Ichthyosis is a skin disorder characterized by excessive dry scales on the skin. It is caused by abnormal skin cell development or metabolism. Symptoms include severe dryness, thickened skin, and flaking which can cover large or small areas of the body. The condition is usually present at birth or appears in early childhood. It is lifelong and symptoms may worsen in dry, cold weather. Treatment focuses on moisturizing the skin and facilitating skin cell shedding through creams, lotions and medications in severe cases. The cause can be genetic mutations or acquired through other medical conditions.

1. ICHTHYOSIS
Presented by:
Dela Cruz, Beatrice, D.
Pangan, May, G.
DMD2D

2. Definition
 Ichthyosis refers to a relatively uncommon group of skin
disorders characterized by the presence of excessive
amounts of dry surface scales. It is regarded as a disorder
of keratinization or cornification, and it is due to
abnormal epidermal differentiation or metabolism.
 The skin's natural shedding process is slowed or inhibited;
and in some types, skin cells are produced too rapidly.
 The disease usually presents at birth, or within the first
year, and continues to affect the patient throughout their
lifetime.

3. Signs and Symptoms
Depending on the type of gene abnormality that causes
ichthyosis, the skin can show different patterns of
flaking. Symptoms of all genetic types of ichthyosis are
either noticeable at birth or appear during childhood.
Symptoms may include:
 Severe dryness of the skin with thickening and
flaking, which may be appear only in limited areas or may
involve almost the entire skin surface
 Mild itching of the skin
 Body odor, because the spaces under and between skin
flakes can harbor collections of bacteria or fungus
 Wax buildup in the ears, causing hearing difficulties

4. Signs and Symptoms
Symptoms are usually worse in winter months and in
dry climates, because warmth and humidity improve
these symptoms. Many people who have ichthyosis
vulgaris also have allergic problems, such as allergic
nasal congestion, asthma or eczema.
Xeroderma - occurs most often on the lower legs of
middle-aged and elderly adults during cold
weather, or on the lower legs of people who bathe
too often.

5. Pathogenesis
There are two general types:
 Inherited ichthyosis (several forms exist) - dryness
and scaling of the skin due to hereditary factors
 Acquired ichthyosis - thickening and scaling of the
skin that is not inherited but is associated with certain
medical disorders

6. INHERITED ICHTHYOSIS
Depending on the specific type of ichthyosis, the
inheritance can be:
 Autosomal recessive - the altered gene for the disease
or trait is located on one of the first 22 pairs of
chromosomes (e.g. Lamellar ichthyosis)
 Autosomal dominant - both males and females are
equally likely to have the disease but only one copy of
the altered gene is necessary to have the condition.
(e.g. Epidermolytic hyperkeratosis)
 X-linked recessive - much more prevalent in males. It is
caused by a deficiency of STS
 X-linked dominant
 Sporadic

7. ACQUIRED ICHTHYOSIS
Acquired ichthyosis is relatively rare but may be caused by
any of the following:
 Leprosy (extremely rare in the US)
 Hypothyroidism
 Lymphoma ( Hodgkin’s Lymphoma , Adult Non-Hodgkin's
Lymphoma
 Sarcoidosis
 HIV and AIDS
 A few rare cases of acquired have been attributed to the
use of certain drugs: specifically
cimetidine, triparanol, dixyrazine, nicotinic acid, and
clofazimine
In these cases chthyosis is most noticeable on the patient's

9. Diagnosis and Treatment
A dermatologist will often make the diagnosis of
ichthyosis based on findings from:
 Skin biopsy or DNA study (from a small blood
sample)
 Prenatal testing (e.g chorionic villus sampling or
amniocentesis)
 Since there is no cure for ichthyosis, treatment
consists of managing the symptoms. Most
treatment is aimed at restoring the skin's moisture
and facilitating more aggressive shedding of dead
skin cells.

10. Diagnosis and Treatment
Many types of moisturizing ointments, lotions, and
creams are used to lessen or alleviate symptoms of
ichthyosis. These include petroleum jelly, mineral
oil, creams, lotions, and ointments containing vitamin
A. For ichthyosis that causes scaling solutions or
creams with lactic or salicylic acid or urea may help.
In severe cases, drugs are sometimes
prescribed, including:
 Etretinate and isotretinoin -These medications are
retinoids, which are derivatives of vitamin A; excess
amounts of vitamin A can be harmful.
 Antibiotics (if the skin becomes infected)
 Disinfecting soaps (e.g. chlorhexidine)