Gen Derm and Pediatrics 2 Flashcards
1
Q
medication that causes inflamed seb keratoses
A
cytarabine and taxanes
2
Q
how is serum-like sickness different form serum sickness?
A
real serum sickness has hypocomplementemia, circulating immune complexes, vasculitis and renal dysfunction
3
Q
above or below periosteum? Caput succeduaneum and cephalohematoma?
A
Caput is above the periosteum and cephalohematoma is below the periosteum
4
Q
Subgaleal hematoma is dangerous because it can
A
lead to DIC, shock, anemia. Need inpatient monitoring
5
Q
Name the 3 stages of transient neonatal pustular melanosis
A
Pusutules w/o erythema, then collarettes of scale, then hyperpigmented macules
6
Q
Transient neonatal melanosis and etox. Which one is at birth?
A
Transient melanosis at birth. Etox usually at 24 hrs.
7
Q
Epstein vs bohn. Which on is on the palatal raphe, and which is on the alveolar ridge?
A
Epistein is a pearl on the palatal raphe. Bohn is along the gum margin
8
Q
Collagenoma can be seen in what genodermatoses?
A
Shagreen path in tuberous sclerosis and cerebriform collagenoma in Proteus syndrome.
9
Q
Familial cutaneous collagenoma syndrome (3)
A
collagenoma, hypogonadism and cardiomyopathy
10
Q
Elastin connective tissue nevus can be seen in what genodermatoses?
A
Buschke-Ollendorff
11
Q
Becker’s nevus is associated with what of the underlying structures?
A
breast hypoplasia
12
Q
aplasia cutis is associated with what drug? What infection?what 2 genoderms?
A
Methimazole, HSV/VZV, adams oliver , bart syndrome
13
Q
describe adams oliver syndrome
A
aplasia cutis w/ cranial defect, CMTC, congenital heart defect, limb abnormalities (syndactyl, brachdactyl, oligodactyl)
14
Q
bart syndrome
A
aplasia cutis with dominant dystrophic epidermolysis bullosa
15
Q
Nasal glioma is
A
ectopic neuroectoderm
16
Q
Difference between meningocele and encephalocele?
A
Encephalocele includes brain (glial tissue).
17
Q
Which one will transluminate: nasal glioma, meningocele, dermoid cyst?
A
meningocele
18
Q
Accessory tragus is d/t faulty development of
A
the first brachial arch
19
Q
Goldenhar syndrome is due to abnormal development of
A
the first and second brachial arch
20
Q
goldenhar syndrome (3)
A
abnormal eyes, ears, and spine. Facial asymmetry, hearing impairment, hypoplasia of the maxilla
21
Q
where are congenital rest of the neck?
A
along the anterior border of the sternocleiomastoid
22
Q
Congential rubella is most severe when the mom is infected durign what period
A
first 12 weeks of gestation
23
Q
Congenital toxoplasmossis has what 3 head and neck findings?
A
Chorrioretinitis, hydrocephalus, intracranial calcification
24
Q
Treatment for congenital toxo?
A
Pyrimrthamin, sulfadiazine, folinic acid for 1 year
25
What is the most common congenital infection and cause of extramedullary hematopoeisis?
Congenital CMV, IV ganciclovir
26
Is this early or late congenital syphilis? (2yo): erosions on hands/feet and periorifical
early syphilis
27
Is this early or late congenital syphilis? (2yo): secondary syphilis like papulosuqamous lesions
early syphilis
28
Is this early or late congenital syphilis? (2yo): snuffles. What is snuffles?
early syphilis. Snuffles if persistent rhinitis with blood and white discharge
29
Is this early or late congenital syphilis? (2yo): mucous patches
early syphilic
30
Is this early or late congenital syphilis? (2yo): parrot pseduoparalysis. What is that?
early syphilic. Decreased movemenet of the upper limbs d/t pain. Arms are at sides.
31
Is this early or late congenital syphilis? (2yo): saber shins
late syphilis
32
Is this early or late congenital syphilis? (2yo): higoumenakis sign
late syphilis. Enlargement of medial clavicle
33
Is this early or late congenital syphilis? (2yo): mulberry molars, hutchinson notched teeth
late syphilis.
34
Is this early or late congenital syphilis? (2yo): saddle nose
late syphilis.
35
Is this early or late congenital syphilis? (2yo): perioral rhagades
late syphilis.
36
Is this early or late congenital syphilis? (2yo): clutton joins
late syphilis. Painless, symmetric swelling of knees
37
Congenital varicella is separated into fetal and neonatal infection. How is this defined?
Fetal VZV is within 20 weeks of gestation (like 20 dermatomes). Neonatal VZV is 7 days before, and 2 days after delivery.
38
Fetal varicella presents as? Prognosis?
Presents at birth with deep stellate scars, limb paresis, catarcts, micropthalmia, hydrocephalus. Prognosis depends.
39
Neonatal varicella presents as? Prognosis?
Presents within 2 weeks with vesicles, generalized. Fatality of 30% if infection is <5 days. After 5 days has a benign course.
40
Congenital herpes is separated into fetal and neonatal infection. How is this defined?
Fetal is d/t ascending infection. Neonatal is d/t infection during brith or perinatal period
41
Congenital herpes prognosis? Feal and neonatal
Fetal has 75% mortality if untreated. Neonatal herpes has 50% CNS infection and neurologic sequelae
42
Rubeloa virus? RNA, DNA?
Measeles. Paramyovirus ssRNA
43
Mealses incubation period?
1-2 weeks, then cough/coryza/conjunctivitis
44
Possible complication of measles?
encephaliits, myocardidits, and subacute sclerosing panencephalitis
45
Measles vaccine schedule
first at 1 year old, second at 5 years old
46
Rubella mucocutaneous findings include?
Forchheimer's spots (hard palate petechiae) and painful lymphadenopathy
47
Possibe complications of German measles?
Arthritis and arthralgias most common.
48
other names for slapped cheek diesease?
5th disease, erythema infectiosum, slapped cheek
49
slapped cheek caused by what virus?
parvo b19, ssDNA
50
what viral exanthem is not contageious when it skin eruption develops?
5th disease, erythema infectiosum, slapped cheek. Skin eruption coincides w/ development of IgG
51
Adults with slapped cheek, parvo b19 will develop what?
arthritis with small joint predominance
52
patients with petechiae and purpural that is sharply demarcated at the wrist. Can they go to school?
No, ParvoB19 virus is viremic at the time of skin eruption.
53
other names for 6th disease?
6th disease, roseaola infantum, exanthem subitum.
54
roseola d/t what virus?
HHV6.
55
roseola clinical picture?
incubate for 1-2 weeks, then high fever for 5 days, causing febrile seizures, nagayama spots
56
what are nagayama spots?
red macules on soft palate and uvula
57
Possible sequelae of roseola?
DRESS, because the HHV 6 remains latent in CD4 T cells
58
Coxsackie virus is part of what family of viruses?
PICORNA, along with polio, enterovirus, echovirus and hepatitis A
59
traditional Hand foot mouth caused by what coxsakie virus? Atypical one?
Traditional one caused by coxsakie a 16, EV17. Now the atypical ones are caused by coxsakie A6
60
Chronic mucocutanoeus candidiasis can be seen in APECED syndrome.
Autimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome
61
APECED syndrome d/t mutation of what?
AIRE (AutoImmuneRegulator) mutation which results in failture of T cell tolerance with resultant autoimmunity
62
APECED syndrome features include?
Hypoparathyroidism, alopecia areata, vitiligo, pernicious anemia
63
OCA1a and 1b d/t mutations in what?
TYR (absent in type 1a, decreased to 10% of normal level in type 1b)
64
Temperature senstive OCA is what type?
OCA1b subtype (obvi, cuz they have some pigment)
65
What OCA type is the most common, whats the mutation?
OCA type 2, seen in africans. (P gene).
66
Prader Willi and Angelman syndrome + 2nd mutation give you
OCA 2 like hypopigmentation in 1% of PW and angelman patients
67
OCA, Chediak Higashi, Griscelli, Hermansky Pudlak are all inherited how?
Autosomal recessive
68
Griscelli 1,2,3 associated with what? Least severe Griscelli
GS1 severe neurologic impairment, GS2 (combined immunodeficiency), GS3 (cutaneous- least severe)
69
Most common type of OCA in japan?
OCA type 4 due to mutation in SLC45A2
70
Chediak Higashi Syndrome presents with what syndrome?
Silverly hair, OCA, immunodeficiency, bleeding diathesis, neurologic degeneration
71
Chediak Higashi patients have a poor prognosis. When do they die, from what?
Die at age 10 as a result of lymphoproliferative accelerated phase/hemophagocytic syndrome
72
Whats Elejalde syndrome?
Variant of Gricelli Syndrome 1 with severe neurologic dysfunction, but no immunodeficiency
73
Hermansky Pudlak syndrome composed of what symptoms?
Nosebleeds, menorrhagia, granulomatous colitis, progressive pulm fibrosis, renal failture d/t lysosomal ceroid lipofuscin
74
Griscelli syndrome d/t what global cellular defect? What does trichoscopy show?
D/t aberrant translocation of melanosome along microtubules causing larger, irregularly clumped melanin
75
Chediak Higashi d/t what global cellular defect? What does trichoscopy show?
D/t impaired biosynthesis and storage of melanosomes, platet granules. Trichoscopy shows regularly spaced melanin
76
Melanocytes with giant melanosome seen in?
Chediak Higashi
77
Which griscelli has a accelerated phase /HLH?
GS2
78
Most common cause of death in Hermansky Pudlak?
pulmonary fibrosis
79
Which pigmentary disorder shows an absense of dense bodies in platelets on EM?
Hermaky Pudlak
80
Waardenburg is inherited AR or AD?
Inherited AD
81
Waardenburg syndrome 1. Mutation and what clinical symptoms?
PAX3. White forelock, unibrow, different iris colors, dystopia canthorum, deafness
82
Waardenburg syndrome 2. Mutation and what clinical symptoms?
MITF. Like WS1 minus dystopia canthorum. More likely to be deaf.
83
Waardenburg syndrome 3. Mutation and what clinical symptoms?
PAX3. WS1 with hypoplasia, contracture and syndactyly of the fingers.
84
Waardenburg syndrome 4. Mutation and what clinical symptoms?
SOX10. WS1 plus hirschsprung's disease
85
McCune Albright is inherited how? Mutation in what gene?
Trick. It is not inherited. It is a post zygotic mutation in GNAS1
86
Describe polyostotic fibrous dysplasia of McCune albright.
Usually under the CALM. Manifests as pain, deformity, recurrent fractures.
87
Endocrine abnormalities of McCune Albright include what?
precocious puberty, hypophosphatemic rickets, infantile Cushing.
88
Dowling Degos, inherited how? Mutation in what?
Inherited AD. Mutation in Keratin 5
89
How does dowling degos present? What's on the neck/back?
Presents during adulthood w/ reticulated hyperpigmentation involving axilla and groin. With comedones on the neck/back
90
Mutation in dyschormatosis symmetrica hereditaria?
ADAR gene. Encodes RNA specific adenosine deaminase. Dyspigmentation on extremities and face
91
Dyskeratosis congenita inherited how?
XLR (most common)
92
Dyskeratosis congenita mnmonic
TeLOMPuPaPi (telomere, leukoplakia, onychodystrophy, boneMarrow failure, Pulmonary fibrosis, Pigmentation, Palmoplantar hyperkeratosis)
93
Dyskeratosis congenita has increased risk of what malignancies?
Hematologic malignancy, squamous cell of oral mucosa
94
Dyskeratosis congenita pt die on average at 16yo. What are causes?
Pancytopenia d/t BM failure, SCC/hematologic malignancy, pulmonary fibrosis
95
Naegeli-Franceschetii-Jadassohn Syndrome d/t mutation in? Clinical?
Mutation in Keratin 14 (like EBS w/ mottle). Hyperpigmentation while a child, dental anomalies (loss of teeth), PPK
96
Dermatopathica pigmentosa reticularis d/t mutaiton in? Clinical?
Mutation in Keratin 14 (like EBS w/ mottle). Hyperpigmentation permanent and diffuse non-scarring alopecia
97
All the lentigiene syndrome are inherited how?
Autosomal dominant
98
multiple granular cell tumors associated with
LEOPARD syndrome
99
LEOPARD syndrome mnemonic.
lentigienes, EKG (cardiomyopathy), ocular hypertelorism, pulmonic stenosis, abnormal genitalia (hypogonad, cryptorchidism), retardation of growth, deafness
100
Primary pigmented adrenocoritcal disease, Sertolic cell tumor, Psammomatous schwannoma seen in what syndrome?
Carney complex
101
What are the GI symptoms with Peutz Jegher?
GI polyps in jejunuma nd ileum, causing intussusception
102
What other cancers in Peutz Jegher?
GI, lung, breast.
103
Cronkhite-Canada symptoms?
Hair Skin nails (alopecia, lentigines, nail dystrophy) + intestinal polyposis
104
Banana Riley mutatoin and clinical symptoms?
PTEN, penile lentignese, lipomas, hydrocephaly, also with intestinal polyps
105
All the tumor syndromes (Gorlin, Birt Hogg, Cowden, Gardner, Brook) are inherited how?
Autosomal dominant
106
Gorlin is a mutation in what gene that encodes for what?
PTCH gene that encodes for the PATCH protein which suppresses SHH
107
What's the major criteria for Gorlin syndrome?
More than 2 BCC (or 1 before 20yo), plamoplantar pits, odontogenic keratocysts, calcification of falx, medulloblastoma, 1st degree relative
108
minor criteria for Gorlin syndrome includes?
Frontal boss, bifid ribs, ovaria/caridac fibroma
109
Name 5 syndromes w/ multiple BCC
Gorlins, Bazex Dupre, Rombo, Brooke Spiegler, Scheopf Schulz Passarge
110
Birt Hogg Dube Associations
FAT hogg RoLs: Fibrofolliculoma, Acrochordons, Trichodiscomas, RCC, spontaneous recurrent pneumothorax
111
Brooke Spiegler Associations
Red, White Blue Spiralizer (Cylindroma, Trichoep, BCC, Spiroadenoma) Salivary and parotid gland tumor.
112
MEN 1 has cutanous findings similar to?
Tuberous sclerosis + Pit Par Pan
113
Men 2a and 2b both have? What else do they have?
Pheochromocytoma, and medullary thyroid carcinoma. 2a has parathyroid hyperplasia, 2b has mucosa neuromas
114
What cutanoue findings do Men 2a have?
lichen and macular amyloidosis
115
name 5 cutaneous findings for cowdens
Sclerotic fibroma, lipoma, palmoplantar keratoese, acral keratoses, tricholemmomas,
116
Most common malignancy in cowdens, other malig
breast adenocarcinoma, follicular thyroid carcinoma, endometrial carcinoma
117
Lhermitte Duclos Disease is pathognomoic for?
Cowdens. Tumor of the cerebellum. Overgrowth of cerebellar ganglioin cells
118
Gardner syndrome cutaneous manifestations include?
epidermoid cysts, pilomatricoma, lipomas, painless osteomas of the skull/mandible
119
What non-cutaneous findings is Gardner syndrome associated with?
GI adenocarcinoma (prophylactic colectomy needed), desmoid tumor blocks ureter or Small bowel, CHRPE (congenital hypertrophy of retinal pigment epithelium)
120
EB SImplex inheritance?
AD except for EBS with muscular dystrophy AR
121
Junctional EB inheritance?
AR
122
Dystrophic EB inheritance?
AR except for DDEB
123
EBS mutatoin?
keratin 5/14 except for EBS w/ muscular dystrophy which is plectin
124
EBS localized and generalized symptoms?
tense bullae on hands, feet, friction. No scarring. Some oral bulle in the generalized
125
EBS generalized severe symptoms?
Clustered hyerpetiform bullae. Some scarring. Oral blisters, nail dystrophy, palmoplantar hyperkeratosis, clumped tonofilaments on EM
126
When does EBS with muscular dystrophy present?
muscle weakness is delayed (develop in infancy through adulthood)
127
Rarest form of EB?
JEB
128
What do you find in all forms of JEB?
enamel hypoplasia/pitting
129
What are the mutations in JEB? Generalized severe, Gen-inter, pyloric atresia
Generalized severe (laminin 332), Generalized intermediate (Laminin 332 + BPAG2), JEB pyloric atresia (a6b4 integrin)
130
JEB generalized severe cutaneous and non cutaneous features? Prognosis
Perioral blisters (which becomes perioral grnaulation tissue), hoarse cry, death within first few years from respiratory failure or sepsis.
131
JEB generalized intermediate cutaneous and non cutaneous features? Prognosis
Generalized blisters on skin and mouth, which heal with atrophic scars. Also has scarring alopecia. Survive to adulthood
132
JEB w pyloric atresia associated clinicla features?
Pyloric atresia, Ureteral stenosis (scarred urinary tract)
133
Dystrophic EB mutation?
Collagen 7 (complete lack of anchoring fibrils in RDEB, generalized)
134
Dominant DEB features?
Atophic scarring, milia, NAIL DYSTROPHY
135
Recessvie DEB features? Die from?
Mitten deformities, esophageal strictures, renal failure. Die from SCC, then it's Renal failure
136
Kindler Syndrome Features?
Blisters and photosensitivty and poikiloderma.
137
What do you see in Kindler syndrome on electron microscopy?
duplication of lamina densa. FERMT gene
138
PHACES stands for
Posterior fossa malformation, hemangioma, arterial anomalies, coarctation of aora, eye (cataracts), sternal cleft
139
Suspect neonatal hemangiomatosis if more than how many hemangiomas
If 5 or more hemangiomas
140
Neonatal hemagiomatosis can lead to
Liver failture or high output congestive heart failture
141
Tx for Kasabach Merritt Phenomenon?
Vincristine and Systemic steroids
142
Struge Weber mutatoin
somatic mosaic mutation in GNAQ
143
Head CT shows what in Sturge Webeer?
Tram Tracking
144
Most common form of Phakomatosis Pigmento vascularis? What is it associated with?
Type 2. Associated with Sturge Weber, Parkes Weber or KTS
145
Phakomatosis pigmentokeratotica
Nevus spilus in conjuection with nevus sebaceous. Hypophosphatemic vitamin D resistant rickets
146
Klippel Tresaunay Syndrome complications include
High output cardiac failure
147
What tumors are proteus syndrome ppl at risk for?
Bilateral ovarian cystadenoma
148
What cutaneous findings do we see in Beckwith Wiedemann?
Facial capillary malformation, macroglossia, anterior earlobe crease
149
What tumors are Beckwith Wiedmann kids at risk for?
Wilms tumor, rhabdomyosarcoma, neuroblastoma
