Skin
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| Largest organ of the body | skin
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| Is an organ and an organ SYSTEM | skin
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| Three layers of skin | 1. Epidermis 2. Basal Layer 3. Dermis
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| Epidermis | 1. derived from surface ectoderm 2. migrate from neural tube in circumferential bands
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| Basal layer | -Second layer of skin -Rapidly dividing -Replaces surface cells as they slough off
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| Dermis | - bottom layer of skin before subcutaneous tissue -derived from mesoderm
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| Skin structures | 1. Melanoblasts/melanocysts 2. Hair follicles 3. Sebaceous glands 4. Mammary glands 5. Nipple/areola
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| Melanoblasts/melanocysts | 1. Neural crest in origin 2. Located in basal layer
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| Sebaceous glands | 1. Secrete sebum
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| Sweat glands | 1. originate from surface ectoderm
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| 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
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| Skin pigmentation | 1. Eumelanin 2. Pheomelanin
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| Eumelanin | brown, everyone has a lot
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| Pheomelanin | Red color (as in red hair) multi-genetic
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| Skin growth | 1. Passive growth (only grows in embryonic period and in response to other structures growing)
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| Landmark and Measurements | 1. Texture 2. Pigmentation 3. Thickness 4. Mobility 5. Elasticity 6. Strength 7. Creases 8. Dermatoglyphs 9. Blaschko's lins
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| Hyperelasticity | 1. Ehler's Danlos 2. Marfans 3. Other connective tissue DOs
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| Skin is thickest on what part of the body? | The back
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| Creases signify... | 1.Joint movement 2. in-utero movement
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| Dermatoglyphs | -Fingerprints -Loops, whirls, Arches (high in DS)
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| Blascko's lines | Mosaicism for skin problems
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| Minor anomalies | 1. Nevi- Hamartomatous - Vascular -
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| Mongolian spot | 1. Minor anomaly 2. Pigmented nevi 3. on lower back
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| Cafe-au-lait spot | -Minor anomaly 1. Pigmented nevi 2. NF
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| Freckles | -Minor anomaly 1. Pigmented nevi 2. NF
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| Lentigines | -Minor anomaly 1. Pigmented nevi 2. 100s and 1000s 3. Darker 4. Lepard Synfrome, PTPN11 & RAF1
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| Coastal Maine | 1. Less typical of NF 2. More typical of McCume-Albright syndrome
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| 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
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| Epidermal nevi on the face signify | Brain malformation, seizures!
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| Nevi on the face + groin | Fabry Syndrome (lysosomal storage DO)
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| Nevi on the face | Tuberous sclerosis (hypopigmented ash leaf)
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| Tumors under fingernails | Shagreen patches
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| Vascular Nevi | -"Nevus flammeus" -"Stork bite" or "angel kiss" - 1/2 of all newborns
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| Nevus flammeus/angel kiss/stork bite are very common in kids with | Beckwith Weidemann Syndrome
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| Vascular nevi- port wine stain | -Dialated capillaries -Forehead
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| Telangiectases | varicose veins
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| Port wine stains are very common in what syndrome? | Sturge-Weber syndrome
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| What is struge-weber syndrome? | -Port wine stains are common - Usually sporadic - Overgrowth of certain body parts
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| Raised vascular nevi- two types | - Capillary -Cavernous hemangionomas
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| Capillary hemangiomas | "Strawberry marks" Generally regress spontaneously
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| Cavernous hemangiomas | -Darker, deeper down in dermis -Overgrowth? BWS -"Bag of worms: -Not too serious -Tends to regress
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| Deformations of the skin | 1. Redundant neck skin (Noonan and Turner) 2. Redundant abd. skin (Prune belly) 3. Abnormal skin creases (simian crease)
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| Dysplasias of the skin (structural changes in the dermis or epidermis) | 1. Cutis laxa 2. Hyperelasticity 3. Ichthyosis 4. Epidermolysis bullosum
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| Dysplasias of the skin (pigmentary abnormalities) | 1. Hypopigmentation 2. Hyperpigmentation
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| Cutis laxa | -Dysplasia/structural change in the dermis/epidermis - Menke's syndrome (X-linked and copper transport problems)
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| Hyperelasticity | -Dysplasia/structural change in the dermis/epidermis - Ehler's Danlos
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| 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)
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| Epidermolysis bullosum | -Inadequate bond between dermis and epidermis -Fluid filled postules - Gene is right next to the ocular albinism genes (contiguous gene syndrome)
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| Premature thelarche | -Dysplasia? - Premature breast development - abn. secretion of hormones - abn. response to normal hormones - Do endocrine work-up on pituitary tumors
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| 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
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| Malformations | - Cutis aplasia - Absence of the dermis w. intact epidermis (Focal dermal hypoplasia) -Skin tumors
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| Cutis aplasia is often seen in... | Adams-Oliver syndrome (no dermis OR epidermis)
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| Focal dermal hypoplasia is often seen in... | Goltz syndrome
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| Types of skin tumors | 1. Neurofibromas 2. Lipomas 3. Xanthomas 4. Nevi 5. Shagreen patches
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| 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
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| NF Skim tumors | 1. Neurofibromas 2. Plexiform neurofibromas (diffused and deep in tissue, often involves nerves)
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| Lipomas | Autosomal Dominant - Increase in frequency with age
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| RAS Pathway and NF | neurofibromas appear in teenage years
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| Xanthomas seen in | Hypercholesterolemia -Fatty tumors - True dominants are VERY SEVERE
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| Giant hairy nevi is usually... | congenital
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| Congential moles/nevi are usually... | isolated
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| 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
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| Characteristics of shagreen patches | 1. Thickened, bumpy skin patches 2. Peau d'orange -Tuberous sclerosis
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| Hypopigmentation of the skin | -Ash-leaf spots -Tuberous sclerosis
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| Piebaldism | -Isolated or familial - Waardenburg syndrome
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| Vitiligo | - Usually autoimmune - Start loosing patches overtime
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| 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
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| 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
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| Hyperpigmentation of skin | - Multiple lentigines - Brown/black macules(mucous membranes)
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| Brown/black macules of mucous membranes are typically seen in what syndrome? | Peutz-Jehgers (colon cancer, AD)
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| Acanthosis nigricans are typically seen in what DO? | Pre-diabetes/ sign of glucose resistance (on nape of neck and nuchal axillary
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| Poikiloderma | Mixture of hypo, hyper, and normal skin... PTEN Gene
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| PTEN Gene sign | freckled end of penis
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Created by:
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