ALBINISM

Introduction of Melanin Pigment

• Melanin is synthesized by specialized group of cells

known as melanocytes from tyrosine in a membrane-
bound intracellular organelle, the melanosome.

• Melanocytes originate from the embryonic neural crest

and migrate to the skin, eyes (optic nerve, choroid
and iris), hair follicles, and inner ear.

 The melanin in the eye is confined to the retinal

pigment epithelium, whereas in skin and hair
follicles, it is secreted into the epidermis and hair
shaft.
 Introduction of Melanin Pigment
cont…
• Forms of melanin pigments include:

1. Eumelanin – Most abundant/common form with the following

types
a) Brown eumelanin – small amount causes
yellow(blond) hair in the absence of other pigments
b) Black eumelanin – small amount causes grey hair in
the absence of other pigments

2. Pheomelanin (which is a yellow-red pigment) – responsible

for the colour of hairs – concentrated in the lips, nipples,
glans of the penis, and vagina

3. Neuromelanin (NM) – is found in the brain and spinal cord

Introduction of Melanin Pigment cont…
• Melanogenesis is initiated by exposure to UV radiations
causing the skin to darken.

 Melanin is an effective absorbent of light, the pigment is able to

dissipate over 99.9% of absorbed UV radiations.

 Because of this property, melanin is thought to protect skin cells

from UVB radiation damage and malignant melanoma (a cancer
of melanocytes – melanin producing cells)

• Both pheomelanin and eumelanin are found in human

skin and hair but eumelanin is the most abundant melanin
in human, as well as the form most likely to be deficient
in albinism
 Definition of Albinism

• It is a rare congenital inherited genetic

abnormality in which melanocytes are
present but melanin production is
absent or greatly decreased in the skin,
hair, ears and/or eyes.
 Definition of Albinism cont…
 Is an inherited defect in melanin formation that
causes diffuse hypopigmentation of the skin,
hair and eyes despite the presence of normal
number, structure, and distribution of
melanocytes.

– Deficiency of melanin may be partial or total but

all areas of the skin are involved.

– Ocular involvement produces strabismus,

nystagmus and decreased vision.
 Types of Albinism
 Types of albinism are classified based on how they're
inherited and on the gene that is affected.

 Oculocutaneous albinism (OCA)

– The most common type,
– It's the result of a mutation in one of seven genes,
labeled from OCA1 to OCA7.
– OCA causes decreased pigment in the skin, hair and
eyes, as well as vision problems.
– The amount of pigment varies by type, and the resulting
color of skin, hair and eyes also varies by and within
types.
 Types of Oculocutaneous
Albinism (OCA)
1. Type I OCA:
 The most severe form
 Caused by absent of (OCA 1A; 40% of all OCA) or reduced (OCA 1B)
tyrosinase activity (tyrosinase enzyme catalyzes several steps in melanin
synthesis)
 Pathophysiology: OCA 1A is the classic tyrosinase-negative albinism
 Clinical features: Skin and hair are milky white, eyes are blue-grey and
photophobia, nystagmus and defective visual acuity are present but mild.

2. Type II OCA:
 The most common form of albinism seen worldwide
 Contribute 50% of all OCA
 Pathophysiology: Mutation of P-gene however tyrosinase activity is
present
 Clinical features: pinked eye, pigmented nevi, freckles and lentigines may
develop with sun exposure – some lentigines may become large and dark.
 Types of Oculocutaneous Albinism
(OCA) cont…

3. Type III OCA (Rufous albinism)

 Occurs only in blacks
 Pathophysiology: Mutations in a tyrosinase-related
protein 1 gene whose product is important in eumelanin
synthesis
 Clinical features: Brown skin and rufous (reddish) hairs

4. Type IV OCA
 An extremely rare form in which the genetic defect is in
a gene that codes a membrane transporter protein
 Types of Albinism cont…
 Ocular albinism

– Is mainly limited to the eyes, causing vision

problems.

– The most common form is type 1, inherited by a

gene mutation on the X chromosome.

– Ocular albinism occurs almost exclusively in

males and is much less common than OCA.
 Types of Albinism cont…
 Albinism related to rare hereditary syndromes
– For example, Hermansky-Pudlak syndrome includes
a form of OCA as well as bleeding and bruising
problems and lung and bowel diseases.

– Chediak-Higashi syndrome includes a form of OCA

as well as immune problems with recurrent
infections, neurologic abnormalities and other serious
issues.

– Griscelli syndrome occurs with albinism (but may not

affect the entire body), immune problems, and
neurological problems.
 Epidemiology
• Albinism can affect people of all races, and there are
different kinds of albinism. An estimated 1 in 70 people
carry the genes associated with albinism.

• Prevalence can change over time, in various

geographical regions of the same country, according to
prevailing cultural norms, population characteristics, and
the availability of health and support services.

• The global incidence of albinism is 1:20,000 individuals,

with a lower rate in the United States (1:37,000),
 Epidemiology cont…..
• Highest IR reported in the literature to date is amongst
the people of Panama and Colombia, who have an
estimated incidence of 6.3 per 1000 population.

• High rates have also been reported in Africa. In sub-

Saharan Africa, 1:5000 to 1:15,000 are affected by
albinism.

• In Tanzania, estimated there were 700 albinos living in

Dar es Salaam, representing a prevalence of 1:1500.
(year 2019)
 Risk Factors

• Parents with albinism

• Carriers of albinism genetic traits

• Hereditary syndromes
 Aetiology
• Albinism is caused by a mutation in one of genes that provide
instructions for making one of several proteins involved in the
production of melanin.

• Different types of albinism can occur, based mainly on which

gene mutation caused the disorder. The mutation may result in
no melanin at all or a significantly reduced amount of melanin.

• Sometimes, albinism can results from disorders of hereditary

defects of melanosomes and disorders of melanocyte
migration.
 Clinical Features
• White hair and very light-colored skin compared with
siblings
• Freckles
• Moles, with or without pigment — moles without
pigment are generally pink-colored
• Large freckle-like spots (lentigines)
• Sunburn and the inability to tan
• Eyelashes and eyebrows are often pale.
• Eye color can range from very light blue to brown and
may change with age
• Easy bruising
 Definitions
• Freckle:
 A small patch of light brown colour on the skin, often
becoming more pronounced through exposure to the sun.
• Nevus:
 Is a nonspecific medical term for a visible, circumscribed,
chronic lesion of the skin or mucosa.
• Mole:
 A pigmented spot, mark, or small permanent
protuberance on the human body
 Clinical Features cont…
• Rapid, involuntary back-and-forth movement of
the eyes (nystagmus)
• Head movements, such as bobbing or tilting the
head, to try to reduce the involuntary eye
movements and see better
• Inability of both eyes to stay directed at the
same point or to move in unison
(strabismus/squint)
• Extreme nearsightedness or farsightedness
• Sensitivity to light (photophobia)
 Clinical Features cont…
• Abnormal curvature of the front surface of the eye or
the lens inside the eye (astigmatism), which causes
blurred vision
• Abnormal development of the retina, resulting in
reduced vision
• Nerve signals from the retina to the brain that don't
follow the usual nerve pathways (misrouting of the
optic nerve)
• Poor depth perception
• Legal blindness (vision less than 20/200) or complete
blindness
 Complications of Albinism
• Sunburn
• Skin cancers
• Chronic skin infections
• Problems with vision can impact learning,
employment and the ability to drive and Blindness
• Social problems such as misconception,
kidnapping and Stigmatization/discrimination
• More susceptible to ototoxic agents such as
gentamicin
• Bleeding disorders – associated
 Differential Diagnosis of Albinism

• Universal/generalized vitiligo
• Hemophilia
• Prader-Willi and Angelman syndromes
 Diagnosis Formulation
• Diagnosis of albinism is based on:
– Review of child's medical history, including whether there
has been bleeding that doesn't stop, excessive bruising or
unexpected infections
– A physical exam that includes checking skin and hair
pigmentation (Generalized depigmented skin and hair).
– Comparison of child's pigmentation to that of other family
members
– A thorough ocular/eye examination (Visual impairment)
– Genetic consultation can help determine the type of
albinism and the inheritance
 Investigations
• Genetic testing – point mutation
• Ocular tests:
– Slit lamp exam, Ophthalmoscopy/Optometry
and electroretinogram test
• Moles(nevus and or lentigo) biopsy for
histopathology
• Bleeding indices: PT/INR
• Others: Full blood picture, ESR, Blood
culture
 Treatment
• Because albinism is a genetic disorder, it can't
be cured.

– Treatment focuses on getting proper eye

care and monitoring skin for signs of
abnormalities

• These services involves clinicians specializing in

eye care (ophthalmologist), skin care
(dermatologist) and genetics.
 Eye Care
• Use low vision aids, such as a hand-held magnifying
glass
• Wearing prescribed corrective lenses.
• Ophthalmologist may recommend surgery on
optical muscles to minimize nystagmus.
• Surgery to correct strabismus may make the
condition less noticeable.
• People with Hermansky-Pudlak or Chediak-
Higashi syndromes usually require regular
specialized care to address medical needs and
prevent complications.
 Skin Care and Prevention of Skin
Cancer
 No treatment for skin involvement is available other
than protection from sunlight.
– Patients with albinism should be counseled to avoid
ultraviolet radiation by;
 Wearing protective long-sleeved clothing
 Use of sun-glasses (with UV rays filtration)
 By using sunscreens with a Sun Protection Factor
(SPF) rating above 30.
 Strictly avoid high-risk or prolonged sun exposure
– Parents and or children should be counseled to develop
skills to deal with other people's reactions to albinism
 Follow - up

• Annual eye examination by an ophthalmologists

• Annual skin assessment to screen for skin

cancer or lesions that can lead to cancer.
– An aggressive form of skin cancer called
melanoma can appear as pink skin lesions.

• Bleeding indices: PT/CT/PTT/INR

 Prevention of Albinism

• Genetic Counseling is very important

to prevent further occurrence of the
condition.
• Creation of community awareness
about albinism.
• Early identification and treatment of
albinism related complications.