Post Surgical Pyoderma Gangrenosum in flap surgery: diagnostic clues and treatment recommendations
Background: Post Surgical Pyoderma Gangrenosum (PSPG) is a neutrophilic dermatosis causing aseptic necrotic ulcerations within surgical sites. It is often misdiagnosed as infection or ischemia and worsened by the inappropriate treatment. Therefore diagnostic clues must be identified and awareness for PSPG raised.Methods: We present two cases of PSPG after flap surgery and a review of the literature.Results: Seventeen cases of PSPG after flap surgery were found. Fever, pain and redness are the most common initial symptoms. In 63%, lesions were on the flap and the adjacent skin. In 63%, the donor site is also involved. Time to diagnosis was nine days to four years. Frequent debridement (89%) …
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the <i>TWIST2</i> gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adul…