Wound Healing Flashcards
Ehlers Danlos Syndrome commonly presents as
Recurrent hernia (inguinal)
Coagulopathy
Platelet abnormality
Defect in collagen formation over half of affected manifesting genetic defects encoding alpha chains of type V
Friable skin Easy bruisibility Poor wound healing Atrophic scar formation Hyperextensible joints
Ehlers Danlos
Tall stature Arachnodactyly Lax ligament Myopia Scoliosis Pectus excavum Aneurysm of ascending aorta Hernia No delay in wound healing despite skin hyperextensibility
Marfan
Genetic defect in Marfan
Mutation in FBN1 encoding for fibrillin
Investigation of RLQ of abdomen for retraction which is an indication of intussuseption
Dance’s sign
Sausage shaped mass in right abdomen
Currant jelly stool
Vomiting
Intussuseption
Intussuseption xray finding
Coiled spring sign
Most common GI emergency in neonatal period
NEC
Most common risk factor in NEC
prematurity
Radiographic sign in NEC
Pneumatosis intestinalis
Neonatal infection resulting from inadequate care of umbilical cord
Umbilical stump is colonized with bacteria from maternal genital tract and environment
Spreads to abdominal wall or to umbilical or portal vessel liver and peritoneum resulting in sepsis
Omphalitis
Most common site of necrotizing enterocolitis
proximal colon
distal ileum
Mutation in FBN1 gene cause increased
TGFB signalling aortic wall
Brittle bones Osteopenia Low muscle mass Hernia Ligament and joint laxity
Osteogenesis imperfecta
OI is a mutation in
Type I Collagen
OI is also caused by mutation in the enzyme that cleaves c-terminal proline and hydroxyproline
prolidase
AD
Mild bone fragility
Blue sclera
OI Type I
Prenatal lethal AD Crumpled long bones Thin ribs Dark blue sclera
OI Type II
Progressively deforming, multiple fracture
Early loss of ambulation
AD/AR
OI Type III
Mild to moderate bone fragility
AD
Normal or gray sclera
Mild short stature
OI Type IV
Blistering and ulceration
Impairment in tissue adhesion within epidermis, bm, dermis resulting in tissue separation and blistering with minimal trauma
Epidermolysis bullosa
Dystrophic
AR
Epidermolysis bullosa is caused by mutation in this gene important in connecting epidermis to dermis
COL7A1
Epidermolysis bullosa types
Simplex
Junctional
Dystrophic
Kindler’s
Multiple blisters throughout different layers of skin
Kindler’s