Brainscape's Knowledge GenomeTM

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


See full index

Derm 2020 > Genodermatoses - metabolic and ichthyoses > Flashcards

Genodermatoses - metabolic and ichthyoses Flashcards

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

Darier Disease autosomal dominant

A

True

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

Darier Disease gene mutation?

A

Autosomal dominant missense mutation in ATP2A2

- mutation in calcium signalling , ATP2A2 encodes an endoplasmic reticulum (ER) Ca2+ ATPase pump, SERCA2

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

What is the typical age of onset of Darier disease

A

6-20y, adolescence. Peak onset puberty 11-15y

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

Darier Disease papules are limited to perifollicular location

A

False

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

Darier disease can develop sterile vesicles and bullae

A

True

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

Oral manifestations of darier disease

A

Cobblestone mucosa
Painless whitish papules or rugose plaques in 15-50%
Hard palate most common site of involvement, followed by gingiva, buccal mucosa and tongue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Darier disease is associated with increased malignancy

A

True - rarely related to oncogenes types of HPV or changes in keratinocytes adhesion/proliferation. SCC of skin and upper GIT in mouse models

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

List less common presentations of darier disease

A 
Guttate hypopigmentation
Vesiculobullous lesions
Acral haemorrhagic lesions
Keratoderma (spiked)
Comedones, facial cysts, acne, conglobata
Periocular nodulocystic lesions
Alopecia, cutis verticis gyrata
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Gluteal cleft is frequently involved in darier disease

A

False - uncommonly although other intergtriginous sites are involved

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

Extracutaneous manifestations of darier disease

A

Ocular - corneal ulcerations and staph end-ophthalmitis
Salivary gland obstruction
Infections - bacteria, viral, yeast, fungal
Neuro - epilepsy, intellectual impairment, and mood disorders have been reported in association with darier disease

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

Histopathology of darier disease

A

Acantholysis due to disturbance in cell adhesion leading to suprabasilar cleft formation
- two types of dyskeratotic cells : corp ronds (acantholytic enlarged keratinocytes with partially fragmentednuclei surrounded by clear cytoplasm encircled by bright ring of collapsed keratin bundles)
& grains (shrunken parakeratotic nuclear remnants)

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

Clinical subtypes of darier disease

A
  1. Acral haemorrhagic type
  2. Segmental types 1 and 2
    —> two types with distribution along lines of Blaschko
    —> more common is type 1 mosaicism (post zygotic. If have mutant cells in gonads, pt can have offspring with generalised darier). Type 2 segmental May have generalised Diarer with linear streaks of incr severity.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Hailey hailey genetic mutation

A

ATP2C1 —> autosomal dominant

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

Usual time of onset of Hailey Hailey disease

A

2nd or 3rd decade

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Nail features of hailey hailey

A

Longitudinal leukonychia

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

Oral manifestations of hailey hailey

A

Painless oral EROSIONS , buccal, and also vaginal or conjunctival involvement

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

Histology of hailey hailey

A

Loss of intercellular adhesions , larger areas of dyscohesion with single or groups of acantholytic cells are seen which have been likened to a delapidated brick wall
- dermal papillae are lined by single layer of basal cells and protrude into blister cavities —> “villi”

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

Clinical subtypes of hailey hailey

A

Segmental type 1 —> caused by heterozygous post zygotic mutation in otherwise normal embryo , resulting in mosaic distribution of disease with age of onset and severity similar to non mosaic phenotype
Segmental type 2 —> earlier age of onset caused by post zygotic mutation also leading to a more severe disease in mosaic pattern

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

FABRY disease mutation

A

X-linked lysosomal storage disorder

Due to defect in GLA (encodes a-galactosidase A)

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

FABRY disease features

A

F - funny feelings (acral pain - painful crises -and paraesthesia), coarse Facies
A - angiokeratomas, abdo pain
B - breathing difficulties, cough and dyspnoea
R - renal impairment , retinal vascular abnormalities, corneal opacities
Y - hypohYdrosis, developmental delaY

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

Facial features of FABRY

A

Periorbital fullness, bushy eyebrows, buccal and conjunctival teles, thick lips, prognathism , prominent earlobes

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

Fucosidosis is associated with multiple angiokeratomas of skin and oral mucosa

A

True

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

Fucosidosis differs from FABRY in which regard?

A

Fucosidosis exhibits neuro developmental delay, sinopulmonary infections, organomegaly and incr sweat chloride test

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

Features of hypohidrotic ectodermal dysplasia

A 
Sparse of absent hair
Missing or peg or conical teeth
Decreased sweat capacity 
Hypothermia can be fatal in first few years of life
Periorbital wrinkling or darkening
Raspy or hoarse voice 
Sebaceous hyperplasia on the face clinically resembles milia
Nails usually NORMAL
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

T/F nails in hypohidrotic ectodermal dysplasia are usually normal

A

True

26
Q

Features of Clouston syndrome

A

Autosomal dominant
GJB6
Wiry, brittle and pale hair
Hair and nails with normal teeth and sweating but nails gradually thicken throughout childhood
Adults - nail plate grows slowly, thickened and separate from nail bed distally
Oral leukoplakia described
Sparse eyelashes can predipose pt to conjunctivitis and blepharitis
Patchy alopecia is common

27
Q

How is EHK inherited?

A

Autosomal dominant with 50% spontaneous mutations in KRT1 and 10

28
Q

EHK presentation

A

Newborn - can have widespread bullae, erythroderma, denuded skin, secondary sepsis, electrolyte imbalance +/- focal areas of hyperkeratosis
Later infancy to adulthood - localised to generalised hyperkeratosis with rare, focal bullae secondary to infection
- see dark, warty scales with spiny ridges more so in the flexures
==> widespread corrugated patterned scale with isolated bullae

29
Q

EHK histology

A

EHK with coarse ireregular hypergranulosis and increased keratohyalin granules + parakeratosis often in association with Disrupted cell membranes

30
Q

EHK widespread blistering clears after newborn period

A

True

31
Q

Lamellar ichthyosis is autosomal recessive

A

True

32
Q

Lamellar ichthyosis due to which gene?

A

Transglutaminase-1

33
Q

Features of lamellar ichthyosis

A

Newborn: collodion baby with translucent membrane encasing body, ectropion, eclabium, generalised erythroderma
Adult/child: generalised , dark plate like scale that is increased in the flexures. Can have erythroderma and ectropion, PPK, Hypohidrosis

34
Q

Non bullous CIE aka CIE , presents with collodion membrane

A

True

35
Q

Harlequin foetus gene mutation

A

ABCA12 - encodes protein transporting epidermal lipids

36
Q

Sjogren Larsson Syndrome triad

A

Congenital ichthyosis
Gradual development of Di or tetraplegia
Mental retardation

37
Q

Sjogren larsson inheritance

A

FALDH (fatty aldehyde dehydrogenase)

Autosomal recessive

38
Q

Ectropion and collodion membrane are common features of Sjogren Larsson

A

False, rare

39
Q

What is the pathognomonic ocular finding in Sjogren Larsson

A

Perifoveal glistening white dots

  • in ocular fundus
  • represents a form of juvenile macular degeneration
40
Q

Clinical features of Sjogren Larsson

A 
Scissor gait
Delayed motor development
Seizures in 40%
Dental/osseous dysplasia
Hypertelorism
Pruritus
41
Q

Sjogren Larsson not pruritic

A

False, persistent pruritus which contrasts to other ichthyosis

42
Q

Refsum syndrome inheritance

A

PAHX gene affecting catalysation of phytanic acid

Autosomal recessive

43
Q

Features of Refsum syndrome

A

Retinitis pigmentosum - with salt and pepper dyspigmentation , night blindness

  • sensorineural deafness
  • cardiac arrhythmia and heart block
  • MSK wasting
  • skin only mild ichthyosis
44
Q

Conradi-Hunermann-Happle syndrome inheritance

A

Emopamil binding protein EBP

X linked dominant

45
Q

Conradi-Hunermann-Happle syndrome clinical features

A

icthyosiform erythroderma in Blaschko’s lines in infancy

  • resolving with follicular atrophoderma or hyperpigmentation
  • coarse patchy alopecia
  • Stippled epiphyses (calcification punctate)
  • facies: frontal bossing, macrocephaly, flat nasal root
46
Q

Features of CHILD syndrome

A

NSDHL X linked dominant (no sons only daughter have life)
Congenital hemidysplasia with icthyosiform erythroderma and limb defects
Ipsilateral alopecia
Severe nail dystrophy
Can have stippled epiphyses like CHHunermann

47
Q

Neutral lipid storage disease inheritance and features

A

ABHD5 autosomal recessive
- can have collodion membrane
- cataracts, sensorineural deafness, developmental delay are frequent features
Growth retardation, ataxia, microcephaly and renal insufficiency

48
Q

Neutral lipid storage disease is characterised by which granulocytes anomaly

A

Jordan’s anomaly — lipid containing vacuoles in granulocytes and monocytes but NOT lymphocytes or erythrocytes

49
Q

Netherton syndrome hair abnormalities

A

Trichorrhexis invaginata (bamboo hair) , trichorrhexis nodosa, helical hair, pili torti

50
Q

Netherton syndrome gene

A

SPINK5 causing lack of functional LEKTI

Collodion baby possible but NOT generally a feature

51
Q

Netherton syndrome experience immunodeficiency

A

True involving memory B and NK cells

52
Q

How is trichothiodystrophy inherited?

A

Autosomal recessive - [possible cases of X-linked transmission]

53
Q

What is trichothiodystrophy

A

Group of heterogeneous neuroectodermal disorders —> associated with photosensitivity, reduced stability or altered function of general transcription factor (TFIIH)

PIBIDS: photosensitivity, ichthyosis, brittle hair, infertility, developmental delay, short stature
Obligatory finding in all types is short, unruly , fragile scalp/eyebrow/eyelash hair due to abnormally low Sulfur content ie. deficient cysteine or methionine
Nail changes:
Thinning, longitudinal ridging, yellow discolouration, splitting, onychogryphosis

54
Q

What are extracutaneous manifestations of Trichothiodystrophy

A 
intellectual disability
—> microcephalic
—> ataxia
—> spastic paralysis
—> brain MRI may show dysmyelination, cerebellar atrophy, dilated ventricles
55
Q

How to investigate trichothiodystrophy?

A

Light microscopy of hair shaft demonstrates transverse fractures (trichoschisis) in conjunction with irregular surface and diameter
Occasionally a nodal appearance similar to trichorrhexis nodosa or 180 degree twists as in pili torti may be observed
Polarising light microscopy is gold standard to detect “tiger tail” bands

If ichthyosis is present, histopathology similar to ichthyosis vulgaris can be seen
- Molecular testing
Hair Sulfur content can be semi quantitatively analysed by scanning electron microscopy

56
Q

How is Erythrokeratoderma Variabilis

Inherited?

A

Rare disorder predominantly autosomal dominant
Nearly complete penetrate but considerable intra and interfamilial variability
Mutations in GJB3, GJB4 and occasionally GJA1
Genes encode gap junctions connexin 31, connexin 30.3 and connexin 43

57
Q

Individual lesions of Erythrokeratoderma Variabilis

Last for days to weeks

A

False mins to hours

58
Q

Progressive symmetric erythrokeratoderma

  • inheritance
  • presentation
A

Can have GJB4 mutations like EKV
more recently, los of function mutations in KRT83 have been found

ASSESSMENT:
usually begins during infancy or early childhood with development of fixed, sharply demarcated or polycyclic hyperkeratotic plaques on an erythematous base covered by fine scale with a rough verrucous surface - especially over JOINTS
Symmetric distribution on extremities, buttocks and face
Especially on cheeks
diffuse erythematous PPK occurs in at least half

59
Q

What does KID syndrome stand for

A

keratitis, ichthyosis, deafness

60
Q

Inheritance of kid syndrome

A

most harbour mutations in GJB2
Encodes connexin 26
Autosomal dominant manner but >90% reported cases have been sporadic

61
Q

Clinical features of KID syndrome

A

Considerable variability in cutaneous features
First manifestation often transient erythroderma at birth or during infancy
Later most patients develop symmetrical, well demarcated, hyperkeratotic plaques with erythematous base and rough, ridged or verrucous surface (ie. erythrokeratoderma)
—> these favour extensor knees, elbows and face often with radial furrows around mouth

Nails can be dystrophic and show leukonychia

Hair - most have normal hair, some with alopecia of scalp/lash/brows or have lustreless hair

Other cutaneous manifestations:
- follicular occlusion triad, cysts, proliferating trichilemmal cyst, rare reports of malignant lesions

Derm 2020 (59 decks)

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