Genodermatoses/systemic disease Flashcards by C P

Hyperkeratotic papules and plaques in intertriginous areas, yellow-brown or reddish, firm coarse like sandpaper on the upper trunk and neck, malodorous in intertriginous areas, may manifest as painful fissures

Darier-Darier

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Nail manifestations of darier-darier

longitudinal broad red/white stripes
v shaped nick at free edge of nail

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Palmar pitting and cobblestone pattern of small papules on mucous membranes with gummy overgrowth

darier-darier

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Symmetrical painful crusted erosions, red and raw blistered, macerated skin fold, resolves w/out scarring, central clearing with lesion expansion

Hailey hailey or “benign chronic pemphigus’

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what are hailey hailey paitents at risk for?

eczema herpeticum
bacterial infection

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what triggers darier darier

sun exposure, friction/heat, sweat

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scaly erythematous red papules pronounced in intertriginous and scalp

langerhans histiocytosis

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treatment of Langerhans histiocystosis

hydroxyurea
methotrexate

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Affects one leg, buttock to foot, spreads over months-years birth to 5 years, present in the lines of blaschko

Birthmark due to overgrowth of the epidermis (ILVEN)

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If you diagnose keratoderma, what should you do

genetic workup w/ biopsy

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treatment goals of palmoplantar keratoderma

Soften the thicken skin.

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Tuberous Sclerosis Complex

inherited autosomal dominant diseases

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presents 3-10yr old
small pink or red spots in butterfly distribution

NF1

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Lisch nodules
6 or more cafe au lait
multiple Neurofibroma

NF1

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Shagreen patch is the hallmark-flesh colored or orange peel connective tissue nevi, most common in lower back

Tuberous sclerosis

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Nail findings of TSC

smooth firth flesh colored emerging from nail fold, longitudinal groove in the nail, splinter hemorrhage

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Ash leaf marks are the hall mark sign of ? (white ash leaf shaped marks)

TSC

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Ichthyosis hallmark sign

Fish scale surprise, dry thickened scaling skin

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present at birth
mutation in filaggrin gene
increased association with atopic triad/keratosis pilaris
hyperlinearity of palms/soles

Ichythosis vulgaris

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X linked icthyosis puts patient at high risk of

higher risk of cryptorchism and testicular

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Painful hyperkeratosis involving the hair, nails or mucosal surfaces, palmoplantar hyperhidrosis

PPK

soften skin with keratolytics, exfoliative- urea 20-40%

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ash-leaf spots- hypopigmented macules
angiofibromas- bilateral face
shagreen patches- connected tissue nevi usually on lower trunk
forehead fibrous plaques (yellow tan plaques)
ungual fibromas under nail plate
extracutaneous brain lesion, dental abnorm, cardiac, ocular, pulmonary, hepatic and renal manifestations

TSC

goal is early ID and referral

How to treat Darier-Darier?

off label treatments include

retinoids, corticosteroid

How to treat Hailey Hailey

clindamycin or mupirocin x 4 weeks
topical keto cream for suspected secondary fungal infections
TCS &/or TCIs

yellowish flat papules/plaques most often upper eyelids (trunk,neck, axillae) if occurs btw digits, sign of familial

xanthomas/xanthelasma fasting lipids

reactivation of latent varicella zoster virus >4 months after resolution of skin eruption most common in a facial eruption sharp, stabbing burning pain; constant or intermittent

postherpetic neuralgia gabapentin or pregabalin mild topical capsaicin or lidocaine for short term relief Moderate to severe: carbamazepine, amitriptylline, desipramine, fluoxetine, or paroxetine

Usually from vertebral column disease, circumscribed area of back, usually scapular border, midback, hyperpigmentation

NOTALGIA PARASTHETICA capsaicin cream/patch gabapentin TCS botox

Patient presents with a hx of back and neck pain with complaints of itching, burning and stinging on the dorsolateral forearm, symptoms worsen with heat, improve with cold?

brachioradial pruritus TX with: topical capsaicin, gabapentin, fluoxetine, amitriptyline, doxepin

Patient complains of anogenital itch, no rash is present?

neuropathic anogenital pruritus

Impacts patient QOL, symmetrical hyperkeratotic, excoriated nodules and papules tingling and stinging present

Prurigo Nodularis dupixent- 2022 TCS SSRIs, TCAs, antiseizure drugs, sedatives, psychotherapy

pruritus without primary lesions, often secondary lesions from scratching. Workup:

Medical HX CBCw/diff lft renal panel Thyroid function test skin biopsy H&E skin biopsy for DIF and serum for ELISA

Great imitator

sarcoidosis

often erupted in scars, tattoos, facial keloids. lupus pernio in nose and cheeks lacrimal gland enlargement APPLE JELLY BROWN YELLOW APPEARANCE thick smooth plaques with little if any epidermal changes

Sarcoidosis biopsy will reveal non-caseating granulomas superficial and deep dermis; macrophages and histiocytes.

If there is sarcoidosis involvement near nose/mouth there is

high risk 90-95% of pulmonary involvement

strong association with DM Multiple pink/brown/yellow plaques w/ atrophy, telangiectasia and ulcerations common on pretibial area, commonly young adult and middle age women.

Necrobiosis Lipoidica full thickness punch biopsy treat with cortico steroids (ILK & TOPICAL)

Woman in her 30s-60s will present with very sick appearance, febrile with sudden onset of painful, juicy plaques, vesicles & bullae on the face, neck and dorsal hands. What is your dx? How will you treat?

Sweet's syndrome systemic corticosteroids for quick relief dapsone for severe/recalcitrant

What medications can cause sweets syndrome? what disease processes and surgeries can cause?

- isotretinoin, ocp, furosemide, tetracycline, hydralazine, bactrim -Intestinal bypass surgery, URI, Strep infection, Hashimoto's thyroiditis, Sjogren's syndrome

Patient presents with a shallow ulceration that has spread quickly, reports pain. Upon examination you find a purulent base with necrosis, a border that expands centrifugally with underminded edges? What do you suspect and what should you do next?

PG DO NOT SURGICALLY DEBRIDE. - first line topical, ILK or systemic corticosteroid Referral to specialist including wound care, gastroenterology, hematology

most common skin CA slow growing, uncommon to metastasize inactivation of pTCH tumor suppression gene mutations in hedgehog pathway

Basal Cell CA

pink, smooth pearly papule/nodule with rolled border, telangiectasia or arborizing blood vessels, ulceration/pigmentation may be present

Nodular BCC

butterfly rash with erythematous pathches/plaques with bullous, discoid or erosions

acute cutaneous LE

annular, polycyclic w/ central clearing and psoriasiform, not below the waist

subacute cutaneous LE

DX testing for lupus erythematous

punch w/ dif CBC w/ diff, sed rate, ana panel, UA

1st line treatment for LE

hydroxychloroquine, bt has decreased efficacy in smokers

Do not give these patients hydroxychloroquine

g6pd insufficiency myasthenia gravis

what drugs commonly cause drug induced lupus erythematous

hydralazine, procainimide, anticonvulsants, minocycline, sulfonamides

polycyclic, annular or bullous rash on scalp or periorbital (owl eyes)

Neonatal lupus

coin shapes thick, dark, scaly plaques present on face, scalp, conchal bowl, palate, CARPET TACK SCALE

DLE biopsy for H&E no FDA approved treatment

why is lupus pernio pertinent finding?

cutaneous sarcoidosis finding

circumscribed ivory colored, sclerotic fixed plaques with violaceous border, face (en coup de sabre), linear extremities/forehead TX with: topical corticosteroids Off label MTX, hydroxychloroquine, mycophenolate

LOCALIZED SCLERODERMA

What does CREST stand for

calcinosis, raynaud's esophageal dysfunction, sclerodactyly, telangiectasia

heliotrope and gottrons papules

dermatomyositis

When is there poor prognosis with dermatomyositis

muscle weakness present for > 4 months

insidious onset of proximal muscle weakness, diffuse hair loss, periungal erythema w/ telangiectasia, red scaly scalp/frontal hairline, extremely pruritic, violaceous scaly plaques on the trunk (shawl sign), photosensitivity,

dermatomyositis H&E and dif