Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
114 Cards in this Set
- Front
- Back
|
Leser-Trelat sign
|
seb ks sassoc with internal malignancy
|
|
|
PNS cutaneous % of cancer patients
|
7 to 15%
|
|
|
PNS type of skin disorders?
|
Proliferative
Transforming growth factor alpha leads to K@ prolif |
|
|
% of DM II pts develop skin disorder
|
30%
|
|
|
DM II skin disorders
|
1. Candida
2. carotenodermia 3. diabetic bullae 4. diabetic dermopathy (shin spots) 5. diabetic thick skin 6. erythema (face, lower legs, feet) 7. external otitis 8. finger pebbles 9. foot ulcers 10. acanthosis nigricans (insulin resistance) 11. gas gangrene (nonclostridial) 12. granuloma annulare 13. insulin lipodystrophy 14. necrobiosis lipodica 15. yellow nails 16. peforating disorders 17. eruptive xanthomas |
|
|
Necrolibosis lipoidica (NL)
|
Rare unknown origin
50% DM II 20 – 30 yrs old female Anterior shins Trauma 13% Erythematous violaceous plaques, central area waxy yellow w telangiectasias, end stage w atrophy and telangectasias, dense fibrosis and ulceration |
|
|
Granuloma annulare
|
Assoc w dissmeninated GA and DM II
(DM II relapsing GA) Generalized GA (mc in HIV, all stages) |
|
|
Localized GA
|
Localized form: young adult females, lateral and dorsal feet
Papules w central depression, raised smooth popular erythematous border, annular rings Sun exposed areas |
|
|
Generalized Perforating GA
|
Umbilicated papules on extremities
Kids and young adults Transepi elimination of degenerating collagen fibers Hawaiian Islands |
|
|
Subcutaneous GA
|
Kids
PAINLESS sc nodules Shin, foot, or scalp (occiput) 4 yrs old Recur Resolve spon No sx illness |
|
|
GA treatment
|
Nothing for solitary lesion
Intralesional kenalog to raised border only Disseminated dapsone? Isotretinoin? |
|
|
Acanthosis Nigricans assoc w?
Classification? |
Obesity, DM II, cs, pineal tumors, endocrine disorders, nrugs, estorgens, adenoca
Classify Benign or mal |
|
|
Drug assoc w Acanthosis Nigricans
|
Nicotinic acid
|
|
|
NG mc area?
|
Axillae
|
|
|
NG histo
|
Papillary hypertrophy, hyperkeratosis, increase # melanocytes
|
|
|
Benign AN
|
Fasting plasma insulin levels
Circulating insulin w insulin-like growth factor receptors on K@ Endocrine syndromes assoc w AN? Insulin level at cellular level is decreased High levels of circulating insulin levels |
|
|
Type A syndrome
obesity? autoimmune? familial? causes? hormone levels? |
fHAIR-AN syndrome
No obesity or lipoatrophy No abs to insulin receptor or autoimmune (unlike type B) Familial type black women, AN infancy or childhood, virilization or accelerated growth Ovarian or adrenal gland tumors, polycystic ovaries, cong or aquired adrenal hyperplasia, cushings,drugs, gonadal dysgenesis AN generalized w rapid prog during preg AN high insulin levels High plasma testosterone Normal DHEA-S, 24 hr urinary 17-ketosteroids and 17-hydroxyprogesterone, normal LH and FSH |
|
|
Type B Syndrome
autoimmune? age? |
Older women avg 39 yrs
Autoimmune disease Circulating as to insulin receptors AN, DM II, AN, premenopausal women ovarian hyperandrogenism VULVA common AN in women |
|
|
Malignant AN
|
Nonobese
Insulin like activity or transforming growth factor alpha stim k@ prolif STOMACH mc Lesions rapid, severe Hyper pig not limited to hyperkeratotic areas Mm THICKENING PALMS SOLES ITCHING 1/3 skin before mal |
|
|
Xanthomas
|
1. xanthelasma
2. eruptive 3. plane 4. tuberous 5. tendinous |
|
|
Xanthelasma
|
Iinner or outer canthus
Plane or popular NO LIPID ABNL Increase freq apo E-ND phenotype and hyperapobetalipoproteinemia, type II |
|
|
Eruptive xanthomas
|
TGs
Erythematous base BUTTOCKS and EXTENSOR extremities Types I, II, IV, and rarely III, and DM II Resolve when TG normal |
|
|
Plane xanthomas
|
Palms, palmer creases, eyelids, face, chest
BILLIARY CIRRHOSIS Type III > type II, IV |
|
|
Tuberous Xanthomas
|
Lipids in dermis and sc
PAINLESS Plaque like and nodular ELBOWS and KNEES TG (familial or acquired) BILLIARY CIRRHOSIS Types II, IV |
|
|
Tendinous Xanthomas
|
Nodules elbows, knees, Achilles, dorsum hands and feet
MC ACHILLES and DORSAL FINGERS HYPERCHOLESTEROLEMIA Type II > type III PERSIST WITH TX |
|
|
Genetic dyslipidemias
Types? |
5 types
I, IIa, IIb, III, IV, and V |
|
|
Type I dyslipidemia
|
Chylomicrons
Increase TG Eruptive xanthomas |
|
|
Type IIa
|
dyslipidemia LDL
Increase CHOL Tendon, tuberous, and intertriginous xanthomas, xanthelasma |
|
|
Type IIb
|
dyslipidemia LDL and VLDL
Increase CHOL (slightly higher TG than type IIa) Tendons, tuberous, and intertriginoius xanthomas, xanthelasma |
|
|
Type III dyslipidemia
|
IDL
Increase CHOL = TB Palmar xanthomas Type IV dyslipidemia VLDL Increase TG Eruptive xanthomas |
|
|
Type V dyslipidemia
|
Chylomicrons and VLDL
Increase TG (slightly higher CHOL that type IV) Eruptive xanthomas |
|
|
Hypercholesterolemia
|
Nephritic syndrome
Hypothyroidism Dysgammagloulinemia Acute intermittent porphyria Obstructive liver disase |
|
|
Combined hyplipidemia
|
Nephrotic Syndrome
Hypothyroidism Cushings/elevated cs Diuretics Uncontrolled DM II |
|
|
Hypertriglyceridemia
|
DM
Uremia Sepsis Obesity SLE Dysgammagloulinemia Glycogen Sorgae disease type I Lipodystrophy Durgs ETOH Estrogens B-blockers Isotretinoin |
|
|
Xantelasma elevated ?
|
Elevated apolipoprotein B
|
|
|
Neurofibromatosis types?Cutaneous?
|
NF1 (cutantous)
NF2 (not cutaneous) |
|
|
NF genetic?
|
Auto dom
NF1 and NF2 |
|
|
NF1 or NF2 mc?
|
NF1
|
|
|
NF1
|
Skin, CNS, one, and endocrine
CAFÉ-AU-LAIT SPOTS AXILLARY FRECKLING CUTANEOUS NEUROFIBROMAS IRIS HAMARTOMAS (LISCH NODULES) Learning disabilities, scoliosis, optic glimoas |
|
|
NF2
|
Bilateral acoustic neuromas and other nerve tumors
Minimal skin |
|
|
Segmental NF5
|
Café-au-lait macules, freckling, and neurofiromas localized segement of body
|
|
|
NF1 gene
|
Chromo 17
|
|
|
NF2 gene
|
Chromo 22
|
|
|
NF1 cell type?
Sex? Incidence? |
Neural crest derived cells
M = F 1/3500 births Mc mutation |
|
|
NF1
|
Von Recklinghausen’s neurofibromatosis
|
|
|
NF1 dx?
|
6+ café-au-lait macules
1.5 cm post puberty 0.5 cm in prepuberty 2+ neurofibromas or 1+ plexiform neurofibromas Freckling axillae or inguinal Bilateral optic gliomas 2+ Lisch nodules Sphenoid wing dyslplasia or congential bowing or thinning of long bone cortex (w or w/o pseudoarthrosis) 1st degree relative with NF1 NF1 dx 2+ or more features |
|
|
NF palms soles?
NF at birth? |
Yes
Mc at puberty |
|
|
NF cutaneous tumors
|
3 types
Early dome shaped w violaceous hue BUTTON-HOLING Pedunculated |
|
|
Elepahntiasis neuromatosa
|
Diffuse tumor nerve trunks extends into surrounding tissue gross deformity
|
|
|
NF mal degen?
|
2% rare < 40yrs old
Neurofibrosarcoma or mal schwannoma |
|
|
Lisch Nodules
|
Pigmented melanocytic hamartomas
Increase w age Asymptomatic 60% > 7 yrs old NF1 pts Relatives of NF1 can have LNs Slit-lamp to r/o freckles Freckles flat lacework structure LNs raised dome brown papules bilateral eyes Not assoc w severity of NF1 |
|
|
Survival rates NF1
|
Worse for probands and women w probands
45% probands CNS tumors |
|
|
Systemic NF1
|
CNS tumors
Optic gliomas, astrocytomas, acoustic neuromas, menigniomas, neurilemomas Constipation HA MR Kyphoscoliosis Macrocpehaly Mal disease Neurofiroscarcoma Mal schwannoma Neuroalstoma Wilm’s tumor Rhabdomyoscarcoma Leukemia Pheo Premature or delayed puerty Pseudoarthrosis tibia, radius Seiures Sppech impediment Short stature |
|
|
Big head and MR or visual impairment infant
|
r/o NF
|
|
|
Segmental NF
|
NF 5
Rare only 100 cases Not genetic Postzygotic somatic mutation Cervical or thoratic |
|
|
NF penetrance and variability?
|
100% penetrance
Variable variability |
|
|
Highest severity infant mother or father affected?
|
Mother affected
% of NF parents not affected 50% |
|
|
Tuerous sclerois genetic
|
Auto dom w variable penetrance
2/3 sporadically 1/3 familial |
|
|
Tuberous sclerois sx?
|
Mult hamartomas skin,CNS, kidneys, heart, retina, and other organs
Skin: adenoma seaceum, shagreen patch, white macules , or periungual firomas |
|
|
TS incidence?
|
1/6000
|
|
|
Vogt Triad
|
TS
Triad only 25% of pts 1. Epilepsy 2. angiofibromas (adenoma sebaceum) 3. MR |
|
|
MR TS pts %
|
< 50%
|
|
|
TS tumors
|
Cortical tubers (difficult to distinguish fromisolated cortical dysplasia)
Suependymal giant cell astrocytomas (only one to enlarge) Suependymal nodules |
|
|
TS mc skin lesion?
|
Adenoma sebaceum
|
|
|
Adenoma sebaceum
|
Smooth firm yellow to pink papules
Benign hamartomas fibrous and vascular tissue Angiofibromas Nasolabial folds, cheeks, chins and occ forehead, scalp, ears Rare birth, appear 2 to 3 yrs then prolif puberty Forehead plaque (agniofiroma) BLEED |
|
|
Shagreen Patch % TS? Mc location? age? clinical?
|
80%
Lumbosacral region Early childhood Dermal connective tissue Soft flesh colored to yellow plaques w irregular surface pigskin |
|
|
Earliest skin sign TS?
|
Ash leaf macules
|
|
|
Ash leaf macules
|
Hypomelanotic macules
Oval, ash-leaf shaped, sippled or confetti shapes (most rare) Random distrution on arms, legs, trunk Earliest sign of T At birth Increase # and size Wood’s lamp accentuates lesions Bx melanocytes (unlike vitiligo) Tuft of white hair w no depig of scalp assoc w TS |
|
|
Periungual fibromas TS?
TS type of syndrome Tumor suppressor syndromes Uncontrolled prolif and tumor formation One inactiviating mutation in either TSC1 or TSC2 gen in all germ-line and somatic cells Expressiviy variable Normal parents new mutation |
At or after puberty
50% of TS |
|
|
Tubers
|
Sclerotic plaques TS patients
Giant cells and astrocytes in gray matter Calcium deposited in tumers CT after birth 90% of pts |
|
|
% pts with brain lesions TS w seizures?
|
90%
|
|
|
TS retina?
|
Gray or yellow retinal plaques 25%TS pts
|
|
|
Enamel pitting adult TS %
|
100%
|
|
|
TS type of syndrome
|
Tumor suppressor syndromes
Uncontrolled prolif and tumor formation One inactiviating mutation in either TSC1 or TSC2 gen in all germ-line and somatic cells Expressiviy variable Normal parents new mutation |
|
|
TSC1 or TSC 2 mc?
|
TSC 1 and TSC 2 equal for familial
TSC2 mc sporadic (severe neuro) |
|
|
TSC1 chromo?
|
Chromo 9
|
|
|
TSC2 chromo?
|
Chromo 16
|
|
|
TSC1 protein?
|
Hamartin
|
|
|
TSC2 protein?
|
Tuberin
|
|
|
Mosaicism TS?
|
Easy to detect Sporadic
Difficult to detect |
|
|
3 types brain lesions TS
|
1. cortical tubers
2. white matter abnormalities 3. subependymal nodules CT calcified subependymal nodules MRI cortical and white matter |
|
|
Cowden’s Syndrome
|
Multiple hamartoma syndrome
Auto dom incomplete pentrance variable expression Ectodermal, endodermal, and mesodermal BREAST or THYROID Mm |
|
|
Cowden’s most sensitive markers? Age? Progression?
|
Face papules and mm papillamatosis
20s, no grow by 30 TRICHILEMMONAS: either lichenoid flesh colored flat topped papules centrofacial or periofificial areas or flesh elongate verrucoid papillomatous clustered mouth, nose, eyes and ears |
|
|
Cowden’s cutaneous
|
Trichilemmomas
Acral keratoses (dorsal hands/feet) Palmoplantar keratosis Cobblestone mm |
|
|
Acral keratosis
|
Cowden’s
Dorsal hands/feet Look like warts Flesh colored flat papules |
|
|
Cowden’s mm lesions
|
Cobblestone, white smooth surfaced coalescence
Gingival, labial, palatal |
|
|
Cowden’s breast
|
30% ductal adenocarcinoma
60% fibrocystic 41 yrs breast cancer |
|
|
Muir-Torre Syndrome
|
Rare
Auto dom Sebaceous gland tumor and low grade internal mal Subtype of HNPCC (hereditary nonpolyposis colorectal cancer syndrome)hMSH2 gene mutation |
|
|
Muir-Torre Syndrome gene
|
hMSH2 gene mutation
|
|
|
Muir-Torre Syndrome skin
|
tumors Adenoma, sebaceoma, epithelioma, carcinoma
Trunk, face, scalp 20% single or multiple keartoacathomas Skin 53 yrs |
|
|
Sebaceous gland tumor
|
Muir-Torre Syndrome
r/o internal mal |
|
|
Muir-Torre Syndrome mc mal?
|
COLORECTAL
PROXIMAL OR AT SPLENIC FLEXTURE GU, breast, heme |
|
|
Muir-Torre Syndrome
Sex? |
M = F
|
|
|
MTS mc marker?
|
Sebaceous adenoma
|
|
|
Gardner’s Syndrome
Genetic? Penetrance? Sex? incidence |
Familial adenomatous polyposis w extraintestinal manifestations
Auto dom 100% penetrance M = F 1/8000 to 1/16000 births |
|
|
Gardner’s Syndrome chromo
|
Chromo 5q21 point mutations in germ line
|
|
|
Gardner’s Syndrome
|
Intestinal polyposis
Epidermal cysts 35%, head/neck, legs, childhood age 13 Multiple osteomas: skull and jaw Mesenteric fibromas Desmoid tumors pig ocular fundus lesion Unerupted teeth Ondontomas |
|
|
Epidermal cysts legs?
|
Gardner’s Syndrome
|
|
|
Dx carriers of Gardners?
|
x-ray jaws osteomas
|
|
|
Pig ocular fundus lesions Gardner’s
|
90%
Mult 4+ bilateral specific and sensitive dark pig, round, oval, or kidney shaped |
|
|
Gardners? Cancer?
|
Thyroid
F > M PAPILLARY MUTICENTRICITY 16 to 40 yrs, 23 yrs |
|
|
Gardner’s Colonic Polyps
Age |
Puberty
> 100 Asympomatic Progress to adenoca SULINDAC reduce # and size COLECTOMY |
|
|
Pseudoxanthoma Elasticum
|
Abnormal calicified elastic fibers
Variable expression 1/160000 Systemic, skin least severe organ Yellow papules flexural Accelerated atherosclerosis HTN, claudication, GI bleeding, angoid sreaks ocular fundus, blindess Calicifcationa nd fragmentation of elastic fibers dermis, media nad intima of bvs Dx 20 to 30s |
|
|
PXE genetic?
|
Auto dom and auto recessive
Variable expression 90% sporadic or auto recessive (Early onset 13 yrs old, 2F:1M) |
|
|
Retina PXE
|
Angiod streaks
Calcification of elastic fibers in Bruch’s membrane retina |
|
|
PXE mc skin?
Mc location |
Tiny yellow papules flexural arranged in lines
NECK and AXILLAE INNER LOWER LIP PLUCKED CHICKEN Teens |
|
|
Pseudoxanthoma Elasticum ocular changes
|
Angiod streaks 80%
Look like irregular bv Bilateral Bruch Membrane between retina and choroids, elastic and collagen Form rents w pig over rents > 20 yrs old +/- lose central vision Blindness rare Flouorescein angio show increased fluorescence early phase froma trophy of retinal pig epi overlying intact choriocapillaris Laser photcoag of choroidal neovascularl mems |
|
|
Peau d orange retina
|
posterior opole temporal to the macula changes in retinal pigment epi overlying calcifie and dengernating urch’s meambrane
Peau d orange Retina PXE Before angioid streaks |
|
|
Angioid streaks also seen in ?
|
Paget’s bone and sickle cell anemia
|
|
|
PXE gastric mucosa
|
Bleeding
Yellow papules gastric mucosa |
|
|
PXE bleeding?
|
Hemorrhagic diathesis
|
|
|
PXE dx
|
Can use nonlesional flexural bx
Dx histo Calcification and fragmentation and clumping of elastic fibers deep dermis or of scars |
|
|
Verhoeff-Vn Gieson stain PXE
|
Elastic fibers
|
|
|
Von Kossa stain PXE
|
Calcified elastic tissue middle and deep dermis
|
