How to Cite this Article: Lederer D, Wilson B, Lefesvre P, Vander Poorten V, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K. 2012. Atypical findings in three patients with Pai syndrome and literature review. Am J Med Genet Part A 158A: 2899–2904.
Atypical findings in three patients with Pai syndrome and literature review†
Version of Record online: 17 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2899–2904, November 2012
How to Cite
Lederer, D., Wilson, B., Lefesvre, P., Poorten, V. V., Kirkham, N., Mitra, D., Verellen-Dumoulin, C. and Devriendt, K. (2012), Atypical findings in three patients with Pai syndrome and literature review. Am. J. Med. Genet., 158A: 2899–2904. doi: 10.1002/ajmg.a.35592
- Issue online: 17 OCT 2012
- Version of Record online: 17 SEP 2012
- Manuscript Accepted: 2 JUL 2012
- Manuscript Received: 9 MAY 2012
- Fonds Marguerite-Marie Delacroix
Additional Supporting Information may be found in the online version of this article.
|ajmg_35592_sm_SupplFig1.tif||3840K||Data 1: Patient 1 polyp histology. Skin polyp protruding out of the nasal ostium with, centrally, lobules of mature fat cells in the reticular dermis, separated by fibrous tissue without identified capsule. Blood vessels are normal in composition and distribution (CD31 staining, not shown). No increase of fibroblasts or mast cells (CD 117 staining, not shown). Connective fibers show similar pattern in Trichrome staining to normal skin. The lesion is more similar to lipomas observed in lipodystrophic syndromes than nevus lipomatosus or classical lipomas.|
|ajmg_35592_sm_SupplFig2.tif||3144K||Data 2: Patient 3 polyp histology. A section through one of the polypoid lesions shows normal structures of epidermis, dermis and subcutis (X25), including hair follicles and sweat glands, shown also at x100.|
|ajmg_35592_sm_SupplFig3.tif||3085K||Data 3: Patient 3 polyp histology. A section through one of the polypoid lesions shows normal structures of epidermis, dermis and subcutis (X25), including hair follicles and sweat glands, shown also at x100.|
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