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Derm Andrews > 27- Congenital/Genodermatoses > Flashcards

27- Congenital/Genodermatoses Flashcards

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Dermatology Board Prep flashcards
1
Q 
X linked dominant
Whorled pigmentation on trunk
Preceded by vesicular and verrucous changes
Appears in girls usually 4-6 weeks old
Usually resolve by 1 year of age
A

Incontinentia pigmenti

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2
Q

Histo of incontinentia pigmenti
Vesicular stage:
Verrucous stage:
Hyperpigmented stage:

A

Vesicular- spongiosis with eosinophils
Verrucous- dyskeratotic cells within epidermis
Hyperpigmented- dermal melanophages (pigment incontinence)

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3
Q

Most frequently involved extra cutaneous manifestations in incontinentia pigmenti

A

Teeth-90%
Bones-40%
CNS- 33%
Eyes-35%

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4
Q

This X linked dominant disorder is an important cause of neonatal seizures and encephalopathy

A

Incontinentia pigmenti

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5
Q

A variant of incontinentia pigmenti that manifests as hypopigmentation
Autosomal dominant, no vesicular/verrucous stages
Higher CNS abnormalities
Polycystic kidney disease

A

Incontinentia pigmenti achromians

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6
Q

Treatment for incontinentia pigmenti

A

None
Usually fades by 2 years old
May have minimal residual pigmentation in adulthood

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7
Q

Differs from incontinentia pigmenti by being autosomal dominant and reticular pattern of pigmentation
Abnormal dermatoglyphics-absent ridges on fingerprint
Mutation in keratin 14

A

Naegeli- Franceschetti- Jadassohn syndrome

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8
Q

Ichthyosis of skin similar to colloidon baby
Hyperkeratotic “whirl and swirl” pattern on erythematous skin
Waxy, shiny skin with crushed eggshell configuration

Ichthyosis clears within first year

A

Chondrodysplasia punctata

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9
Q

Associated nail changes with chondrodysplasia punctata

A

Platonychia

Onychoschizia

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10
Q

Most common sex chromosome disorder

A

Klinefelter syndrome

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11
Q

Cause of hypercoagulable state in Klinefelter syndrome

A

Increased plasminogen activator inhibitor 1

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12
Q

Patients with Klinefelter’s are at increased risk of developing

A

SLE

Cancers( male breast, hematogenous, sarcoma)

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13
Q

Frequent heart condition in Turner syndrome

A

Coarctation of the aorta

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14
Q

Conditions that may mimic Turner syndrome

A

Escobar syndrome (multiple pterygium syndrome)- autosomal recessive

Noonan syndrome- autosomal dominant

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15
Q

Manifestations that suggest a RASopathy

A

Congenital heart defects
Severe feeding difficulty
Developmental motor delay
Hair and skin anomalies

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16
Q

Patients with RASopathies are at an increased risk for developing

A

SLE

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17
Q

Classic triad of tuberous sclerosis only present in minority of patients

A

Adenoma sebaceum
Mental deficiency
Epilepsy

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18
Q

Sebaceous Angiofibromas in cheeks, nose and forehead
Shagreen plaque
Koenen tumors (periungual angiofibroma)
Ash leaf macules

A

Tuberous sclerosis

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19
Q

Diagnosis for tuberous sclerosis

A

Woods light- ash leaf macules
Xray/CT UTZ MRI- calcified intracranial nodules
Fundoscopy- retinal tumors
Renal UTZ- renal angiomyolipoma
Hand and foot xray- bone cysts and sclerosis

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20
Q

Two gene mutations in tuberous sclerosis

A

TSC1- hamartin

TSC2- tuberin

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21
Q

Treatment of tuberous sclerosis

A

MTOR inhibitors (everolimus)- angiofibromas

Adenoma sebaceum- laser/dermabrasion

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22
Q 
Autosomal dominant 
Neurofibromas 
Cafe au lait spots 
Giant pigmented hairy nevi
Sacral hypertrichosis 
Cutis verticis gyrata
Lisch nodules
A

NF1

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23
Q

Autosomal dominant
Bilateral acoustic neuromas
Absence of cutaneous lesions

A

NF2

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24
Q

NF2 patients are at greater risk of developing these tumors

A

Optic gliomas
Neurilemmomas
Meningiomas

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25
Q

Soft tumors that can be pushed down by light pressure (buttonholing)

Spindle cell proliferations with amphophilic myxoid stroma and mast cells

Proliferation of all supporting elements of nerve fibers

A

Neurofibromas

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26
Q

Virtually pathognomonic of NF1

A

Subcutaneous plexiform neurofibromas

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27
Q

Finding of how many cafe au lait macules measuring 1.5cm is diagnostic of NF1?

A

6 or more

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28
Q

Axillary freckling in NF1 is called _______ sign

A

Crowe’s sign

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29
Q

Patients with NF1 are four times more likely to develop malignancy than the general population

True or false

A

True

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30
Q

Children with NF1 are 200-500 times more likely to develop this cancer

A

Malignant myeloid disorders

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31
Q

NF1 and NF2 protein involved

A

Neurofibromin and merlin

32
Q

Not listed in the criteria but the presence of these findings are strongly associated with NF1

A

Nevus anemicus
Xanthogranuloma
Glomus tumor

33
Q

Best imaging procedure for px with evidence of hearing impairments or abnormal evoked responses in NF

A

MRI

34
Q

May be confused with neurofibromatosis

PTEN mutation
Greater number of cutaneous lesions also have most extra cutaneous abnormalities

Disproportionate overgroth, cerebriform plantar hyperplasia hyperostosis vascular malformations

A

Proteus syndrome

35
Q

Autosomal dominant
Retinal angioma, cerebellar medullary angioblastic tumors, pancreatic cysts, renal tumors and cysts

Usually no skin manifestations
Mutation of tumor suppressor gene at short arm of chromosome 3

A

Von Hippel Lindau Syndrome

36
Q

Cerebellar ataxia
Oculocutaneous telangiectasia
Sinopulmonary infections

Other features: choreic and atheroid movement, pseudopalsy of eyes

A

Ataxia telangiectasia

37
Q

Early death from ___________ occurs in >50% of ataxia telangiectasia patients

A

Bronchiectasis

38
Q

Ataxia telangiectasia patients have marked _____deficiency with decreased lymphocytes and absent thymus

What type of immunoglobulin

A

IgA

39
Q

Most common type of malignancy in ataxia telangiectasia

A

Lymphoma (B cell)
Leukemia
Breast

40
Q

Diagnosis for ataxia telangiectasia

A

High AFP and carcinoembryonic antigen

41
Q

Group of rare genetic disorders with formation of blisters in response to minor physical injury

A

Epidermolysis bullosa

42
Q

Internal involvement in EB primarily seen in recessive dystrophic type and also in junctional type

A

Esophageal and laryngeal

43
Q

What type of EB

EM- cleavage below basal lamina, anchoring fibrils are diminished or absent

A

Recessive dystrophic

44
Q

Roof or base (antigen localization):

EB Simplex

A

Base

45
Q

Roof or base (antigen localization):

Dystrophic EB

A

Roof

46
Q

Roof or base (antigen localization):

Junctional EB

A

BP antigen- roof
Type 4 collagen- base
LDA1- base

47
Q

Type of epidermolysis bullosa where the mucous membranes and nails are not usually involved

A

EB Simplex intermediate

48
Q

Gene mutations in EB simplex produce abnormality in which keratins?

A

Keratin 5 and 14

49
Q

Separation in EB simplex occurs in what layer of the skin

A

Basal cell layer

50
Q

Variant of EBS with active blisters in circinate configuration

Milia may develop
Oral mucosa involved, nails may shed but regrow

A

EB Simplex, generalized severe

51
Q

Autosomal recessive
Severe generalized blistering at birth and extensive denudation may be fatal within a few months

Sparing of hands, characteristic perioral and perinasal hypertrophic granulation tissue

A

Junctional EB, generalized severe

52
Q

Separation of junctional EB occurs at the level of

A

Lamina lucida

53
Q

Complete reepithelialization of Herlitz junctional EB can be achieved in

A

7-10 months

54
Q

Dysplastic teeth are found in _____ EB while normal teeth are in ______ EB

A

Junctional

Dystrophic

55
Q

Vesicles and bullae appear on extensor surfaces most pronounced in joints
Flesh colored scarlike lesions appear on trunk
Healing with scarring and atrophy
Mucous membranes involved

A

Dystrophic EB

56
Q

In dystrophic EB, cleavage occurs at the level of

A

Beneath basal lamina

57
Q

Clinical variant of dystrophic EB where there are mechanoblisters and nail deformities

Associated with mandibulofacial dysostosis, renal aplasia and congenital abnormalities of lower extremities

A

Bart syndrome

58
Q

Autosomal recessive, shares some features with dystrophic EB
Skin fragility with blistering, acral bullae, generalized poikiloderma with atrophy

Photosensitivity, acral keratoses, periodontal disease and phimoses

A

Acrokeratotic poikiloderma

59
Q

Principal histologic change in acrokeratotic pokiloderma:

Absence of elastic fibers in _______ dermis and fragmented fibers in ______ dermis

A

Papillary

Mid

60
Q

Trauma induced skin fragility and defects of hair, nails and sweat glands

Blisters noted on pressure points especially after prolonged standing or walking

Mutation in PKP1 gene

A

McGrath syndrome

Ectodermal dysplasia/ skin fragility syndrome

61
Q

Generalized and mucosal blistering
Mittenlike deformity- digital fusion with encasement in scar tissue
Dental complications, esophageal strictures
Anemia and growth retardation
High risk of developing SCC

A

Recessive dystrophic EB, generalized severe

62
Q

Persistently recurrent macerated plaques with a reticulated pattern of fissuring in flexural areas
May resemble impetigo

ATP2C1 gene
Acanthosis and full thickness acantholysis resembling a dilapidated brick wall

A

Hailey Hailey disease

Familial benign chronic pemphigus

63
Q

Autosomal dominant
Fine scales that appear pasted on body
Coarser scales on lower extremities, extensor surfaces most involved
Hyperkeratosis of palms, keratosis pilaris
Improves in adulthood

A

Ichthyosis vulgaris

64
Q

Histo: compact eosinophilic orthokeratosis
Granular layer reduced or absent
Keratohyalin granules appear spongy or fragmented

A

Ichthyosis vulgaris

65
Q

Type of ichthyosis due to steroid sulfatase deficiency
Associated with CS birth
Dark large scales prominent in anterior neck, extensors, trunk (abdomen more involved)

Dramatic clearance in summer
Does not improve with age

A

X linked icthyosis

66
Q

Autosomal recessive ichthyosis present at birth
Collodion like membrane, desquamation over 2-3 weeks of life
Grayish brown scales
Follicles have crateriform appearance
Ectropion present

A

Lamellar ichthyosis

67
Q

Lamellar ichthyosis px have decreased or absent

A

TGM1- transglutaminase 1 activity

68
Q

Born enclosed in a parchment/collodion like membrane

Ectropion of eyelids
Within 24 hours of birth, fissuring and peeling cast off in 10-14 days with rapid improvement, left with redness and scaling

A

Non Bullous congenital ichthyosiform erythroderma

69
Q

Ichthyosiform erythroderma is associated with what disease

A

Neutral lipid storage disease

70
Q

Disorder that affect the skin in utero
Thick, horny, armorlike plates covering surface
Rudimentary/absent ears, eclabium, entropion

Child stilborn

A

Harlequin fetus

71
Q

Blisters at or shortly after birth
Thickened, horny or spinelike ridged scales later
Prominent at flexures

Mutation in genes for K1 and K10
Less severe with age

A

Epidermolytic ichthyosis/hyperkeratosis

72
Q

Treatment of epidermolytic hyperkeratosis

A

High dose vitamin A 750,000U daily x 2 weeks

Systemic retinoids

73
Q

Lack of erythema
Mild hyperkeratosis limited to flexures
Superficial mottling/peeling (“mauserung phenomenon “)

A

Ichthyosis bullosa of Siemens

74
Q

Acquired ichthyosis can be due to

A 
Hodgkin/non hodgkin disease
Hypothyroidism
Sarcoidosis 
Hansen, AIDS, LE, dermatomyosistis
Drugs: nicotinic acid, statins
75
Q

Abnormal facies, tight skin, sparse eyelashes and secondary joint changes

Associated with polyhydramnios, reduced fetal movement and premature delivery

A

Restrictive dermopathy

76
Q

560

A

560

Derm Andrews (25 decks)

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