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MRCPCH Clinicals > Dermatology > Flashcards

Dermatology Flashcards

1
Q

What is aplasia cutis congenita?

A

Isolated defect where a portion of skin is missing

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2
Q

Where does aplasia cutis congenita most frequently occur?

A

Posterior scalp

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3
Q

Which conditions is aplasia cutis congenita associated with?

A 
Epidermolysis bullosa
Limb defects
Spinal dysraphism
T13
Goltz syndrome
Adams-Oliver syndrome
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4
Q

What are the features of Kasabach-Merritt syndrome?

A

Thrombocytopenia
Rapidly enlarging haemangioma
Microangiopathic haemolytic anaemia
Localised consumption coagulopathy

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5
Q

What are the features of PHACES syndrome?

A

Posterior fossa defects
Haemangiomas (usually large facial ones)
Arterial anomalies
Cardiac defects and coarctation of the aorta
Eye anomalies
Sternal clefting and/or supraumbilical raphe

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6
Q

What are the three broad types of epidermolysis bulls?

A

EB simplex
Junctional EB
Dystrophic EB

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7
Q

How is EB simplex inherited?

A

Autosomal dominant (mainly)

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8
Q

What is the defect in EB simplex?

A

Defect in basal layer of epidermis, affecting keratins 5-14

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9
Q

How does EB simplex present?

A

Blisters at friction sites, often when child starts to crawl or walk
Hair, teeth and nails not affected

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10
Q

How is junctional EB inherited?

A

Autosomal recessive?

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11
Q

How serious is junctional EB?

A

There are Lethal and non-lethal variants

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12
Q

What is the defect in junctional EB?

A

Laminin-5

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13
Q

What are the features of junctional EB?

A

Mucous membranes can be severely affected
Teeth often abnormal
Raw, denuded areas show little tendency to heal
Hoarseness as a result of laryngeal involvement

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14
Q

How is dystrophic EB inherited?

A

Autosomal dominant or recessive

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15
Q

What is the defect in dystrophic EB?

A

Collagen VII

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16
Q

What are the features of dystrophic EB?

A

Subepidermal blister
Lesions heal with scarring
Hair and teeth are normal in dominant form
Mucous membranes, nailed, hair and teeth may all be abnormal in recessive form
Web formation between digits leads to a useless fist

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17
Q

What is one of the possible sequelae of dystrophic EB?

A

Squamous carcinoma

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18
Q

When does chronic bullous dermatosis of childhood usually present?

A

> 3 years, mean age 5 years

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19
Q

How does chronic bullous dermatosis of childhood present?

A

Tense blisters like a string of pearls, usually on abdomen and buttocks
Can present as genital blisters/erosions
40% have mucous membrane involvement
Clears after 3 years

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20
Q

Which antibody is positive in chronic bullous dermatosis of childhood?

A

Linear basement membrane IgA

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21
Q

When does dermatitis herpetiformis usually present?

A

Mean age 7 years

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22
Q

How does dermatitis herpetiformis present?

A

Buttocks, elbows, back of neck and scalp
Itchy
15% resolve spontaneously
Skin changes can persist up to 18 months after starting gluten free diet

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23
Q

Which antibody will be positive in dermatitis herpetiformis?

A

IgA in papillary dermis

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24
Q

How does epidermolysis bullosa acquisita present?

A

Mechanobullous picture with blisters localised to areas of traum

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25
Q

What is the prognosis for epidermolysis bullosa acquisita?

A

Remits in 2-4 years

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26
Q

Which antibody will be positive in epidermolysis bullosa acquisita?

A

Linear basement membrane IgG

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27
Q

What are the features of pemphigus?

A

Flaccid blisters
Nikolsky sign positive
Mucous membrane involvement in vulgaris type with stomatitis

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28
Q

What is the Nikolsky sign?

A

Blister induced by rubbing normal appearing skin

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29
Q

Which antibody will be positive in pemphigus?

A

Intercellular IgG

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30
Q

What are the dermatological features of PKU?

A

Decreased pigmentation: fair hair, lightly pigmented eyes

Eczema

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31
Q

How is xeroderma pigmentosum inherited?

A

Autosomal recessive

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32
Q

What is the defect in xeroderma pigmentosum?

A

DNA repair defect

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33
Q

What are the clinical features of xeroderma pigmentosum?

A 
Extreme photosensitivity
Severe ophthalmological abnormalities
Skin malignancies in childhood
Neurological complications in 20%
Freckling
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34
Q

How is Cockayne syndrome inherited?

A

Autosomal recessive

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35
Q

What is the basic problem in Cockayne syndrome?

A

Cells have increased sensitivity to UV light

36
Q

When does Cockayne syndrome present?

A

2nd year of life

37
Q

What are the clinical features of Cockayne syndrome?

A 
Progressive neurological degeneration and growth failure
Sensorineural hearing loss
Skeletal abnormalities
Dental caries
Pigmentary retinopathy
Cataracts
38
Q

How is trichothiodystrophy inherited?

A

Autosomal recessive

39
Q

What are the features of trichothiodystrophy?

A 
Photosensitivity
Ichthyosis
Brittle, low sulphur hair
Intellectual impairment
Decreased fertility
Short stature
40
Q

How is Rothmund-Thomson syndrome inherited?

A

Autosomal recessive

41
Q

What are the features of Rothmund-Thomson syndrome?

A 
Poikiloderma (atrophic pigmented telangiectasia) by end of 1st year
Sparse hair
Skeletal dysplasia
Short stature
Cataracts
Hypogonadism
Hypotrophic nails
Increased risk of osteosarcoma and skin malignancy
42
Q

How is Bloom syndrome inherited?

A

Autosomal recessive

43
Q

What are the features of Bloom syndrome?

A 
Growth retardation
Immunodeficiency (IgA and IgM)
Telangiectasia
Pigmentary abnormalities
Malignancies in 3rd decade (leukaemia, lymphoma)
44
Q

How is Hartnup disease inherited?

A

Autosomal recessive

45
Q

What is the defect in Hartnup disease?

A

Impaired amino acid transport in kidneys and small intestine

46
Q

What are the symptoms of Hartnup disease?

A 
Can be asymptomatic
Photosensitivity with pellagra-like appearance
Can form blisters
Intermittent cerebellar ataxia
Psychotic behaviour
Mild learning disability
47
Q

What are the porphyria?

A

Group of disorders leading to accumulation of haem precursors

48
Q

What skin problems are elevated porphyrins associated with?

A

Acute photosensitivity or skin fragility with vesiculobullous and erosive lesions

49
Q

What is the most common porphyria in children?

A

Erythropoietic protoporphyria

50
Q

How is Erythropoietic protoporphyria inherited?

A

Usually autosomal dominan

51
Q

What are the features of Erythropoietic protoporphyria?

A

Small pitted scars on nose and cheeks
Burning/stinging in exposed skin
Photosensitivity less severe in adult life
Gallstones in childhood

52
Q

What test results will be seen. in Erythropoietic protoporphyria?

A

Excess protoporphyrins in red cells and faeces; urine normal

53
Q

How is congenital erythropoietic porphyria inherited?

A

Autosomal recessive

54
Q

When does congenital erythropoietic porphyria present?

A

Shortly after birth

55
Q

What are the features of congenital erythropoietic porphyria?

A 
Acute episodes become less severe with time, leaving scarring, ulceration and deformity
Sclerodactyly
Loss of terminal phalanges
Severe photosensitivity
Red staining of nappy
Haemolytic anaemia and splenomegaly
Hypertrichosis
Teeth and bones may be red
56
Q

What causes porphyria cutanea tarda?

A

Familial or provoked by drugs, alcohol, or infection

57
Q

What are the features of porphyria cutanea tarda?

A 
Skin fragility leading to vesicles/blisters and erosions
Hypertrichosis
Yellow/blue nails and onycholysis
Anorexia
constipation, diarrhoea
Dark brown urine
58
Q

What are ichthyoses?

A

Disorders of keratinisation, characterised by excessively dry and visibly scaly skin

59
Q

How is Sjogren-Larsson syndrome inherited?

A

Autosomal recessive

60
Q

What are the features of Sjogren-Larsson syndrome?

A

Spastic diplegia or tetraplegia
Learning disability
Ichthyosis
Onset of neurological signs at 4-13 months of age

61
Q

What is the defect in Sjogren-Larsson syndrome?

A

Fatty alcohol oxidation defect in fibroblasts

62
Q

How is Refsum disease inherited?

A

Autosomal recessive

63
Q

What is the defect in Refsum disease?

A

Phytanic acid oxidase defect

64
Q

What are the features of Refsum disease?

A 
Retinitis pigmentosa
Peripheral neuropathy
Anosma
Sensorineural deafness
Variable ichthyosis: vulgars-type appearance with fine, light scaling
65
Q

What is associated steroid sulphatase deficiency?

A

X-linked recessive ichthyosis

66
Q

What can associated steroid sulphatase deficiency be associated with?

A 
Kallmann syndrome
Pyloric stenosis
Chondroplasia punctata
Hypogonadism
Learning disability
67
Q

How is multiple sulphatase deficiency inherited?

A

Autosomal recessive

68
Q

What is the defect in multiple sulphatase deficiency?

A

Lack of arylsulphatase A, B and steroid sulphatase

69
Q

What are the features of multiple sulphatase deficiency?

A 
Ichthyosis
Neurodegenerative disease
Coarse facies
Hepatosplenomegaly
Lumbar kyphosis
70
Q

How is Netherton syndrome inherited?

A

Autosomal recessive

71
Q

What are the features of Netherton syndrome?

A 
Neonatal erythroderma
Ichthyosis liners circumflex
Atopy
Faltering growth
Recurrent infections
Trichorrhosis invaginata
72
Q

How is Happle syndrome inherited?

A

X-linked dominant

73
Q

What are the features of Happle syndrome?

A 
Chondroplasia punctata
Cicatricial alopecia
Cataracts
Short stature
Follicular atrophoderma
74
Q

What are the features of KID syndrome?

A

Keratitis
Ichthyosis
Deafness

75
Q

How is KID syndrome inherited?

A

Unclear

76
Q

How is Chanarin-Dorfman syndrome inherited?

A

Autosomal recessive

77
Q

What is the defect in Chanarin-Dorfman syndrome?

A

Neutral-lipid storage disease

78
Q

What are the features of Chanarin-Dorfman syndrome?

A

Variable neurological and ocular involvement
Multiple lipid vacuoles in monocytes and granulocytes
Ichthyosis

79
Q

What are the features of CHILD syndrome?

A

Congenital hemidysplasia
Ichthyosiform erythroderma
Limb defects

80
Q

How is Chediak-Higashi syndrome inherited?

A

Autosomal recessive

81
Q

What are the features of Chediak-Higashi syndrome?

A

Incomplete oculocutaneous albinism
Photophobia
Severe recurrent infections

82
Q

What are the dermatological features of Niemann-Pick type A?

A

Grey-brown/yellow-brown discolouration of sun exposed areas

83
Q

What is koilonychia a sign of?

A

Iron deficiency anaemia

84
Q

What is leukonychia a sign of?

A

Liver disease
Hypoalbuminaemia
Hereditary
If punctate, can follow minor trauma

85
Q

How is nail-patella syndrome inherited?

A

Autosomal dominant

86
Q

What are the features of nail-patella syndrome?

A 
Nail hypoplasia
Patella hypoplastic or absent
Radial head abnormalities
Iliac crest exostosis
Nephropathy

MRCPCH Clinicals (17 decks)

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