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50 Cards in this Set

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Rare form of panniculitis in infants, usu with other illnesses, usu fatal
Sclerema Neonatorum
What are the assoc found with subcutaneous fat necrosis of the newborn?
maternal cocaine use
hypothermia
cardiac surgery
What electrolyte abnmlity is found with subcutaneous fat necrosis of the newborn?
hypercalcemia -- check up to one month after all lesions have cleared
What bony abnormalities are associated with aplaxia cutis congenita?
skeletal abnormalities, brain malformations, cleft lip, syndactyly
What syndromes are associated with Aplasia Cutis?
Bart's syndrome - epidermolysis bullosa dystrophica w/ ACC

Setleis' syndrome - bitemporal aplasia cutis, leonine faces, absent eyelashes
bitemporal aplasia cutis congenita, leonine facies, absent eyelashes
Setleis' syndrome
epidermolysis bullosa dystrophica w/ ACC
Bart's syndrome
Adams-Oliver syndrome
CMTC w/ ACC and limb defects
(cutis marmorata telangiectactica congenita w/ aplasia cutis congenita and limb defects)
Eponym for Acute Hemorrhagic Edema of Infancy
Finkelstein Disease
Name some cutaneous sign of spinal dysraphism
hypertrichosis
dimpling
skin tags
tails/pseudotails
lipomas
aplasia cutis
hemangiomas
dermoid cysts/sinuses
telangectasia, capillary malformations, and nevi
Name the disorders assoc with milia
Bazex syndrome
Rombo syndrome
Epidermolysis bullosa
Down syndrome
Oro-facial-digital syndrome
Epstein Pearls
Bohn nodules
What are Epstein Pearls?
Milia on mucosa
What are Bohn nodules?
milia on palate
What is Bazex syndrome?
milia
follicular atrophoderma
multiple BCC
Rombo syndrome
milia, vermicular atrophoderma, BCC, trichoepitheliomas
Gene Defect in Niemann-Pick Disease
sphingomyelin phosphodiesterase-1
Clinical findings in Niemann-Pick Disease
xanthomas, progressive psychomotor deterioration, hepatosplenomegaly, blindness, cherry red spots and deafness
Gene defect in Multiple Carboxylase Deficiency/Biotin Deficiency
Neonatal form: AR holocarboxylase synthetase (vomiting)

Juvenile Form: AR biotinidase (optic atrophy and hearing loss)

Both have: seizures, hypotonia, ataxia, lactic acidosis/ketosis, hyperammonemia, alopecia
Name the types of Phakomatosis Pigmentovascularis
Four subtypes:
I - CM + epidermal nevus
II - CM + dermal melanocytosis +/- nevus anemicus
III - CM + nevus spilus +/- nevus anemicus
IV - CM + dermal melanocytosis +/- nevus spilus +/- nevus anemicus
Langerhans cell histiocytosis aka?
Letterer-Siwe Disease
Enzyme defect in AR zinc deficiency
intestinal zinc-specific transporter SLC39A4
In zinc deficiency, what is also low?
alkaline phosphatase -- zinc dependent enzyme
Gene defect in nail patella syndrome?
LMX1B
Goldenhar syndrome
can see:
accessory tragus, epibulbar dermoid and vetebral defects (defects assoc with first branchial arch)
What malignancy is assoc with juvenile xanthogranulomas?
Chronic Myelogenous Leukemia
(also assoc with NF Type I and aquagenic pruritis)
Name gene defect in Carney complex
AD
Tumor suppressor gene: PRKAR1A

Assoc with psommamatous melanotic schwannomas; multiple endocrine abnormalities, lentigines, myxomas, blue nevi
Gene defect in Xlinked Ichthyosis?
XLR
defect in Steroid sulfatase gene (arylsulfatase C), fetal DHEAS
Large segmental V1 hemangioma is at risk for what defect?
PHACES syndrome
Statue of liberty sign
unilateral laterothoracic exanthem (asymmetric periflextural exanthem) -- presumed viral cause); spontaneous resolution

seen in small children (22months)
Eponym for Papular acrodermatitis of childhood
Gianotti-Crosti syndrome
-- possible assoc with Hep B or EBV
-- avoid steroids
CHILD syndrome
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Defect in CHILD syndrome
NSDHL gene
encodes: 3B-hydroxysteroid dehydrogenase
Defect in Albright's hereditary osteodystrophy (pseudohypoparathyroidism)
GNAS1 mutation
Clinical findings in Albright's hereditary osteodystrophy
Osteoma cutis
short stature
obesity
round facies
subcutaneous ossifications
brachydactylyl
skeletal anomalies

Can also have: MR

Assoc with pseudohypoparathyroidism, hypocalcemia, elevated PTH levels (PHP 1a)
Gene defect in Wiskott-Aldrich syndrome
XLR
WAS gene
-- ustable sialoglycoprotein CD43 on surface of lymphocytes
What is it:
atopic dermatitis
increased risk for secondary infection
thrombocytopenia
recurrent bacterial infections
increased risk of lymporeticular malignancy(20%)
Wiskott-Aldrich syndrome
Decreased IgM/IgG
Increased IgA, IgE, IgD
Total serum Ig normal
Wiskott-Aldrich syndrome
Gene defect in Peutz-Jegher syndrome
AD
STK11/LKB1
- multiple labial lentigos seen
- GI adenocarcinomas
Assoc with benign Leukoplakia
Pachyonychia congenita type I
Assoc with natal teeth and steatocystoma
Pachyonychia congenita type II
Gene defect in Werner Syndrome
Werner Syndrome (Adult Progeria)
AR
Defect in RECQL2 (encodes DNA Helicase)

MN:
You're 2 old! (RECQL2)
Gene defect in Rothmund-Thomson Syndrome
AR
RECQL4 gene defect (encodes DNA helicase)

MN: hypoplastic or absent thumbs has only 4 fingers, RECQL-4
What is it:
infant with yellowish-brown, crusted papules with petechiae in a seborrheic distribution
Langerhans Cell Histiocytosis (aka Letterer-Siwe Disease)
Erosive papules in diaper region -- multifactorial in etiology (yeast, irritant dermatitis, moisture)
Jacquet's Erosive Dermatitis
When do junctional nevi appear?
usually rare at birth, develop after age 2;
rare degeneration into melanoma
How are congenital nevi classified?
By their size in infancy:
small <1.5cm
medium 1.5 - 20cm
large > 20cm (comprising >5% of BSA in preadolescents, or >20cm in adults)
Risk of malignancy in small congenital nevi?
very small, therefore prophylactic removal is unnecessary, close observation will suffice.
RARE b/f puberty, therefore may wait until just b/f to excise
Risk of malignancy in medium congenital nevi?
still debated.
may follow closely, may excise, another option is to punch bx areas to determine if deep dermal depth is present wch increases risk
what is another name for a large nevus on the trunk area?
giant congential nevus aka bathing trunk nevus
Risk of malignancy in large congenital nevus?
Incidence of malanoma is 1.8% to 7.1%
1/2 of cases by 3-5yo
Therefore excision is recommended (currettage an alternative if in the first 2 weeks of life)