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MSS > Skin DEVO and associated Dz > Flashcards

Skin DEVO and associated Dz Flashcards

1
Q

epidermis and epidermal derivatives originate from…

A

surface ectoderm

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2
Q

melanocytes and merkel cells are derived from….

A

neural crest

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3
Q

what type of signaling is essential in skin devo?

A

ectoderm-mesenchyme

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4
Q

piebaldism is d/t…

A

absence of melanocytes, d/t mut in KIT proto-oncogene

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5
Q

Dermis is derived from…

A

regional mesenchyme

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6
Q

port-wine stains in the V1 dermatome from sturge-weber syndrome are associated with what two things?

A

glaucoma and seizures

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7
Q

term for sloughed off periderm cells and sebum?

A

vernix caseosa

  • protective
  • facilitates childbirth d/t lubricating nature
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8
Q

nails are derived from…

A

epidermal thickenings at the tips of digits

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9
Q

describe the epidermis in weeks 4-8

A

2 layers:

  • periderm
  • basal layer
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10
Q

describe the epidermis in week 11

A

3 layers:

  • mitosis from basal layer –> intermediate layer
  • embryo is now surrounded by amnion, which is becoming more complex
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11
Q

describe the epidermis at 11-21 wks

A

definitive skin layers (granulosum, spinosum, etc.)

  • epidermal ridges extend into the forming dermis
  • sebaceous glands excrete vernix caseosa
  • kidneys are functioning, causing amniotic fluid to be more caustic
  • langerhans, merkels, and melanocytes present
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12
Q

is piebaldism progressive?

A

no

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13
Q

describe the presentation of piebaldism

A

congenital depigmented patches, often with speckles within
stable, non-progressive
white forelock
do not expand, just grow with child

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14
Q

Waardenburg syndrome is d/t…

A

multiple gene mut&raquo_space; abn devo of melanocytes

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15
Q

what is the inheritance pattern of waardenburg syndrome?

A

AD, rare

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16
Q

List the 4 common features of Waardenburg syndrome

A

Achromia
Deafness
Heterochromia irides
Dystopia canthorum (wide distance between eyes, not pupils)

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17
Q

how do dermal vascular plexuses form?

A

angiogenesis from nearby vessels

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18
Q

term for a capillary malformation present at birth that darkens and thickens over time

A

port wine stain

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19
Q

if a port-wine stain is present in the V1 dermatome, where might it extend?

A

ocular conjunctiva

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20
Q

if a port-wine stain is present in the V3 dermatome, where might it extend?

A

oral mucosa

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21
Q

what is the most common vascular tumor/birthmark?

A

infantile hemangioma

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22
Q

describe the growth cycle of infantile hemangiomas:

A

birth - appear as a white flat patch with find pink-red vessels
3-9 mos. - growth phase
Then slow involution, and resolution with residual textural changes and telangiectasia)

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23
Q

what does PHACE stand for?

A 
Posterior fossa abnormalities
Hemangioma
Arterial anomalies
Cardiac anomalies
Eye anomalies
Sternal clefting/supraumbilical raphe (midline fusion defects)
24
Q

what type of secretion from eccrine glands?

A

merocrine

25
Q

a set of >150 rare syndromes d/t alterations in 2+ structures derived from embryonic ectoderm

A

ectodermal dysplasias

26
Q

what is the inheritance pattern of hypohydrotic ectodermal dysplasia

A

XR

  • EA1 mut
  • EA1R mut
  • EAR associated death domain mut
27
Q

pt presents with impaired ability to sweat, and overheating…

A

hypohydrotic ectodermal dysplasia

28
Q

how do you care for a patient with hypohydrotic ectodermal dysplasia?

A

avoid overheating, consult dentistry (peg teeth), recommend support groups

29
Q

the dermis-forming mesenchyme on the ventrolateral body is derived from…

A

somatic mesoderm

30
Q

the dermis-forming mesenchyme on the dorsum of the body is derived from….

A

dermatomes

31
Q

describe the epidermis at week 21

A

periderm and stratum corneum coexist; periderm disappears before birth

32
Q

origin of sebaceous glands?

A

buds from epithelial root sheath of hair follicle

33
Q

origin of eccrine sweat glands?

A

epidermal placode that becomes a bud which extends into the dermis

34
Q

structure of sebaceous glands?

A

branched

35
Q

structure of eccrine sweat glands?

A

buds elongate and coil

36
Q

length of sebaceous duct?

A

short

37
Q

length of eccrine sweat gland duct?

A

long

38
Q

when do eccrine sweat glands begin to function?

A

shortly after birth

39
Q

when do apocrine sweat glands begin to secrete?

A

after puberty

40
Q

when does hair begin to form?

A

early fetal period

41
Q

when do nails begin to form? finish?

A

wk 10/14 (UL/LL), finished at 32/36 wks

42
Q

describe the steps of hair formation

A 
placode >
proliferation  > 
bud > extends into dermis >
distal end expands to form hair bulb > 
extension of dermis into base of bulb form dermal papilla
43
Q

by examining the fingernails of a newborn, how could you determine if this infant is premature?

A

nails have not reached tips of digits

44
Q

how are hair and skin pigmented?

A

wk 6-7 melanoblasts appear in forming dermis, migrate to epidermal-dermal border (and hair follicles) where they differentiate into melanocytes
- melanin granules are transfered to cells in base of epidermis just before birth

45
Q

what is the precursor of errector pili muscles?

A

dermal mesenchyme adjacent to the forming hair follicle

46
Q

what would you suspect if you delivered a baby with gray hair?

A

Albinism (AR trait)

47
Q

albinism is d/t

A

lack of tyrosinase

48
Q

what are the general characteristics and probable causes of ICHTHYOSIS

A

group of skin disorders d/t excess keratinization

- skin is dry and scaly

49
Q

what are the general characteristics and probable causes of LAMELLAR ICHTHYOSIS

A

infants have skin composed of large plate-like scales

  • cornified layer is unable to shed properly
  • d/t defect in transglutaminase 1 gene
50
Q

what are the general characteristics and probable causes of COLLODIN BABY

A

a form of ichthyosis

  • infant covered in thick, taut membrane of keratin (wrapped in parchment)
  • eventually membrane cracks and sloughs in sheets (weeks)
  • exposed skin may be normal
51
Q

what are the general characteristics and probable causes of HARLEQUIN ICHTHYOSIS

A

most severe ichthyosis

  • massive armor-like plaques
  • cracks appear after birth (infection, dehydration, etc.)
  • cannot open eyes/mouth > trouble breathing
  • most infants die w/in a couple weeks after birth
  • now treated with isotretinoin with increased survival
52
Q

what are the general characteristics and probable causes of CONGENITAL ALOPECIA

A

absence or loss of scalp hair

  • d/t failure of hair follicles to develop (or production of poor-quality hair)
  • may be associated with other skin anomalies
53
Q

what are the general characteristics and probable causes of HEMANGIOMA

A

tumor of endothelial cells

  • rubbery, red-purple, raised
  • face, scalp, neck
54
Q

what are the general characteristics and probable causes of CAPILLARY MALFORMATION

A

flat lesions of dilated capillaries in superficial dermis

  • aka port wine stain/birthmarks
  • associated with increased levels of VEGF and VEGF-R2
  • persist through life and grow proportionately
55
Q

what are the general characteristics and probable causes of OCULAR ALBINISM

A
  • albinism of eyes

- XR

56
Q

what are the general characteristics and probable causes of OCULOCUTANEOUS ALBINISM

A

group of inherited disorders w/ absent pigmentation in skin, hair and iris

  • d/t genetic defect in tyrosine
  • defining characteristic is presence of vision problems d/t abn retinal devo and optic nerve abnormalities
57
Q

what are the general characteristics and probable causes of CONGENITAL ECTODERMAL DYSPLASIA

A

heterogeneous group of inherited (XR) disorders that have primary defects in 2+ tissues derived from epidermis or oral ectoderm
- hair, eccrine glands, teeth and nails

MSS (7 decks)

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