boards’ fodder Heritable Disorders of By Margaret Mioduszewski, MD

Mutation Inheritance Clinical Hints Need more Boards’ Ehlers Danlos Classic- COL 5, tenascin X Classic-AD Classic-hyperextensible All subtypes AD, except 2 syndrome and joints, easy bruising, ‘fish (kyphoscoliosis, dermatodp- Fodder? Visit the - COL3, Hypermobility-AD (6 subtypes) mouth’ wide atrophic scars araxis) NEW Boards’ tenascin X Vascular-AD Hypermobility – smooth and Important for these patients to Fodder archives Vascular- COL3 at www.aad.org/ Kyphoscoliosis-AR velet like skin, joint hypermo- avoid contact sports! Kyphoscoliosis- lysyl bility, pain, dislocations Arthrochalasia-AD Examine 1st degree family BFarchives. hydroxylase Vascular – thin and fragile skin, members! Dermatosparaxis-AR Arthrochalasia-COL1 arterial and visceral rupture (GI or uterine) Dermatosparaxis- Procollagen Kyphoscoliosis- fish mouth’ wide atrophic scars, easy bruising, in neon- taes, ocular rupture, marfanoid habitus Arthrochalasia- joint hypermo- bility, fragile skin and extensi- ble, congenital hip dislocation Dermatosparaxis- skin fragility, saggy redundant skin, , premature rupture of fetal membranes Pseudoxanthoma ABCC6 AR Yellow papules, coalescing ‘Plucked chicken skin’ Elasticum into plaques over redundant, lax and soft skin folds, yellow papules on labial mucosa, angioid streaks in eyes, risk of miscarriages Cutis Laxa ELN, -4, Fibrillin-5 AR or AD Sagging inelastic skin, pulmo- Great variability in subtypes nary emphysema, urinary and clinically. diverticuli ‘Hound dog facies’ -lack recoil -premature aged appearance -vocal cord laxity  deep voice Others: Fibrillin-1 AD Striae, elastosis perforans Think ‘upward’ dislocation of serpiginosa, upward disloca- b/c so tall tion of lens, aortic , kyphoscolsis, tall stature Cystathione beta synth- AR Downward dislocation of lens, Downward dislocation of lens ease malar flush, livedo reticularis, diffuse pigmentary dilution, marfanoid habitus, osteoporsis, Osteogenesis COL 1 AD Thin skin, blue sclerae imperfecta Buschke- LEMD3 AD Dermatofibrosis lenticularis Ollendorrff syn- disseminata (connective tissue drome nevi), DeBarsy syn- mRNA AR Growth retardation, joint laxity, drome ocular defects, musculoskel- etal abnormalities Williams syn- Allelic deletion of elastin AD Aortic stenosis, velvety skin, drome dysmorphic facies

Stains for Heritable Disorders of Connective Tissue Margaret Substance Stain Mioduszewski, MD Elastin Verhoeff van gieson, Orecin is a PGY-4 and a Calcium Von Kossa Dermatology resident

at Ottawa University References: in Ottawa, Ontario, Bolognia, Chapter 97, Heritable Disorders of Connective Tissue. Canada Fitzpatick, Chapter 63. Structure and Function of Skin course at AAD, Dr. Jouni Uitto, “ in acquired and inherited skin disease.” Spitz Genodermatoses, Chapter 4: Disorders of Connective Tissue.

irinections D­Residency p. 1 • Spring 2014