Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Dermatology > Pediatrics > Flashcards

Pediatrics Flashcards

You may prefer our related Brainscape-certified flashcards:
Dermatology Board Prep flashcards
1
Q

Venous malformations are 50% sporadic with what mutation?

A

TIE (Endothelial tyrosin kinase receptor) gain of function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Maffucci Syndrome mutation?

A

IDH1 and IDH2 (isocitrate dehydrogenase)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Maffucci Syndrome first sign in infancy is ?

A

Deep enous malformation on hands and feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How does Blue rubber bleb present?

A

Blue nodules with overlying HYPERHIDROSIS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are patients with Blue rubber bleb at risk for?

A

Small intestine hemorrhage, chronic bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Glomulovenous malformation inherited how? What mutation?

A

Inherited AD d/t glomulin (GLMN) gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

GVM vs Glomus Tumor, which is painful?

A

Glomus tumor is painful and sensitive to cold

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Macrocystic lymphatic malformations are associated with what syndromes?

A

Turner Syndrome, Down Syndrome, Noonan Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

If a lymphatic malformaiton suddenly increases in size, what do you worry about?

A

infection or intralesion hemorrhage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Congenital lymphedema inherited how? What mutaiton?

A

Inherited AD due to loss-of-function mutation in FLT4 gene (incodes VEGFR3)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is congenital lymphedema syndrome associated with?

A

Scrotal hydrocele, upslanting toenails, deep creases in the toes, papillomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

When is the onset of lymphedema-distichiasis syndrome?

A

peripubertal onset (10-30yo). Distichiasis is extra eyelashes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Where are AVMs most commonly located?

A

cephalic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How do you differntiate Parkes Weber form Klippel Trenaunay?

A

With Duplex ultrasound and MRI/MRA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Lytic bone lesions can be seen in Parkes Weber. T or F

A

TRUE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Cobb Syndrome clnical picture?

A

Spinal AVM or hemangioma AND cutaneous capillary malformation of the same metamere of the torso

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Cobb syndrome complication?

A

Neurologic impairement d/t impingement on spinal cord

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

CMTC usually presents where on the body?

A

unilateral lower extremities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Neurologic and eye abnormalities in some CMTC patients?

A

glaucoma, seizures, mental retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Fabry disease inherited?

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Fabry angiokeratomas present when?

A

At puberty on the buttocks, eyes, and mouth. Associated with hypohidrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Fabry disease presents in childhood as? In puberty?

A

Fabry crisis, whole body pain, acral pain.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Fabry adult can have what problems?

A

Eye (cataracts, corneal opacities), Heart (MI), Renal (renail failure with maltese lipid globules)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Fabry diseaes treatment?

A

agalsidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Fabry patients that receive treatment are still at risk for?

A

MI and stroke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are 3 disease that can have angioma coroporis diffusum?

A

Fabry, fucosidosis, GM1 gangliosidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Fucosidosis angiokeratomas present when?

A

At 5 yo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Pachyonychia congenita presents as (3)

A

onychodystrophy, painful plantar keratoderma with, plantar pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Pachyonychia congenital type 1 has what findings?

A

Benign oral leukoplakia (unlike dyskerstosis congenita), follicular hyperkeratosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Pachyonychia congenital type 2 has what findings?

A

steatocystoma, natal teeth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Angioma serpiginosum most common in M or F. Where on the body?

A

IN female (90% of the time) and on lower extremities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Where does generalized essential telangiectasias begin?

A

on the legs and spreds prximally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

How does Hereditary Hemorrhagic telangiectasias present?

A

As nighttime epistaxis and anemia from GI bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What malformation can be associated with Hereditary Hemorrhagic Telangiectatias?

A

AVMs of the lungs and liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

How Hereditary Hemorrhagic Telangiectatias inherited? Mutation?

A

AD, endoglin (HHT 1) and ALK1 (HHT2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Female carrier of Ataxia Telangiectaisa have what risk?

A

Increased risk of breast cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Ataxia Telangiectaisa have increased risk of what cancers?

A

Lymphoma, Leukemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Ataxia Telangiectasia immunoglobulins?

A

Increased IgM, Decreased everything else IgA, IgG, IgM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Ataxia Telangiectasia cuase of death?

A

Bronchiectasis causing respiratory failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Ataxia Telangiectasia cutansou findings?

A

Noninfectious granulomas, pinpoint tlgs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Hypohidrotic ectodermal dysplasia clinical triad

A

Hypohidrosis, hypotrichosis, abnormal dentition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Hypohidrotic ectodermal dysplasia with immunodeficiency d/t mutation in what?

A

NEMO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Hidrotic ectodermal dysplasia clinical triad

A

onychodystrophy, PPK, hypotrichosis with thin/brittle hair, tufted distal phalanges. Hair skin nails

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Hidrotic ectodermal dysplasia inheritance, mutation?

A

Inherited AD, mutation in GJB6 (connexin 30)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Ankyloblepharon ectodermal dysplasia-clefting syndrome. Mutation in? Clinical

A

AD mutation in p63. Associated with scalp w chronic erosive dermatitis and frequent staph infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Ectrodactyly ectodermal dysplasia-cleft lip syndrome. Mutation in? Clinical

A

AD muation in p63. Associated with conductiv ehearing loss and genitourinary anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Rubinstein Taybi Syndrome clinical features?

A

Imagine a super rich pilot (pilomatricoma) Ruby with a ruby heart necklace (congenital heart defects), ruby fat nails (brachyonychia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Temporal triangular alopecia shows what on microscopy?

A

decreased terminal hair and increased vellus hairs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Atrichia with papules. Mutation in? Clinical picture?

A

Mutation in hairless gene. Hair is normal at birth, then quickly shed and milia papules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is atrichia with papules associated with?

A

vitamin D reisstant rickets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Monilethrix is associated with what 2 conditions?

A

Keratosis pilaris and koilonychia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Loose anagen syndrome is due to defect in

A

defective inner rooth sheath keratinization resulting in easily and painlessly plucked hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Hypertrichosis cubiti clinical features?

A

terminal hair that disappears by puberty. 90% in anagen phase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Acrodermatitis Enteropathica inherited?

A

AR SLC 39A4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Hartnup disease d/t mutation in what?

A

SLC6A19 which encodes a neutral amino acid transporter. Think of Hartman in the sun

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Hartnup disease pathophys

A

inadequate absorption of tryptophan from GI tract, which leads to decrased nicotinic acid, and pellagra-like symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Hartnup cutaneous eruption?

A

Presents in childhood as acute photodermatitis (blistering) after sun exposure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Hartnup Tx?

A

oral nicotinamide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Phenylketonuria pathophys?

A

Inability to convert phenylalanine to tryptophan, causing hypopigmentation, dermatitis, photosensitivity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Phenylketonuria Tx?

A

Avoid aspertame, low phenylalanine diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Homocystinuria mutation?

A

Mutation in cystathionine beta synthetase. Can’t convert homocysteine to cystathioine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Homocystinuria cutaneous findings?

A

Livedo reticularis, leg ulcers, malar eyrthema, hypopigmentation of skin and hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Homocystinuria non-cutaneous findings?

A

Clots in the heart, brain, veins. Ectopia lentis (downward displacement of lens), marfanoid habitus, mitral valve prolapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Lesch Nyhan mutation? What does it cause

A

XLR disorder in hypoxanthine guanine phosphoribosyl transferase leading to increased uric acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Lesch Nyhan diaper finding

A

Orange uric acid crystals in the diaper or hematuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Lesch Nyhan pts die from?

A

Renal failure. Uric acid nephropahty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Prolidase deficiency missing enzyme prolidase which does what?

A

catabolizes proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Prolidase Deficiency cutaneous findings:

A

Severe ulcerations of the lower extremities, hypertelorism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Alagille syndrome mutation in?

A

AD, JAG1 (encodes ligand for Notch receptor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Alagille syndrome findings?

A

Triangle facies, Tuberous xanthomas, congenital heart disease, hypercholesterol (>200), hypertriglyceridemia (>1000)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Alagille syndrome tx?

A

Liver failure by 3 months. Liver transplant d/t congenital intrahepatic biliary hypoplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Hunter Syndrome

A

Hyerptrichosis, coase facies, pebbled ivory plaque on back

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Cutis Laxa can be transmitted AD, AR, and XLR, what are the mutations?

A

AD mutation in elastin gene or fibulin 5 gene. AR mutation in fibulin 5. XLR mutation in ATP7A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Cutis Laxa clnical picture?

A

Hound-dog facies, loose, saggin skin, deep voice.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

Cutis laxa histology?

A

sparse, fragmented elatic fibers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

AD cutis laxa

A

mostly skin findings, but may have cardiac valve abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

AR cutis laxa

A

Hypoplastic lungs and emphysema, GI diverticulosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

XLR cutis laxa

A

wedge shaped occipital calcifications

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

Acquired cutis laxa d/t which drugs or systemic disease?

A

Penicillamine (wilsons disease), Isoniazid, or SLE, RA, sarcoidosis

82
Q

PXE inherited how? Mutation causes what?

A

Inherited AR. Mutation causes mineralization of elastic tissue of the yes, skin, arteries

83
Q

PXE ocular, cardiovascular, GI, obstetric complicatoin?

A

Angiod streaks, MI, Stroke, MV prolapse, Gastric artery hemorrhage, First trimester miscarriage

84
Q

PXE morbidity and mortality due to

A

hemorrhage or athlersclrotic disease

85
Q

Name all the diseases that can result in angiod streaks?

A

Sick Thelma Eating Lead Chicken Bones (sickle cell, thalessemia, EDS, lead poisioning, PXE, bone pagets)

86
Q

Classic EDS mucocutaneous findings

A

fishmouth scars, cigarette scars, molluscoid pseudotumors 9overyling extensor joints and pressure points), Gorlin’s

87
Q

Type 3 EDS is what type?

A

Hypermobile with dislocations and subluxation. Deficiency in tenascin X.

88
Q

Type 4 EDS is what type?

A

vascular EDA. Rupture of bowel, uterus or arteries. Most life-treatening form

89
Q

Type 4 EDS . What rupture is most common?

A

Intestinal rupture (sigmoid colon)

90
Q

Type 4 EDS. What mutaiton?

A

Collagen type 3

91
Q

Buschke Ollendorf mutation causes what

A

Increased TGFbeta signaling

92
Q

Buschke Waldorf clinical symptoms include?

A

Think of a painter jumping on trampoline (elastomas), while drawing a jackpollack painting (osteopoikiosis and Melorheostosis candle wax)

93
Q

Buschke ollendorf tridad?

A

dermatofibrosis lenticularis disseminata, osteopoidkilosis, melorheostosis

94
Q

First clinical sign of lipoid proteinosis?

A

Hoarse or weak cry due to vocal cord infiltration of hyaline material in dermis. May cause early death if causing respiratory difficulty/infection

95
Q

Describe the first and second stage of lipoid proteinosis

A

First state is vesicles and ice pick scars in areas of trauma. 2nd stage is waxy nodules on the body and along eyelid

96
Q

describe the tongue in patients with lipoid proteinosis

A

thickened and woody with inability to protrude d/t a shortened frenulum

97
Q

describe the neurologic symptoms of pts with lipoid proteinosis

A

bean shpaed clacifaction in the temporal lobes of hippocampus causing seizures

98
Q

Lipoid proteinosis deposits of what?

A

Collagen type 2 and type 4 and laminin

99
Q

Focal dermal hypoplasis (Goltz) inherited how? Mutation in

A

XLD because it is lethal in males. Mutation in PORCN gene which regulates Wnt signaling

100
Q

Goltz memonic?

A

FOCAL for female, XLD, osteopathia striata, colobomas, aplasia ectoderm (absent teeth), lobster

101
Q

Goltz picture memonic

A

Lobster fighting a porcupine over rasberries (papillomas on lips and anogenital region)

102
Q

Restrictive dermopathy. What are the prenatal manifestations?

A

Present with fetal akinesia, polyhydramnios, premature rupture of membranes

103
Q

Sequale of Restrictive dermopathy?

A

Death secondary to respiratory insufficiency shortly after birth

104
Q

marfan mutation also causes what other syndrome?

A

Stiff Skin syndrome

105
Q

What is stiff skin syndrome?

A

progressive development of stony-hard skin on shorts and shoulder area causing joint contractures, and facial sclerosis

106
Q

How do you prevent secondary amyloidosis in patients with FMF?

A

Give colchicine

107
Q

Treatments for patient with autoinflammatory disorders?

A

Anakinra and canakinumab

108
Q

Muckle Well key clnical findings

A

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
Q

Muckle Wells gene mutatoin

A

cryopyrin. Kid is cyring in the well that he fell into.

110
Q

Muckle Wells patients have a risk of what?

A

systemic secondary amyloidosis

111
Q

Neurofibromatosis is a mutation in what?

A

Mutatoin in neurofibromin, a tumor suppressor gene, that usually negatively regulates Ras

112
Q

Neurofibromatosis finding in infancy, prepubertal, adolescence, adulthood?

A
  1. Cafeaulait, sphenoid wing dysplasia, plexiform NFs 2. optic giomas, Freckling 3. lisch, NFs 4. MPNST
113
Q

What other tumors can ppl with NF1 get?

A

pheochromocytoma, Wilms tumor, chronic myelogenous leukemia

114
Q

How do neurofibromas look in NF2?

A

NFs are subcutaneous w/ overlying pigment/hair, usually less than 2 CALMs.

115
Q

Mutation in Tuberous Sclerosis causes what?

A

Harmartin and tuberin which are tumor suppressor genes that inhibit signal transduction of downstream effectors of mTOR

116
Q

What portends a worse prognosis in TS patients?

A

Infantile spasms, large number of coritcla tubers, early age of onset of seizures (mortality)

117
Q

Top 2 causes of death in TS?

A
  1. complications related to seizures 2. renal disease
118
Q

What are the brain, heart, lung and renal tumors in TS?

A

Subependymal giant cell astrocytomas, cardiac rhabdomyomas, pulmonary lymphoangioleiomyomatosis, renal angiomyolipomas and RCC

119
Q

Tuberous sclerosis finding in infancy, prepubertal, adolescence, adulthood?

A
  1. Hypomelanotic macules 2. Angiofibromas, Shagreen patch 3. Ungual fibromas 4. Intraoral fibromas
120
Q

What tumors in tuberous sclerosis are there in infancy?

A

brain and heart (subependymal nodules, cardiac rhabomyomas)

121
Q

Incontinential pigmenti mutation? What does it cause?

A

Mutation in NEMO which prevents activation of NFkB

122
Q

Females with missense mutatoin in NEMO (mild IP) can bear childresn with what?

A

Hypohidrotic ectodermal dysplasia with immunodeficiency

123
Q

Severely affected IP patients can develop what?

A

Seizures, developmental delay, and blindness (d/t retinal vascular anomalies)

124
Q

What other cutaneous findings do IP patients have?

A

IP and SAT like AP and SAT. Subungal tumors, Anodontia, Teeth (conical or pegged)

125
Q

Progeria and Restrictive Dermopathy share a mutation in what? What does that protein do?

A

Lamin A. Lamin A contributes to the structure / function of the nuclear envelope

126
Q

Most common cause of death in Progeria?

A

Cadiovascular disease

127
Q

Werner syndrome mutation in

A

RECQL2, encodes a DNA helicase, which inhibits DNA synthesis and shunts replication to telomere-driven replicative senescence

128
Q

Werner syndrome has incrased risk of what malignancy?

A

fibrosarcoma, osteogenic sarcoma, breast, ovarian, thyroid, skin cancers

129
Q

Werner syndrome: when do they die

A

Typically in th emid 50’s from malignancy and cerebrovascular cardiovascular events

130
Q

Xeroderm Pigmentosum due to mutation in proteins that

A

are important in the nucleotide excision repaire pathway

131
Q

Most common subtypes of XP are

A

XPA and XPC

132
Q

Describe XPA

A

increased risk of early neurodevelopment

133
Q

Mutation in XPV

A

mutation in DNA polymerase

134
Q

XPB and XPD are special because

A

a/w cockayne (retinal degen, basal ganglia) and trichothiodystrophy

135
Q

Bloom syndrome mutation causes

A

RECQL3, increased rates of sister chromatid exchange and chromosomal instability

136
Q

Cutaneous manifestations of BLOOM

A

photosensitivity, telangiectatice erythema, CALMS

137
Q

Other features of Bloom syndrome

A

Short, hypogonadism, decreased IgA and IgM. Late bloomers don’t have balls

138
Q

Werner, XP, Bloom, Rothmund Thomson, and Cockayne are inherited?

A

AR. Note progeria is inherited AD

139
Q

Rothmund Thomson syndrome clinical findings

A

Blisters on the cheeks, then poikiloderma. Acral keratosis that cause SCC. Cataracts. Hypogonadism

140
Q

Rothmund Thomson mnmonic

A

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
Q

Rothmund Thomson die of

A

Malignancy (osteosarcoma 14yo, then NMSC at 30yo)

142
Q

Cockayne Syndrome mutation in, which causes

A

mutation in transcription coupled Nucleotide excision repair. Inability to resume RNA synthesis after UVR exposure

143
Q

Do cockayne patients have increased risk of skin cancer like XP?

A

No increased risk of skin cancer. Also lacks pigmentary changes.

144
Q

What do cockayne pts die from?

A

Most die by 4th decade from progressive neurologic disease

145
Q

Cockayne syndrome non-cutaneous manifestations?

A

Basal ganglia clacification, demyelination of CNS, Cachetic dwarf, Salf and pepper retinopathy

146
Q

Group of diseases with britle hair and nails. With decresed cysteine-rich proteins

A

Trichothiodystrophy

147
Q

Trichothiodystrophy Mnemonic?

A

PIBIDS

148
Q

What does PIBIDS stand for?

A

Photosensitivity (no increased skin cancer risk), Ichthyosis, Brittle Hair, Intellectual impairment, Decreased fertility, Short stature

149
Q

What two types of hair do you see in trichothiodystrophy?

A

Trichoschisis and trichorrhexis nodosa (imagine breaking a broom) PIBIDS

150
Q

EBV is associated with what light eruption?

A

Hydroa Vacciniforme

151
Q

Do lesions scar in Hydroa vacciniforme?

A

Yes, when lesions resolve, they leave punched out varioliform scars

152
Q

Children with hydroa lesion and fever and lymphadenopahty and hepatospelnomegaly should be evaluated for?

A

EBV associated lymphoproliferatie disorder

153
Q

Natural history of hydroa vacciniforme vs Actinic prurigo?

A

Hydroa vacciniforme resolves at puberty. Actinic prurigo persists

154
Q

Flare at what times of year: hydroa vacciniforme vs Actinic prurigo?

A

Hydroa flares in summer only. Actinic prurigo flares in spring, but doesn’t completely go away even in winter

155
Q

What are other cutaneous findings in ppl with actinic prurigo?

A

Actinic chelitiis, Actinic conjunctivitis (epiphora, photophobia)

156
Q

Tx for actinic prurigo?

A

Thalidomide

157
Q

Juvenile spring eruption occurs in boys vs girls ? and flares on the ?

A

Flares on the helical ears

158
Q

Avoid topical steroid usein in which diaper dermatitis?

A

granuloma gluteale infantum.

159
Q

Juvenile plantar dermatosis is a ?

A

Frictional irritant dermatitis

160
Q

What syndrome is allelic with LEOPARD syndrome and both have pulmonic stenosis?

A

Noonan syndrome

161
Q

which syndrome has ulerythema ophryogenes?

A

Noonan syndrome

162
Q

Which syndrome has leg ulcers?

A

Klinefelter

163
Q

What do mast cells stain?

A

Toluidine blue, Giemsa, Leder, Tryptase, CD117 (kit)

164
Q

For mast cell disorders, if tryptase levels are normal, what else can you test for?

A

Urinary histamine and histamine metabolites (1,4 methylimidazole acetic acid) MIAA and NMIAA

165
Q

Primary immunodeficiency with erythroderma?

A

Omenn syndrome, SCID

166
Q

If transplacental materal T lymphocytes occur in neonates with SCID, what happens?

A

May leave to clinical signs of graft vs host disease

167
Q

Wiskott-Aldrich mnmonic

A

TIE (thrombocytopenia, infections with encapsulated bacteria, Eczema. Decrease IgM increased IgD, E, A

168
Q

Female carriers of xlinked CGD may have a higher risk of

A

lupus

169
Q

If you look at the Bone Marrow of WHIM patients, what do you see?

A

Myelokathexis. Peripheral neutropenia with retention of neutrophils in the bone marrow.

170
Q

Icthyosis vulgaris histology

A

diminished/absent granular layer w/ overlying orthohyperkeratosis

171
Q

Steroid C. sulfatase deficiency associated clinical features?

A

Corneal comma-shaped opacities, cryptoorcidism, increased risk of testicular cancer

172
Q

Lamellar ichthyosis has a mutation in what two genes. What do ou see on EM?

A

TGM1( see thin cornified envelope) and ABCA12 (absense of lamellar body content)

173
Q

Lamellar ichthyosis vs Steroid sulfatase. Which one spares the flexures?

A

Steroid sulfatase deficiency spares the flexures

174
Q

Number 1 cause of collodion membrane at birth?

A

Congenital ichthyosiform erythroderma

175
Q

Tx for harlequin ichthyosis?

A

early initiation of systemic retinoids

176
Q

Epidermolytic Ichythosis mutation in

A

Keratin 1 and 10

177
Q

What not to give patients with epidermolytic ichthyosis?

A

Retinoids can exacerbate skin fragility

178
Q

Netherton syndrome patients have what type of hair findings

A

Trichorrhexis invaginata, trichorrhexis nodosa, pili torti

179
Q

Netherton syndrome patients have what immunoglobulin finding?

A

Increased IgE

180
Q

Sjogren-Larsson Syndrome have what associated clinical features?

A

Progressive spastic tetraplegia, photophobia, perifoveal glistening white dots

181
Q

Peripheral blood smear with lipid vacuoles in granulocytes, eosinophils, and monocytes

A

Neutral lipid storage disease w/ ichthyosis

182
Q

What associated clinical features do ppl with neutral lipid storage disease w ichthyosis have?

A

Hepatomegaly and developmental delay

183
Q

Increased plasma phytanic acid is seen in

A

Refsum disease

184
Q

What other clinical features do ppl with Refsum disease have?

A

Periperal neuropathy, Cerebellar ataxia, salt and pepper atypical retinitis pigmentosa

185
Q

what diet do patients with Refsum need ot have?

A

low green vegetables, dairy products and ruminant fats

186
Q

KID syndrome kids are susceptible to what?

A

Increased susceptibility to oral and cutanoeus SCC

187
Q

CHILD and Conradi Hunnerman Happle Syndrome are inherited how?

A

Inherited XLD and both with stippled epiphyses and chrondrodysplasia punctata

188
Q

Cutaneous features of CHILD?

A

Unilateral pink yellow adherent scale that changes into verrucous hyperkeratosis

189
Q

Non cutnaeous features of CHILD?

A

Ipsilateral skeletal hemidysplasia, ipsilateral organ hypoplasia, stippled epiphyses

190
Q

Cutaneous features of Conradi Hunermann?

A

Generalized erythema with feathery blaschkoid adherent scale that is replaced with follicular atrophoderma on the forearms and dorsal hands

191
Q

non cutaneous features of Conradi Hunermann

A

Stippled epiphyses on XRAY only during infancy

192
Q

Naxos syndrome findings

A

Diffuse PPK with wooly hair and Right ventricle cardiomyopathy

193
Q

Voner syndrome is what type of PPK? Mutation in ?

A

Epidermolytic PPK. Mutation in 1 and 9

194
Q

Mutilating Vohwinkel has mutations in what? What does each mutaion cause?

A

Connexin 26 causes sensorineurla deafness. Loricrin causes ichthyosis

195
Q

Striate PPK d/t

A

desmoglein 1

196
Q

Richner T. Handhart syndrome d/t mutation in

A

Tyrosine amino transferase TAT

197
Q

Richner T. Handhart syndrome clincal features?

A

Focal pinful PPK on weight bearing areas, dendritic keratitis, corneal ulcers and blindness

198
Q

Thick yellow PPK on weight beearing areas that start in the teens, what PPK do you think of?

A

Howel Evans syndrome with risk of esophageal cancer in 20’s to 40’s up

199
Q

Tangier disease presentation? pathophys?

A

Presents with tonsilar xanthomas. Unable to expel cholesterol to circulating HDL. HDL is low.

200
Q

Beta-sitosterolemia presentation?

A

tendinous and tuberous xanthomas in childhood. Normal cholesterol and triglycerides, but very high sitosterol

Clinical Dermatology (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions