Pediatrics Flashcards
1
Q
Venous malformations are 50% sporadic with what mutation?
A
TIE (Endothelial tyrosin kinase receptor) gain of function
2
Q
Maffucci Syndrome mutation?
A
IDH1 and IDH2 (isocitrate dehydrogenase)
3
Q
Maffucci Syndrome first sign in infancy is ?
A
Deep enous malformation on hands and feet
4
Q
How does Blue rubber bleb present?
A
Blue nodules with overlying HYPERHIDROSIS
5
Q
What are patients with Blue rubber bleb at risk for?
A
Small intestine hemorrhage, chronic bleeding
6
Q
Glomulovenous malformation inherited how? What mutation?
A
Inherited AD d/t glomulin (GLMN) gene
7
Q
How do GV malformations present?
A
In infancy, on the lower extremities with multiple asymptomatic purple soft nodules that make up a plaque.
8
Q
GVM vs Glomus Tumor, which is painful?
A
Glomus tumor is painful and sensitive to cold
9
Q
Macrocystic lymphatic malformations are associated with what syndromes?
A
Turner Syndrome, Down Syndrome, Noonan Syndrome
10
Q
If a lymphatic malformaiton suddenly increases in size, what do you worry about?
A
infection or intralesion hemorrhage
11
Q
Congenital lymphedema inherited how? What mutaiton?
A
Inherited AD due to loss-of-function mutation in FLT4 gene (incodes VEGFR3)
12
Q
What is congenital lymphedema syndrome associated with?
A
Scrotal hydrocele, upslanting toenails, deep creases in the toes, papillomas
13
Q
When is the onset of lymphedema-distichiasis syndrome?
A
peripubertal onset (10-30yo). Distichiasis is extra eyelashes
14
Q
Where are AVMs most commonly located?
A
cephalic
15
Q
Parkes Weber Syndrome clinical picture?
A
Capillary, Venous and lymphatic malformatoin with multiple AVMs on the lower extremities with soft tissue and bone hypertrophy
16
Q
How do you differntiate Parkes Weber form Klippel Trenaunay?
A
With Duplex ultrasound and MRI/MRA
17
Q
Lytic bone lesions can be seen in Parkes Weber. T or F
A
TRUE
18
Q
Cobb Syndrome clnical picture?
A
Spinal AVM or hemangioma AND cutaneous capillary malformation of the same metamere of the torso
19
Q
Cobb syndrome complication?
A
Neurologic impairement d/t impingement on spinal cord
20
Q
CMTC usually presents where on the body?
A
unilateral lower extremities
21
Q
Neurologic and eye abnormalities in some CMTC patients?
A
glaucoma, seizures, mental retardation
22
Q
Fabry disease inherited?
A
XLR
23
Q
Fabry angiokeratomas present when?
A
At puberty on the buttocks, eyes, and mouth. Associated with hypohidrosis
24
Q
Fabry disease presents in childhood as? In puberty?
A
Fabry crisis, whole body pain, acral pain.
25
Fabry adult can have what problems?
Eye (cataracts, corneal opacities), Heart (MI), Renal (renail failure with maltese lipid globules)
26
Fabry diseaes treatment?
agalsidase
27
Fabry patients that receive treatment are still at risk for?
MI and stroke
28
What are 3 disease that can have angioma coroporis diffusum?
Fabry, fucosidosis, GM1 gangliosidosis
29
Fucosidosis angiokeratomas present when?
At 5 yo
30
Pachyonychia congenita presents as (3)
onychodystrophy, painful plantar keratoderma with, plantar pain
31
Pachyonychia congenital type 1 has what findings?
Benign oral leukoplakia (unlike dyskerstosis congenita), follicular hyperkeratosis
32
Pachyonychia congenital type 2 has what findings?
steatocystoma, natal teeth
33
Angioma serpiginosum most common in M or F. Where on the body?
IN female (90% of the time) and on lower extremities
34
Where does generalized essential telangiectasias begin?
on the legs and spreds prximally
35
How does Hereditary Hemorrhagic telangiectasias present?
As nighttime epistaxis and anemia from GI bleeding
36
What malformation can be associated with Hereditary Hemorrhagic Telangiectatias?
AVMs of the lungs and liver
37
How Hereditary Hemorrhagic Telangiectatias inherited? Mutation?
AD, endoglin (HHT 1) and ALK1 (HHT2)
38
Female carrier of Ataxia Telangiectaisa have what risk?
Increased risk of breast cancer
39
Ataxia Telangiectaisa have increased risk of what cancers?
Lymphoma, Leukemia
40
Ataxia Telangiectasia immunoglobulins?
Increased IgM, Decreased everything else IgA, IgG, IgM
41
Ataxia Telangiectasia cuase of death?
Bronchiectasis causing respiratory failure
42
Ataxia Telangiectasia cutansou findings?
Noninfectious granulomas, pinpoint tlgs
43
Hypohidrotic ectodermal dysplasia clinical triad
Hypohidrosis, hypotrichosis, abnormal dentition
44
Hypohidrotic ectodermal dysplasia with immunodeficiency d/t mutation in what?
NEMO
45
Hidrotic ectodermal dysplasia clinical triad
onychodystrophy, PPK, hypotrichosis with thin/brittle hair, tufted distal phalanges. Hair skin nails
46
Hidrotic ectodermal dysplasia inheritance, mutation?
Inherited AD, mutation in GJB6 (connexin 30)
47
Ankyloblepharon ectodermal dysplasia-clefting syndrome. Mutation in? Clinical
AD mutation in p63. Associated with scalp w chronic erosive dermatitis and frequent staph infections
48
Ectrodactyly ectodermal dysplasia-cleft lip syndrome. Mutation in? Clinical
AD muation in p63. Associated with conductiv ehearing loss and genitourinary anomalies
49
Rubinstein Taybi Syndrome clinical features?
Imagine a super rich pilot (pilomatricoma) Ruby with a ruby heart necklace (congenital heart defects), ruby fat nails (brachyonychia)
50
Temporal triangular alopecia shows what on microscopy?
decreased terminal hair and increased vellus hairs
51
Atrichia with papules. Mutation in? Clinical picture?
Mutation in hairless gene. Hair is normal at birth, then quickly shed and milia papules
52
What is atrichia with papules associated with?
vitamin D reisstant rickets
53
Monilethrix is associated with what 2 conditions?
Keratosis pilaris and koilonychia
54
Loose anagen syndrome is due to defect in
defective inner rooth sheath keratinization resulting in easily and painlessly plucked hair
55
Hypertrichosis cubiti clinical features?
terminal hair that disappears by puberty. 90% in anagen phase
56
Acrodermatitis Enteropathica inherited?
AR SLC 39A4
57
Hartnup disease d/t mutation in what?
SLC6A19 which encodes a neutral amino acid transporter. Think of Hartman in the sun
58
Hartnup disease pathophys
inadequate absorption of tryptophan from GI tract, which leads to decrased nicotinic acid, and pellagra-like symptoms
59
Hartnup cutaneous eruption?
Presents in childhood as acute photodermatitis (blistering) after sun exposure
60
Hartnup Tx?
oral nicotinamide
61
Phenylketonuria pathophys?
Inability to convert phenylalanine to tryptophan, causing hypopigmentation, dermatitis, photosensitivity
62
Phenylketonuria Tx?
Avoid aspertame, low phenylalanine diet
63
Homocystinuria mutation?
Mutation in cystathionine beta synthetase. Can't convert homocysteine to cystathioine
64
Homocystinuria cutaneous findings?
Livedo reticularis, leg ulcers, malar eyrthema, hypopigmentation of skin and hair
65
Homocystinuria non-cutaneous findings?
Clots in the heart, brain, veins. Ectopia lentis (downward displacement of lens), marfanoid habitus, mitral valve prolapse
66
Lesch Nyhan mutation? What does it cause
XLR disorder in hypoxanthine guanine phosphoribosyl transferase leading to increased uric acid
67
Lesch Nyhan diaper finding
Orange uric acid crystals in the diaper or hematuria
68
Lesch Nyhan pts die from?
Renal failure. Uric acid nephropahty
69
Prolidase deficiency missing enzyme prolidase which does what?
catabolizes proteins
70
Prolidase Deficiency cutaneous findings:
Severe ulcerations of the lower extremities, hypertelorism
71
Alagille syndrome mutation in?
AD, JAG1 (encodes ligand for Notch receptor)
72
Alagille syndrome findings?
Triangle facies, Tuberous xanthomas, congenital heart disease, hypercholesterol (>200), hypertriglyceridemia (>1000)
73
Alagille syndrome tx?
Liver failure by 3 months. Liver transplant d/t congenital intrahepatic biliary hypoplasia
74
Hunter Syndrome
Hyerptrichosis, coase facies, pebbled ivory plaque on back
75
Cutis Laxa can be transmitted AD, AR, and XLR, what are the mutations?
AD mutation in elastin gene or fibulin 5 gene. AR mutation in fibulin 5. XLR mutation in ATP7A
76
Cutis Laxa clnical picture?
Hound-dog facies, loose, saggin skin, deep voice.
77
Cutis laxa histology?
sparse, fragmented elatic fibers
78
AD cutis laxa
mostly skin findings, but may have cardiac valve abnormalities
79
AR cutis laxa
Hypoplastic lungs and emphysema, GI diverticulosis
80
XLR cutis laxa
wedge shaped occipital calcifications
81
Acquired cutis laxa d/t which drugs or systemic disease?
Penicillamine (wilsons disease), Isoniazid, or SLE, RA, sarcoidosis
82
PXE inherited how? Mutation causes what?
Inherited AR. Mutation causes mineralization of elastic tissue of the yes, skin, arteries
83
PXE ocular, cardiovascular, GI, obstetric complicatoin?
Angiod streaks, MI, Stroke, MV prolapse, Gastric artery hemorrhage, First trimester miscarriage
84
PXE morbidity and mortality due to
hemorrhage or athlersclrotic disease
85
Name all the diseases that can result in angiod streaks?
Sick Thelma Eating Lead Chicken Bones (sickle cell, thalessemia, EDS, lead poisioning, PXE, bone pagets)
86
Classic EDS mucocutaneous findings
fishmouth scars, cigarette scars, molluscoid pseudotumors 9overyling extensor joints and pressure points), Gorlin's
87
Type 3 EDS is what type?
Hypermobile with dislocations and subluxation. Deficiency in tenascin X.
88
Type 4 EDS is what type?
vascular EDA. Rupture of bowel, uterus or arteries. Most life-treatening form
89
Type 4 EDS . What rupture is most common?
Intestinal rupture (sigmoid colon)
90
Type 4 EDS. What mutaiton?
Collagen type 3
91
Buschke Ollendorf mutation causes what
Increased TGFbeta signaling
92
Buschke Waldorf clinical symptoms include?
Think of a painter jumping on trampoline (elastomas), while drawing a jackpollack painting (osteopoikiosis and Melorheostosis candle wax)
93
Buschke ollendorf tridad?
dermatofibrosis lenticularis disseminata, osteopoidkilosis, melorheostosis
94
First clinical sign of lipoid proteinosis?
Hoarse or weak cry due to vocal cord infiltration of hyaline material in dermis. May cause early death if causing respiratory difficulty/infection
95
Describe the first and second stage of lipoid proteinosis
First state is vesicles and ice pick scars in areas of trauma. 2nd stage is waxy nodules on the body and along eyelid
96
describe the tongue in patients with lipoid proteinosis
thickened and woody with inability to protrude d/t a shortened frenulum
97
describe the neurologic symptoms of pts with lipoid proteinosis
bean shpaed clacifaction in the temporal lobes of hippocampus causing seizures
98
Lipoid proteinosis deposits of what?
Collagen type 2 and type 4 and laminin
99
Focal dermal hypoplasis (Goltz) inherited how? Mutation in
XLD because it is lethal in males. Mutation in PORCN gene which regulates Wnt signaling
100
Goltz memonic?
FOCAL for female, XLD, osteopathia striata, colobomas, aplasia ectoderm (absent teeth), lobster
101
Goltz picture memonic
Lobster fighting a porcupine over rasberries (papillomas on lips and anogenital region)
102
Restrictive dermopathy. What are the prenatal manifestations?
Present with fetal akinesia, polyhydramnios, premature rupture of membranes
103
Sequale of Restrictive dermopathy?
Death secondary to respiratory insufficiency shortly after birth
104
marfan mutation also causes what other syndrome?
Stiff Skin syndrome
105
What is stiff skin syndrome?
progressive development of stony-hard skin on shorts and shoulder area causing joint contractures, and facial sclerosis
106
How do you prevent secondary amyloidosis in patients with FMF?
Give colchicine
107
Treatments for patient with autoinflammatory disorders?
Anakinra and canakinumab
108
Muckle Well key clnical findings
Fever for 2 days, lancing extremity pain, hearing loss. Think of a kid who got stuck in a well for 2 days, can't hear anything and hurt his leg
109
Muckle Wells gene mutatoin
cryopyrin. Kid is cyring in the well that he fell into.
110
Muckle Wells patients have a risk of what?
systemic secondary amyloidosis
111
Neurofibromatosis is a mutation in what?
Mutatoin in neurofibromin, a tumor suppressor gene, that usually negatively regulates Ras
112
Neurofibromatosis finding in infancy, prepubertal, adolescence, adulthood?
1. Cafeaulait, sphenoid wing dysplasia, plexiform NFs 2. optic giomas, Freckling 3. lisch, NFs 4. MPNST
113
What other tumors can ppl with NF1 get?
pheochromocytoma, Wilms tumor, chronic myelogenous leukemia
114
How do neurofibromas look in NF2?
NFs are subcutaneous w/ overlying pigment/hair, usually less than 2 CALMs.
115
Mutation in Tuberous Sclerosis causes what?
Harmartin and tuberin which are tumor suppressor genes that inhibit signal transduction of downstream effectors of mTOR
116
What portends a worse prognosis in TS patients?
Infantile spasms, large number of coritcla tubers, early age of onset of seizures (mortality)
117
Top 2 causes of death in TS?
1. complications related to seizures 2. renal disease
118
What are the brain, heart, lung and renal tumors in TS?
Subependymal giant cell astrocytomas, cardiac rhabdomyomas, pulmonary lymphoangioleiomyomatosis, renal angiomyolipomas and RCC
119
Tuberous sclerosis finding in infancy, prepubertal, adolescence, adulthood?
1. Hypomelanotic macules 2. Angiofibromas, Shagreen patch 3. Ungual fibromas 4. Intraoral fibromas
120
What tumors in tuberous sclerosis are there in infancy?
brain and heart (subependymal nodules, cardiac rhabomyomas)
121
Incontinential pigmenti mutation? What does it cause?
Mutation in NEMO which prevents activation of NFkB
122
Females with missense mutatoin in NEMO (mild IP) can bear childresn with what?
Hypohidrotic ectodermal dysplasia with immunodeficiency
123
Severely affected IP patients can develop what?
Seizures, developmental delay, and blindness (d/t retinal vascular anomalies)
124
What other cutaneous findings do IP patients have?
IP and SAT like AP and SAT. Subungal tumors, Anodontia, Teeth (conical or pegged)
125
Progeria and Restrictive Dermopathy share a mutation in what? What does that protein do?
Lamin A. Lamin A contributes to the structure / function of the nuclear envelope
126
Most common cause of death in Progeria?
Cadiovascular disease
127
Werner syndrome mutation in
RECQL2, encodes a DNA helicase, which inhibits DNA synthesis and shunts replication to telomere-driven replicative senescence
128
Werner syndrome has incrased risk of what malignancy?
fibrosarcoma, osteogenic sarcoma, breast, ovarian, thyroid, skin cancers
129
Werner syndrome: when do they die
Typically in th emid 50's from malignancy and cerebrovascular cardiovascular events
130
Xeroderm Pigmentosum due to mutation in proteins that
are important in the nucleotide excision repaire pathway
131
Most common subtypes of XP are
XPA and XPC
132
Describe XPA
increased risk of early neurodevelopment
133
Mutation in XPV
mutation in DNA polymerase
134
XPB and XPD are special because
a/w cockayne (retinal degen, basal ganglia) and trichothiodystrophy
135
Bloom syndrome mutation causes
RECQL3, increased rates of sister chromatid exchange and chromosomal instability
136
Cutaneous manifestations of BLOOM
photosensitivity, telangiectatice erythema, CALMS
137
Other features of Bloom syndrome
Short, hypogonadism, decreased IgA and IgM. Late bloomers don't have balls
138
Werner, XP, Bloom, Rothmund Thomson, and Cockayne are inherited?
AR. Note progeria is inherited AD
139
Rothmund Thomson syndrome clinical findings
Blisters on the cheeks, then poikiloderma. Acral keratosis that cause SCC. Cataracts. Hypogonadism
140
Rothmund Thomson mnmonic
Wealthy hypogonad person retired on roth. Sits out on the beach (get blisters, poikio), cant see (cataracts) and puts out keratotic 4 fingers for his pina colada
141
Rothmund Thomson die of
Malignancy (osteosarcoma 14yo, then NMSC at 30yo)
142
Cockayne Syndrome mutation in, which causes
mutation in transcription coupled Nucleotide excision repair. Inability to resume RNA synthesis after UVR exposure
143
Do cockayne patients have increased risk of skin cancer like XP?
No increased risk of skin cancer. Also lacks pigmentary changes.
144
What do cockayne pts die from?
Most die by 4th decade from progressive neurologic disease
145
Cockayne syndrome non-cutaneous manifestations?
Basal ganglia clacification, demyelination of CNS, Cachetic dwarf, Salf and pepper retinopathy
146
Group of diseases with britle hair and nails. With decresed cysteine-rich proteins
Trichothiodystrophy
147
Trichothiodystrophy Mnemonic?
PIBIDS
148
What does PIBIDS stand for?
Photosensitivity (no increased skin cancer risk), Ichthyosis, Brittle Hair, Intellectual impairment, Decreased fertility, Short stature
149
What two types of hair do you see in trichothiodystrophy?
Trichoschisis and trichorrhexis nodosa (imagine breaking a broom) PIBIDS
150
EBV is associated with what light eruption?
Hydroa Vacciniforme
151
Do lesions scar in Hydroa vacciniforme?
Yes, when lesions resolve, they leave punched out varioliform scars
152
Children with hydroa lesion and fever and lymphadenopahty and hepatospelnomegaly should be evaluated for?
EBV associated lymphoproliferatie disorder
153
Natural history of hydroa vacciniforme vs Actinic prurigo?
Hydroa vacciniforme resolves at puberty. Actinic prurigo persists
154
Flare at what times of year: hydroa vacciniforme vs Actinic prurigo?
Hydroa flares in summer only. Actinic prurigo flares in spring, but doesn't completely go away even in winter
155
What are other cutaneous findings in ppl with actinic prurigo?
Actinic chelitiis, Actinic conjunctivitis (epiphora, photophobia)
156
Tx for actinic prurigo?
Thalidomide
157
Juvenile spring eruption occurs in boys vs girls ? and flares on the ?
Flares on the helical ears
158
Avoid topical steroid usein in which diaper dermatitis?
granuloma gluteale infantum.
159
Juvenile plantar dermatosis is a ?
Frictional irritant dermatitis
160
What syndrome is allelic with LEOPARD syndrome and both have pulmonic stenosis?
Noonan syndrome
161
which syndrome has ulerythema ophryogenes?
Noonan syndrome
162
Which syndrome has leg ulcers?
Klinefelter
163
What do mast cells stain?
Toluidine blue, Giemsa, Leder, Tryptase, CD117 (kit)
164
For mast cell disorders, if tryptase levels are normal, what else can you test for?
Urinary histamine and histamine metabolites (1,4 methylimidazole acetic acid) MIAA and NMIAA
165
Primary immunodeficiency with erythroderma?
Omenn syndrome, SCID
166
If transplacental materal T lymphocytes occur in neonates with SCID, what happens?
May leave to clinical signs of graft vs host disease
167
Wiskott-Aldrich mnmonic
TIE (thrombocytopenia, infections with encapsulated bacteria, Eczema. Decrease IgM increased IgD, E, A
168
Female carriers of xlinked CGD may have a higher risk of
lupus
169
If you look at the Bone Marrow of WHIM patients, what do you see?
Myelokathexis. Peripheral neutropenia with retention of neutrophils in the bone marrow.
170
Icthyosis vulgaris histology
diminished/absent granular layer w/ overlying orthohyperkeratosis
171
Steroid C. sulfatase deficiency associated clinical features?
Corneal comma-shaped opacities, cryptoorcidism, increased risk of testicular cancer
172
Lamellar ichthyosis has a mutation in what two genes. What do ou see on EM?
TGM1( see thin cornified envelope) and ABCA12 (absense of lamellar body content)
173
Lamellar ichthyosis vs Steroid sulfatase. Which one spares the flexures?
Steroid sulfatase deficiency spares the flexures
174
Number 1 cause of collodion membrane at birth?
Congenital ichthyosiform erythroderma
175
Tx for harlequin ichthyosis?
early initiation of systemic retinoids
176
Epidermolytic Ichythosis mutation in
Keratin 1 and 10
177
What not to give patients with epidermolytic ichthyosis?
Retinoids can exacerbate skin fragility
178
Netherton syndrome patients have what type of hair findings
Trichorrhexis invaginata, trichorrhexis nodosa, pili torti
179
Netherton syndrome patients have what immunoglobulin finding?
Increased IgE
180
Sjogren-Larsson Syndrome have what associated clinical features?
Progressive spastic tetraplegia, photophobia, perifoveal glistening white dots
181
Peripheral blood smear with lipid vacuoles in granulocytes, eosinophils, and monocytes
Neutral lipid storage disease w/ ichthyosis
182
What associated clinical features do ppl with neutral lipid storage disease w ichthyosis have?
Hepatomegaly and developmental delay
183
Increased plasma phytanic acid is seen in
Refsum disease
184
What other clinical features do ppl with Refsum disease have?
Periperal neuropathy, Cerebellar ataxia, salt and pepper atypical retinitis pigmentosa
185
what diet do patients with Refsum need ot have?
low green vegetables, dairy products and ruminant fats
186
KID syndrome kids are susceptible to what?
Increased susceptibility to oral and cutanoeus SCC
187
CHILD and Conradi Hunnerman Happle Syndrome are inherited how?
Inherited XLD and both with stippled epiphyses and chrondrodysplasia punctata
188
Cutaneous features of CHILD?
Unilateral pink yellow adherent scale that changes into verrucous hyperkeratosis
189
Non cutnaeous features of CHILD?
Ipsilateral skeletal hemidysplasia, ipsilateral organ hypoplasia, stippled epiphyses
190
Cutaneous features of Conradi Hunermann?
Generalized erythema with feathery blaschkoid adherent scale that is replaced with follicular atrophoderma on the forearms and dorsal hands
191
non cutaneous features of Conradi Hunermann
Stippled epiphyses on XRAY only during infancy
192
Naxos syndrome findings
Diffuse PPK with wooly hair and Right ventricle cardiomyopathy
193
Voner syndrome is what type of PPK? Mutation in ?
Epidermolytic PPK. Mutation in 1 and 9
194
Mutilating Vohwinkel has mutations in what? What does each mutaion cause?
Connexin 26 causes sensorineurla deafness. Loricrin causes ichthyosis
195
Striate PPK d/t
desmoglein 1
196
Richner T. Handhart syndrome d/t mutation in
Tyrosine amino transferase TAT
197
Richner T. Handhart syndrome clincal features?
Focal pinful PPK on weight bearing areas, dendritic keratitis, corneal ulcers and blindness
198
Thick yellow PPK on weight beearing areas that start in the teens, what PPK do you think of?
Howel Evans syndrome with risk of esophageal cancer in 20's to 40's up
199
Tangier disease presentation? pathophys?
Presents with tonsilar xanthomas. Unable to expel cholesterol to circulating HDL. HDL is low.
200
Beta-sitosterolemia presentation?
tendinous and tuberous xanthomas in childhood. Normal cholesterol and triglycerides, but very high sitosterol
