Dermatology: Embryology Flashcards

1
Q

What does the epidermis originate from?

A

Ectoderm - single layered epithelium

Ectoderm proliferates to form layer of surface epithelium called periderm

Periderm covers the developing epidermis until cornified cell layer is formed

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2
Q

Label this image

A
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3
Q

When does the epidermis stratify?

Then what happens?

A

At approximatey 8 weeks EGA

Cornification (‘dead’ keratinocytes held together by proteins & lipids) until about 19 weeks EGA

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4
Q

What occurs at 19 weeks EGA?

A

Keratinisation - skin becomes impermable

Prior to 19 weeks - fetal skin highly permeable & amniotic fluid volume mostly determined by fetal surface area

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5
Q

What is the vernix caseosa?

A

Greasy coat; protects skin from amniotic fluid in utero

When differentiation completes, periderm detatches from epidermis and remnants form the vernix caseosa

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6
Q

When does the skin acquire full barrier function?

A

A few weeks after birth

Epidermis is more similar to adult skin from around mid 3rd trimester

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7
Q

How do melanocytes develop?

A

Develop from ectoderm

Migrate from neural tube to epidermis

Active melanocytes are present throughout dermis during embryonic development and most migrate to the epidermis or undergo apoptosis by birth

Melanocytes are not fully functional until 2nd trimester

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8
Q

How does congenital dermal melanocytosis develop?

A

When melanocytes fail to reach epidermis and are trapped in dermis at time of birth

Slowly resolves spontaneously with time

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9
Q

What is cutaneous mosaicism?

A

2 or more genetically different populations of cells exist side by side in skin

Typical patterns: V shaped (upper spine), S shaped (abdomen), linear (arms/legs), spiral (scalp), vertical (midface)

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10
Q

What are Blaschko’s lines?

A

A manifestation of cutaneous mosaicism

A distribution pattern often followed by skin conditions that result from genetic abnormalities in the epidermis and/or its appendages.

The pattern represents migration pathways of epidermal cells during embryonic development

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11
Q

What are these 4 patterns of cutaneous mosaicism? (with examples)

A

A - narrow bands of Blaschko

  • incontinentia pigmenti,
  • epithelial naevi e.g. inflammatory linear verrucous epidermal naevus
  • hypomelanosis of Ito

B - large bands of Blaschko

-McCune-Albright syndrome

C - chequerboard pattern

  • Becker naevus
  • vascular malformation (Port wine stain)

D - Phylloid pattern

  • Mosaic trisomy 13
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12
Q

What is an epidermal naevus?

A

Defect in ectoderm –> overgrowth of epidermal keratinocytes

Presents at birth (50%) or in early infancy: localised, linear, warty, hyperpigmented plaque

2 types: linear (majority) and systematised

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13
Q

What is hypomelanosis of Ito?

A

Naevoid hypopigmentation - hypopigmented streaks that follow Blaschko’s lines

Part of rare neurogenetic cutaneous syndrome due to defect in NEMO gene.

Typically presents in newborn with blisters that also follow Blaschko’s lines. Blisters then resolve and reveal hyperkeratotic, warty plaques, followed by increasing pigmentation at 2-6 months

Hyperpigmented brown streaks later fade into atrophic hypopigmented streaks in later childhood.

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14
Q

What is a sebaceous naevus?

A

Genetic: overgrowth of entire skin component (epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue).

Typically brown/orange hairless patch on scalp which becomes warty during puberty. Small risk of tumour in later life. Surgery recommended late adolesence.

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15
Q

What is aplasia cutis?

A

TBC

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16
Q

What is meant by ‘collodion baby’?

A

Born encased in taut, shiny, transparent membrane - formed by aberrant stratum corneum

Caused by global abnormal epidermal differentiation / barrier formation

Membrane shed over first 2-3 weeks of life
In majority, shedding will reveal ichythyosis (genetic cornification disorder –> persistent dry and scaly skin).

17
Q

What is inflammatory linear verrucous epidermal naevus (ILVEN)?

A

Defect in ectoderm - overgrowth of epidermal keratinocytes - tends to follow Blaschko’s lines (like other types of epidermal naevus).

Warty / inflammed / itchy.

18
Q

What is McCune-Albright syndrome?

A

TBC

19
Q

What is incontinentia pigmenti?

A

TBC

20
Q

What does the dermis originate from?

A

Depends on body site

Face & anterior scalp = neural crest ectoderm
Extremities & trunk = mesoderm

21
Q

How does the dermis develop?

A

Dermal fibroblasts develop under the epidermis by 6-8 weeks EGA
These synthesise collagens and microfibrillar components

By 12-15 weeks, distinction between papillary dermis and reticular dermis

By end of 2nd trimester: dermis shifts from non scarring to scarring form of wound repair.

22
Q

What does the dermal-epidermal junction (DEJ) do ?

A

Provides adhesion between the basal keratinocytes and the dermis as well as resistance against shearing forces on the skin

Rete pegs ensure attachment of the dermis to the epidermis via the basement membrane (the multilayered structure forming the DEJ).

Mutation in the genes that encode the components of the DEJ can result in skin fragility and blister formation.

23
Q

What is epidermolysis bullosa?

A

Group of genetic disorders - mutation in genes encoding molecules in the DEJ.

Blisters on skin and mucous membranes, often at sites of friction and minor trauma e.g. hands/feet. Symptomatic treatment, to protect skin/prevent secondary infection/deformity.

24
Q

What is an infantile haemangioma?

A

“Strawberry birthmark”

Proliferation of endothelial cells and mutations in genes that encode for VEGF (and other pathways affecting vascular development).

Usually present shortly after birth (where as vascular malformations usually present at birth).

Common in head/neck, usually proliferate in first 6-9 months. Then spontaneous involution over several years.

Treatment should be considered for lesions which are large with potential for disfigurement, ulcerating, threatening vital function e.g. vision/hearing/breathing/feeding or high-output cardiac failure.

Steroids were mainstay but now oral propranolol (non-selective beta blocker) is treatment of choice for complicated lesions.

25
Q

How is infantile haemangioma managed?

A

Usually active non-intervention

Treatment should be considered for lesions which are large with potential for disfigurement, ulcerating, threatening vital function e.g. vision/hearing/breathing/feeding or high-output cardiac failure.

Steroids were mainstay but now oral propranolol (non-selective beta blocker) is treatment of choice for complicated lesions.
?inhibits angiogenesis + recruitment of endothelial progenitor cells
?induces apoptosis

Topical beta blocker eye drops applied directly also effective

26
Q

What causes the neurocutaneous syndromes TS, neurofibromatosis and Sturge-Webber syndrome?

A

Genetic mutations causing defects in neural crest (genes in formation and migration of neural crest cells)

27
Q

What is tuberous sclerosis?

A
Autosomal dominant (50% have new mutations!)
Multisystem disease caused by inactivating mutations in TSC1 and TSC2 - dysregulated mTOR activity

Neurological e.g. seizures, cognitive impairment plus:

  • ash leaf or hypopigmented patches
  • adenoma sebaceum (small red or yellow papules on face, esp. perinasal)
  • fibromatous nodules (nodules on forehead and scalp)
  • periungal fibromas
  • shagreen patches (orange-peel like skin)
28
Q

What is neurofibromatosis?

A

Autosomal dominant

Bony and/or neurological plus:

  • cafe-au-lait spots (round or oval coffee coloured macules)
  • dermal neurofibromas (small nodules)
29
Q

What is Sturge-Weber syndrome?

A

Autosomal dominant

Neuro and/or eye problems, plus:

  • port wine stain (capillary vascular malformation affecting trigeminal nerve area) on eye or forehead
30
Q

What are mTOR inhibitors?

A

mTOR = mammalian target of rapamycin

Hyperactive mTOR = unchecked cell growth, proliferation, metabolism, angiogenesis –> tumour growth which may affect many organs

mTOR inhibitors e.g. serolimus now being used as target therapy for tuberous sclerosis complex, subependymal giant cell astrocytomas (SEGAs) and renal equivalent - angiomyolipoma

31
Q

What are skin appendanges?

How do they develop?

A

Hair, nails, eccrine, apocrine and sebaceous glands

Begins during 1st trimester, matures in 2nd trimester

Epidermis conveys signals to dermis to initiate appendage formation.

Abnormalities in epidermal development and associated signalling pathways can result in appendage abnormalities