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41 Cards in this Set

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Associations with Subcutaneous fat of newborn
maternal cocaine, hypothermia, cardiac surgery
Subcutaneous fat of newborn labs to follow
calcium for one month (hypercalcemia
Bart's syndrome
EB dystrophica with ACC
Setleis' syndrome
bitemporal aplasia, leonine facies, absent eyelashes
CMTC associations
limb atrophy or hypertrophy, arterial stenosis,cardiac defects,CNS in rare disease
Adams Oliver:
CMTC with aplasia cutis congenita
Nevus sebaceus neoplasms:
syringocystadenoma papilliferum > trichoblastoma. BCC < 1%
Finkelstein's Disease
Acute hemorrhagic edema of infancy
Finkelstein' findings:
LCV, age around 6 mo, hypersens rxn to infxn.; large red/purpuric plaques, ears, cheeks extremities. Fever and tender edema, self limited 4-20 d; no tx
Signs of spinal dysraphism: (9)
hypertrichosis, dimplng, skin tags, tails/pseudotails, lipomas, aplasia cutis, hemangiomas, dermoid cysts, telangiectasias
Acne neonatorum: implicated species:
malassezia
E Tox: onset and duration
24h to 72 h lasts 2 weeks, full term infants
Transient neonatal pustular melanosis: describe it.
small pustules, no erythema, collarette when ruptured.
Inherited form of Zn Deficiency:
SLC39A4 mutation, zinc transporter
Jacquet's Erosive dermatitisL what is it?
Severe ersoive papule, pain on urination, multtifactorial: yeast irrtatn and moisture
Granuloma gluteale infantum: look and cause
red purpule, granulomatous noduels, 2/2 irritation, maceration and Candida
Biotin def/multiple carxoy def.: enzymes and findings
neonatal: AR holocaboxylase sytnetase; juvenile: biotinidase
seizures, vomiting, hypotonia, ataxia 2/2 lactic acidosis.
Kawasaki's: presentation?
2/3 with confluent, tender erythema in perineum that desquamates
Toxo: skin and other findings:
nonspecfivic, petechiae; neurologic sequelae, chorioretinitits, intracranial calcification
rubella: skin and findings
extramedulalary hematopoeissis; iugr, mcirocephaly, chorioretinitis, hsm
CMV: skin and findings
blueberry muffin and petechiae, iugr, microcephaly, chorioretinints, thrombocytopenia, hsm, pneumonitits
CMV: greatest risk of infection?
first trimester, reactivation from mother (latent)
varicella: greatest risk?
first 20 weeks
Measles..virus group and genome?
paramyxo, ssRNA
scarlet fever: rash and "skin lines"
sandpaper, Pastia's lines 9(accentuation in skin folds)
Rubella: virus family and genome
togavirus, ssRNA
Greatest risk of fetal demis in erythema infectiosum
> 2nd hydrops fetalis but possible in all 3
Kawasaki's criteria:
fever>5d; palmoplantar erythema> desquamation; conjunctivitis; strawberry tongue/red lips; cervical adenopathy
kawasaki's: TX
ASA and IvIG, cardiac aneurysm in 19%
HSP findings, cause:
palapable purpura, papules and macuels on extesnor surfaces and buttocks; joint pain, abd pain, nephritis with hematuria; IgA vasculitis
LEOPARD syndrome; gene?
PTPN11, allelic to noonan
Peutz Jeghers: gene and inheritance
STK11/LKB1 AD
% of pop with congenital nevi?
1%
define small, med, large congenital nevi:
< 1.5 cm, 1.5 to 20 cm, > 20 cm or 10% BSA
associations with nevus spilus?
phakomatosis pigmentovascularis, and phakomatosis pigmentokeratotica
nevus sebaceus: occasional mutations in this gene
patched
pathognomonic path of infantile digital fibroma
small round red perinuclear intracytoplasmic inclusion bodies in proliferating fibroblasts
infantile myofibromatosis: mortality due to?
2/2 lung, gi and cns involvement, FTT and infection
dermoid cysts: location, and tx.
embryonic fusion planes; around eyes and nasal root. usually lined by strat squam epithelium with appendageal elements, hair and teeth. MRI to rule out intracranial extension
JXG: location?
extracutaenous ocular, glaucoma, uveitits, hyphema, heterochromia iridis
Langerhan's histio: types, complications
letterer-siwe, eosinophilic granuloma, hand=schuller-christian; bone most commonly involved, pulmonary, DI, LN, bone marrow and liver