Genetics of Skin Color Flashcards

1
Q

Skin color is a combination of ___, ___ __, ___ tissue, and ___

A

Keratin, blood vessels, adipose, pigment

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2
Q

____ is when babies feet are blue right after birth

A

Acrocyanosis

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3
Q

Twins can also have blood supply not evening distributed and one looks much more red called ____ due to ____. Or they don’t get enough blood and appear pale or ____ due to anemia

A

Plethora
Polycythemia
Pallor

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4
Q

____ affects your hemoglobins ability to retain oxygen and changed skin color

A

Methemoglobinemia

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5
Q

___ ___ is shown with a grey/blue tongue

A

Central cyanosis

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6
Q

____ creat and distribute pigment. These cells appear to have almost a halos around them. ____ and ___ ___ hold onto the pigment

A

Melanocytes
Keratinocytes
Hair follicles

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7
Q

___ ___ are the cells that the melanocytes contact and deliver pigment to, usually 30 to 40 keratinocytes

A

Epidermic melanounis

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8
Q

Melanocytes are derived from the ___ ___ cells and migrate to the skin, eye, and heart.

A

Neural crest

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9
Q

Pigment production in melanocytes:
Golgi creates ____ enzyme and ____ where melanin is synthesized, stored, and transported. Tyrosine gets converted to by tyrosinase to ___ which gets made into polymers. These polymers turn into different types of melanin.

A

Tyrosinase
Melanosomes
DOPA

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10
Q

____ is black and ____ is more yellow or red. Humans have both kinds. They both function to protect DNA from UV radiation

A

Eumelanin
Pheomelanin

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11
Q

Melanin protects cells by interfering with ___ ___ production. They also interfere with physical ____ DNA damage

A

Free radical
Chemical

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12
Q

Picture of melanin hats:

A
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13
Q

Normal skin variants related to pigment:

A
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14
Q

Melanonychia striata:
Normal skin changes, multiple nails, but could have Pathologic entities that look similar

A
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15
Q

____ ____: autosomal recessive, inability to produce melanin. Increases risk of sunburn and skin cancer.

A

Oculocutaneous albinism

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16
Q

Darker skin blocks more ___ ___ and depends on global location. Where UV radiation is low, it’s advantageous to allow more UV to reach the skin to allow more ___ __ production. Where UV radiation is high, block UV to the skin to prevent ___ ___ and __ ___.

A

UV radiation
Vitamin D
Folate destruction
Skin cancer

17
Q

Skin color is a ___ ___. Over 20 genes have been associated with variation in skin color.

A

Polygenic trait

18
Q

Most of the genetic variation in human skin tone is non-coding or ___ rather than changes that affect protein sequence. A few polymorphisms do affect protein sequence.

A

Synonymous

19
Q

Absent pigment due to auto antibodies attacking melanocytes

A

Vitiligo

20
Q

Vitiligo diagnosis:
___ ___ is a type of UV light to detect depigmented areas of the skin, appear fluorescent. The lesions ___ ___, important distinguishing feature. Often time family history as well. Hair can be affected too.

A

Woods lamp
Lack scale

21
Q

There was a prior ____ and after resolution there is now less pigment. Generally ___ defined lesions.

A

Inflammation
Poorly

22
Q

Type of post inflammatory hypopigmentation. Involves face, upper body. Usually in younger children with darker skin. Asymptomatic. Poorly defined. Not caused by topical steroid use.

A

Pityriasis alba

23
Q

Hypopigmented on lighter skin. The lesions do have scale. Shimmery feature. It likes moist areas.

A

Tinea versicolor

24
Q

Tinea versicolor has ___ ___ lesions especially at the edges. They are rounded and oval

A

Fine scale

25
Q

Tinea versicolor key features:
Multiple macules with fine powdery scale. Appears on upper arms, back, upper chest, and sometimes face. KOH scraping with “spaghetti and meatballs”

A
26
Q

Inappropriately Increased melanogenesis. Gets worse in the sun.

A

Post-inflammatory hyperpigmentation

27
Q
A

Melasma

28
Q
A

Review