CASE STUDY

NO. 1
Presentation by: Group 3
 CASE I D E N T I F I C A T I O N
WN, a 5-year old female, born with a
noticeably whiter complexion than the
rest of the members of her family. She
has pasty and white, lighter colored hair,
and blue eyes, despite being of Filipino
heritage. Her family also noticed that no
matter how much she is exposed to the
sun, she only gets redder instead of being
darker.
 PROBLEM IDENTIFICATION
- When they decided to get her
checked at the doctor’s clinic to
find out more about her
condition, the doctors had
diagnosed her as having
albinism.
 TWO TYPES OF ALBINISM
White
hair

Fair skin Eyes

Unpigmented
Irises in the
eyes
Oculocutaneous Ocular albinism
albinism (OCA) (OA)
ORGANS/SYSTEM AFFECTED

The integumentary system

consists of the skin and
accessory structures such
as hair, glands, and nail,
with the skin being its main
and prominent organ.
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)

Main functions of the skin:

01 Protection 03 Vitamin D production

Body Temperature
02 Sensation 04
Regulation
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)
Layers of the skin:
Epidermis
- Composed of stratified squamous
epithelial cells.
- The outermost protective shield of the
body.
- Vascularized.
Dermis
- Layer below the epidermis and is composed of dense
connective tissue.
- Contains all of the skin's blood vessels and the
majority of its nerve tissue and is highly vascularized.
Hypodermis
- The subcutaneous tissue.
- Consists mostly of adipose tissue (fat).
- Site for fat storage.
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)

3 Pigments that contributes to skin color:

Epidermis
▪ Melanin
- Impact the color of a person's skin
and hair.
- Eumelanin and pheomelanin.
▪ Carotene
- Orange yellow pigment.
- Deposited in the stratum corneum
and the subcutaneous tissue.
▪ Oxygen-Rich Hemoglobin
- Pinkish hue of fair skin.
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)

Melanin
- - Sunlight induced.
- - Innate biomaterial.
- - Produced by a spider-shaped
cell shaped melanocytes which
can be found at the stratum
basale.
- - Able to synthesized through
process called melanogenesis.
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)

Melanogenesis
• - Melanocytes are accumulated within the membrane-
bounded granules called melanosomes.
• - The key enzyme involved in the synthesis of all types
of melanins from the initial precursor tyrosine is
tyrosinase.
• - It also produces the total determinant of melanin in
each melanosome and the number of melanocytes
within the epidermis.
• - As these granules are then transported to the ends of
the melanocytes’ long projections hence are taken up
by nearby keratinocytes.
• - Within the keratinocytes some melanocytes form an
umbrella shaped cap of their nuclei and shields its
genetic material or DNA.
PHYSIOLOGY(NORMAL PROCESSES & FUNCTION)
Glands found in the skin:
Sebaceous glands
‐ Primarily found close to hair follicles.
‐ Made up of specialized epidermal cells.
‐ Found in the face, neck, and upper chest.
‐ Release sebum.
Sweat glands:
Apocrine sweat glands
‐ Found in the axillary and genital areas.
‐ Secretes a milky or yellowish substance.
Eccrine sweat glands
‐ Found all over the body.
‐ Produce sweat.
HOMEOSTATIC IMBALANCE OF SKIN
Squamous cell carcinoma
- Arises from keratinocytes of stratum
spinosum.
- Appears most often on the scalp, ears,
dorsum of the hands, and lower lip.
- Believed to be sun-induced.
- If it is caught early and removed
surgically or by radiation therapy, the
chance of complete cure is good.
Epidermis
Dermis
Hypodermis
Basal cell carcinoma
- Caused by the cells of the stratum basale.
- Occur most often on sun-exposed areas
of the face.
- Also is sun-induced
- Full cure is the rule in 99 percent of cases
in which the lesion is removed surgically.
Malignant melanoma
- Caused by melanocytes.
- Can begin wherever there is pigment;
most such cancers appear spontaneously,
but some develop from pigmented
moles.
- The vast majority of melanomas are
caused by the sun.
- The chance for survival is about 50
percent, and early detection helps.
HOMEOSTATIC IMBALANCE OF SKIN

Albinism
‐ Oculocutaneous albinism(OCA)
‐ Has 4 different types:
‐ Oculocutaneous albinism type 1(OCA1)
‐ OCA1a
‐ OCA1b
‐ Oculocutaneous albinism type 2(OCA2)
‐ Oculocutaneous albinism type 3(OCA3)
‐ Oculocutaneous albinism type 4(OCA4)
‐ Ocular albinism(OA)
EXPLANATION OF WN’S CONDITION
WN’s signs of albinism appear to be seen
through her skin color, hair, and eye color,
where she has white complexion, pasty and
white, lighter colored hair, and blue eyes. As
explained earlier, these symptoms falls under
oculocutaneous albinism (OCA), specifically
under OCA1a, where there is a complete
absence of melanin. This also means that WN
have inherited two copies of parent genes
which expressed abnormalities for the disease
or trait to evolve.
REFERENCES
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● AUTHOR (YEAR). Title of the publication. Publisher
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● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
Thank
you!