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

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Ichthyosis

  • 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)