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Dysmorphology

Skin

QuestionAnswer
Largest organ of the body skin
Is an organ and an organ SYSTEM skin
Three layers of skin 1. Epidermis 2. Basal Layer 3. Dermis
Epidermis 1. derived from surface ectoderm 2. migrate from neural tube in circumferential bands
Basal layer -Second layer of skin -Rapidly dividing -Replaces surface cells as they slough off
Dermis - bottom layer of skin before subcutaneous tissue -derived from mesoderm
Skin structures 1. Melanoblasts/melanocysts 2. Hair follicles 3. Sebaceous glands 4. Mammary glands 5. Nipple/areola
Melanoblasts/melanocysts 1. Neural crest in origin 2. Located in basal layer
Sebaceous glands 1. Secrete sebum
Sweat glands 1. originate from surface ectoderm
Mammary glands 1. highly modified sweat glands 2. Mammary ridge- week 3 involuate by week 10-12 3. Supernumary nipple- on line of descent of ridge
Skin pigmentation 1. Eumelanin 2. Pheomelanin
Eumelanin brown, everyone has a lot
Pheomelanin Red color (as in red hair) multi-genetic
Skin growth 1. Passive growth (only grows in embryonic period and in response to other structures growing)
Landmark and Measurements 1. Texture 2. Pigmentation 3. Thickness 4. Mobility 5. Elasticity 6. Strength 7. Creases 8. Dermatoglyphs 9. Blaschko's lins
Hyperelasticity 1. Ehler's Danlos 2. Marfans 3. Other connective tissue DOs
Skin is thickest on what part of the body? The back
Creases signify... 1.Joint movement 2. in-utero movement
Dermatoglyphs -Fingerprints -Loops, whirls, Arches (high in DS)
Blascko's lines Mosaicism for skin problems
Minor anomalies 1. Nevi- Hamartomatous - Vascular -
Mongolian spot 1. Minor anomaly 2. Pigmented nevi 3. on lower back
Cafe-au-lait spot -Minor anomaly 1. Pigmented nevi 2. NF
Freckles -Minor anomaly 1. Pigmented nevi 2. NF
Lentigines -Minor anomaly 1. Pigmented nevi 2. 100s and 1000s 3. Darker 4. Lepard Synfrome, PTPN11 & RAF1
Coastal Maine 1. Less typical of NF 2. More typical of McCume-Albright syndrome
Hamartomas... what are they? benign collections of mixed types of cells but in right area, but wrong specific place (ie. colon cancer syndromes) -Follow blaschko spots -Epidermal nevi are usually benign -Angiofibromas- small, red, raised, brown
Epidermal nevi on the face signify Brain malformation, seizures!
Nevi on the face + groin Fabry Syndrome (lysosomal storage DO)
Nevi on the face Tuberous sclerosis (hypopigmented ash leaf)
Tumors under fingernails Shagreen patches
Vascular Nevi -"Nevus flammeus" -"Stork bite" or "angel kiss" - 1/2 of all newborns
Nevus flammeus/angel kiss/stork bite are very common in kids with Beckwith Weidemann Syndrome
Vascular nevi- port wine stain -Dialated capillaries -Forehead
Telangiectases varicose veins
Port wine stains are very common in what syndrome? Sturge-Weber syndrome
What is struge-weber syndrome? -Port wine stains are common - Usually sporadic - Overgrowth of certain body parts
Raised vascular nevi- two types - Capillary -Cavernous hemangionomas
Capillary hemangiomas "Strawberry marks" Generally regress spontaneously
Cavernous hemangiomas -Darker, deeper down in dermis -Overgrowth? BWS -"Bag of worms: -Not too serious -Tends to regress
Deformations of the skin 1. Redundant neck skin (Noonan and Turner) 2. Redundant abd. skin (Prune belly) 3. Abnormal skin creases (simian crease)
Dysplasias of the skin (structural changes in the dermis or epidermis) 1. Cutis laxa 2. Hyperelasticity 3. Ichthyosis 4. Epidermolysis bullosum
Dysplasias of the skin (pigmentary abnormalities) 1. Hypopigmentation 2. Hyperpigmentation
Cutis laxa -Dysplasia/structural change in the dermis/epidermis - Menke's syndrome (X-linked and copper transport problems)
Hyperelasticity -Dysplasia/structural change in the dermis/epidermis - Ehler's Danlos
Ichthyosis -complete lack of elasticity to the skin -Harlaquin icthiocosis -Vulgarus (pretty common type) - X-linked you see a lot in prenatal (Low level of estriol)
Epidermolysis bullosum -Inadequate bond between dermis and epidermis -Fluid filled postules - Gene is right next to the ocular albinism genes (contiguous gene syndrome)
Premature thelarche -Dysplasia? - Premature breast development - abn. secretion of hormones - abn. response to normal hormones - Do endocrine work-up on pituitary tumors
Absence of the sweat glands - Dysplasia - Ectodermal dysplasia - Anhydrotic: males who can't sweat have ABNORMAL TEETH - Hypohydrotic: Females(X linked) don't sweat enough, have heat intolerance, abnormal teeth and hair, deep set eyes
Malformations - Cutis aplasia - Absence of the dermis w. intact epidermis (Focal dermal hypoplasia) -Skin tumors
Cutis aplasia is often seen in... Adams-Oliver syndrome (no dermis OR epidermis)
Focal dermal hypoplasia is often seen in... Goltz syndrome
Types of skin tumors 1. Neurofibromas 2. Lipomas 3. Xanthomas 4. Nevi 5. Shagreen patches
Types of localized pigmentary abnormalities 1. Hypopigmentation 2. Vitiligo 3. Piebaldism 4. Swirled hypo/hyper-pigmentation 5. Hyperpigmentation 6. Brown/black macules 7. Acanthosis nigricans 8. Poikiloderma
NF Skim tumors 1. Neurofibromas 2. Plexiform neurofibromas (diffused and deep in tissue, often involves nerves)
Lipomas Autosomal Dominant - Increase in frequency with age
RAS Pathway and NF neurofibromas appear in teenage years
Xanthomas seen in Hypercholesterolemia -Fatty tumors - True dominants are VERY SEVERE
Giant hairy nevi is usually... congenital
Congential moles/nevi are usually... isolated
Characteristics of dysplastic nevi 1. Asymmetry 2. Irregular borders 3. Change in color 4. Greater than 0.6 cm Higher risk of melanoma Pretty serious
Characteristics of shagreen patches 1. Thickened, bumpy skin patches 2. Peau d'orange -Tuberous sclerosis
Hypopigmentation of the skin -Ash-leaf spots -Tuberous sclerosis
Piebaldism -Isolated or familial - Waardenburg syndrome
Vitiligo - Usually autoimmune - Start loosing patches overtime
Swirled hypopigmentation -Hypomelanosis of Ito vs. Incontentia pigmenti - Don't cross midline - Single gene, X-linked - Often lethal in females - Better prognosis for males than females -Some are mosaic
Blasckos Lines 1. Incontentia pigmenti 2. CNS> MRDD 3. Teeth and hair problems 4. Four stages... 1)Blistered skin at birth (2) Thickened/raised skin (3) Flattened pigmentation (4) Linear hypopigmentation
Hyperpigmentation of skin - Multiple lentigines - Brown/black macules(mucous membranes)
Brown/black macules of mucous membranes are typically seen in what syndrome? Peutz-Jehgers (colon cancer, AD)
Acanthosis nigricans are typically seen in what DO? Pre-diabetes/ sign of glucose resistance (on nape of neck and nuchal axillary
Poikiloderma Mixture of hypo, hyper, and normal skin... PTEN Gene
PTEN Gene sign freckled end of penis
Created by: Kali Chatham Kali Chatham on 2010-03-14



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