Genodermatoses/systemic disease Flashcards
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
Nail manifestations of darier-darier
longitudinal broad red/white stripes
v shaped nick at free edge of nail
Palmar pitting and cobblestone pattern of small papules on mucous membranes with gummy overgrowth
darier-darier
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’
what are hailey hailey paitents at risk for?
eczema herpeticum
bacterial infection
what triggers darier darier
sun exposure, friction/heat, sweat
scaly erythematous red papules pronounced in intertriginous and scalp
langerhans histiocytosis
treatment of Langerhans histiocystosis
hydroxyurea
methotrexate
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)
If you diagnose keratoderma, what should you do
genetic workup w/ biopsy
treatment goals of palmoplantar keratoderma
Soften the thicken skin.
Tuberous Sclerosis Complex
inherited autosomal dominant diseases
presents 3-10yr old
small pink or red spots in butterfly distribution
NF1
Lisch nodules
6 or more cafe au lait
multiple Neurofibroma
NF1
Shagreen patch is the hallmark-flesh colored or orange peel connective tissue nevi, most common in lower back
Tuberous sclerosis
Nail findings of TSC
smooth firth flesh colored emerging from nail fold, longitudinal groove in the nail, splinter hemorrhage
Ash leaf marks are the hall mark sign of ? (white ash leaf shaped marks)
TSC
Ichthyosis hallmark sign
Fish scale surprise, dry thickened scaling skin
present at birth
mutation in filaggrin gene
increased association with atopic triad/keratosis pilaris
hyperlinearity of palms/soles
Ichythosis vulgaris
X linked icthyosis puts patient at high risk of
higher risk of cryptorchism and testicular
Painful hyperkeratosis involving the hair, nails or mucosal surfaces, palmoplantar hyperhidrosis
PPK
soften skin with keratolytics, exfoliative- urea 20-40%
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
