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755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels which lead to disfigurement, overgrowth, stroke, pain and/or life-threatening bleeding, depending on the vessel size and the body site. Therapeutic options are severely limited and multi-disciplinary management remains challenging. To investigate the pathogenesis of 160 sporadic intracranial and extracranial VMs in which known genetic causes had been excluded, sequencing of affected tissue DNA was undertaken using next generation sequencing optimised for detection of low mutant allele frequency.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S. Polubothu, L. Al-Olabi, K. Dowsett, K. Andrews, P. Stadnik, R. Knox, W. Baird, M. Glover, C. Moss, A. Thomas, L. Biesecker, R. Semple, E. Patton, V. Kinsler Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

Adult-onset blue rubber bleb nevus syndrome (BRBNS) associated with fatal stroke: Rare but important
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by vascular malformations on the skin and visceral organs. First described in 1860, there are only around 200 case reports in the literature. A typical cutaneous lesion is nipplelike and bluish that easily compresses and refills slowly. Extracutaneous lesions most frequently affect the gastrointestinal (GI) system, causing bleeding and chronic anemia. Besides the GI systems, it has also been shown to affect multiple organs, including the central nervous system (CNS).
Source: Journal of the American Academy of Dermatology - May 31, 2017 Category: Dermatology Source Type: research

Autologous fat transfer–induced facial nodule
We present another rare side effect: localized nodular calcification.
Source: Journal of the American Academy of Dermatology - July 21, 2013 Category: Dermatology Authors: Lindsey A. Brodell, Alejandro A. Gru, Bruce Haughey, Eva A. Hurst Tags: JAAD Online Source Type: research