GeneticsBannayan-zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: A case report and review of literature
Section snippets
Case report
A 41-year-old male presented with a 2–3 week history of numbness in both lower extremities. The numbness began in his toes and gradually ascended to his thighs. He also complained of mild leg weakness and poor balance. The patient suffered from an upper respiratory tract infection around the time that the numbness began. His symptoms were exacerbated by prolonged walking or standing and alleviated by lying down. Valsalva maneuvers did not worsen the symptoms.
His past medical history is notable
Discussion
This patient and many of his family members display the characteristic hamartomatous lesions previously described in BZS, namely multiple lipomas and hemangiomas. Hamartomas with lymphangiomyomatous differentiation or mixtures of the above histologic components have also been seen [6]. Most of the lesions are slow growing and subcutaneous lipomas are easily resectable. However, locally aggressive behavior may occur, as reported in a case of lipohemangioma that required leg amputation because of
Acknowledgements
We thank Valarie Lindgren, Ph.D. (Director, Cytogenetics, Loyola University Medical Center) for doing the chromosomal analysis in her lab and for her helpful review of the manuscript.
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The Bannayan-Zonana syndromeAn autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors
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2018, Spine JournalCitation Excerpt :However, spinal AVMs or AVFs have rarely been described in association with such genetic syndromes. To our knowledge, there have been only a few reports of PHTS-related spinal vascular disease, including a case of an extradural spinal hemangioma with Bannayan-Zonana syndrome [17], a paraspinal AVF with Lhermitte-Duclos disease [18], as well as a cervical paraspinal AVM [19] and a spinal dural AVF [20] in association with Cowden syndrome. The latter case was a 65-year-old man presenting similarly to our patient, with progressive weakness, sensory abnormalities, and urinary retention.
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2011, Annals of Vascular SurgeryCitation Excerpt :Our patient did not report any subcutaneous lesions of this nature. In a previous study, Gujrati et al. have also reported intracerebral and extradural spinal hemangiomas.5 The current literature makes the distinction between these subcutaneous lesions as compared with the vascular malformations of major vessels referred to as “visceral.”
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2005, Journal of the American Academy of DermatologyCitation Excerpt :The loss of PTEN function by mutations results in disorganized proliferation of cells and failure of developmentally programmed cell death.3 The main clinical consequence of a mutated PTEN genotype is the development of hamartomas derived from all 3 germ layers.7,12 At birth, affected infants are large for their gestational age, with weight exceeding 4000 g and length above the 97th percentile.20-22
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