of cutaneous and cerebrovascular malformations was seen only in males in these families. but females have also been reported in the literature. The results obtained in these families and three other families reported from Western and Central Europe indicate that the association of cerebral and cutaneous vascular hamartomas constitutes a distinct, hereditary clinicopathological entity with autosomal dominant inheritance and variable penetrance. The clinical manifestations of this syndrome are visible, painful vascular nevi, epilepsy, cerebral hemorrhage, and focal neurological deficits. The preponderance of male patients with the full expression of the syndrome suggests a possible hormonal influence on the expression of the gene.

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“…Bone deformity and joint problems have also been recorded 4. The disease is transmitted in an autosomal dominant inheritance pattern but it could occur sporadically 5 6. Treatment of this condition may be challenging due to its vascular nature and tendency for recurrence 7 8…”

Section: Introductionmentioning

confidence: 99%

Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia

et al. 2014

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We report a case in an adolescent male patient with a history of chronic fatigue, headache and unexplained iron deficiency anaemia since 2007. Numerous bluish-black lesions were found over his body surface. A surgical scar from a previous lumpectomy with a small lump were noted at the left submandibular region and another smaller lesion on the left lobe of the thyroid was also palpated. His most recent blood indices displayed the presence of moderately severe iron deficiency anaemia. Endoscopic evaluation exhibited multiple vascular lesions throughout the gastrointestinal tract. MRI of the brain revealed an irregular intracranial vascular lesion at the cerebellopontine angle. Further work-up with abdominal CT demonstrated the absence of similar lesions in the extraintestinal abdominal organs. Putting these together with histological findings, the diagnosis of blue rubber bleb naevus syndrome was confirmed. The patient was treated conservatively at this point and future management planning was discussed with him.

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A case of blue rubber bleb nevus syndrome with familial onset

Cited by 28 publications

References 7 publications

Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome

Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome

Hereditary neurocutaneous angiomatosis

Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia

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