this is a rare condition of total loss of melanin content in body , but also this is observed now a days more often so , it is necessary to know about this condition , this study gives a clear idea of albinism please comment thank you..

1. PREPARED BY
MARTIN SHAJI
PHARM D
Albinism (autosomal
recessive)
a brief medical study

2. It is an inborn error of metabolism, due to defect in tyrosinase
enzyme, So melanin, the pigment giving eye, hair and skin color,
is not available.
Definition | introduction
A group of inherited disorders characterized by little or no
melanin production.
This condition increases the risk of skin cancer.
Most people with albinism have pale skin, eye conditions and are
sensitive to the sun.
No cure exists, but skin can be protected and eye conditions can
be treated.

3. Chediak Higashi Syndrome (CHS)
autosomal recessive
Synonyms names
-Begnez-Cesar's Syndrome
-Chediak-Steinbrinck-Higashi Syndrome
-Leukocytic Anomaly Albinism
-Natural Killer Lymphocytes defect
-Oculocutaneous Albinism ,Chediak-Higashi Type
is a rare, inherited, complex, immune disorder that usually occurs in
childhood.

4. Incidence.
one in 200,000 people

5. Signs & Symptoms
*reduced pigment in the skin and eyes (oculocutaneous albinism) -
Hair is typically blond or light brown with a silvery tint - abnormally
sensitive to light (photosensitivity) -rapid, involuntary, eye
movements (nystagmus) .
*immune deficiency with an increased susceptibility to infections -
white blood cells contain abnormal granules that are markedly
enlarged under microscope ( diagnostic ) - Children are susceptible to
frequent bacterial, viral, and fungal infections, particularly of the skin
and respiratory tract - abnormally low levels of white blood cells.

6. *Platelet numbers are usually normal, but the platelets do not
function properly causing easy bruising or prolonged bleeding.
*Neurological symptoms occur in early adulthood. include an
unsteady posture and walk (ataxia) and loss of sensation in the
arms and legs (peripheral neuropathy).

7. N.B accelerated phase occurs in up to 85% of patients and can occur
at any age.
The accelerated phase caused by an excess production of
lymphocytes by the immune system. Patients can develop fever,
swollen lymph nodes, enlargement of the liver and spleen, anemia,
low WBC count, and low blood platelet count.

8. Diagnosis
‘giant granules’ in microscopic analysis of white blood cells.

9. CHARACTERISTICS
*Skin:. very fair skin , burns very readily in sunlight.
-Eyebrows, eyelashes and other body hair is also white.
*Eyes:. -iris is a very pale pink or blue
-photophobia (dislike of light) is common
-Abnormalities in visual pathway
-Nystagmus (rapid backwards and forwards movement of the eyes) can be
present
-Squints can also be present.

10. MANAGEMENT
-Skin:.
Cover-up clothes are essential at all times and adequate sunscreen creams are
also advisable.
-Eyes:.
vision must be checked on a regular basis and corrective lenses prescribed as far
as possible.
It is frequently not possible to obtain perfect vision.
Dark glasses are often necessary to protect the eyes from light due to the lack of
protective pigment in the iris.
Squints, when present, should be corrected orthoptically or surgically.

11. -Education:.
about 20% of albino children will need special educational facilities due
to their visual problems.

12. - treatment of bacterial, fungal, or viral infections when occur.
- Platelet transfusions may be necessary if bleeding becomes
excessive after injury or surgery
- Bone marrow transplantation:
corrects the immune and bleeding abnormalities and prevents the
development of the accelerated phase.
N.B. If the accelerated phase occurs, patients are given chemotherapy
to get the accelerated phase into remission first , then can do bone
marrow transplantation.

13. Thank you
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