Ichthyosis : Symptoms, Causes, Diagnosis and Management

Ichthyosis : Symptoms, Causes, Diagnosis and Management

Ichthyosis is a generalized, mostly genetic disorder of the skin. All types of ichthyosis have dry, thickened, scaly or flaky skin. There is no cure, but symptoms are usually mild and manageable with a daily skin care routine. The severity of symptoms can vary extremely, from the mildest types such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life-threatening conditions such as harlequin type ichthyosis. The most common type of ichthyosis is ichthyosis vulgaris, accounting for more than 95% of cases.

 

Symptoms

The symptoms specific to each type of inherited ichthyosis are given below:

Ichthyosis vulgaris

  • The skin here appear normal during birth
  • It usually begins gradually before the age of one and is characterized by dry, rough and scaly skin
  • Elbows, knees and the face are not usually affected
  • Limbs may develop fine, light grey scales
  • The skin on palm of the hands and sole of the feet may have more lines than normal and be thickened
  • The child often also has eczema
  • Symptoms are more prominent during winters

X-linked ichthyosis

  • Scales are present at or shortly after birth
  • Males are generally affected
  • May be associated with testicular disease

Lamellar ichthyosis

  • It is seen in babies
  • Baby is covered in a thick membrane at birth, which is then shed
  • Scales are present which affects whole body
  • The child may also have drooping lower eyelids (ectropion)

Epidermolytic ichthyosis 

  • The skin is moist, red and tender at birth with blistering
  • Thick scaling occurs as the baby grows

Acquired ichthyosis tends to develop in adulthood and is not inherited.

It’s usually associated with another disease such as:

  • An underactive thyroid
  • kidney disease
  • lymphoma (a type of cancer)
  • HIV infection

Causes:

Inherited Ichthyosis is caused by mutations in genes passed on to the child by both parents. Parents carrying genes may not manifest condition. Mutations may also affect gametes (sperm or ovum) or zygote (product of conception).

 

Diagnosis :

Ichthyosis is generally diagnosed by physical examination of the skin. Sometimes a family history is also very useful. A skin biopsy is also done at times to help to confirm the diagnosis.

 

Management:

Doctor may prescribe moisturizers. Creams and ointments work better than lotions.These creams should be applied to moist skin immediately after bathing. One should use mild, non-drying soaps.
Moisturizing creams contains chemicals that help skin to shed normally, including lactic acid, salicylic acid, and urea.

 

References : 

www.nlm.nih.gov

www.niams.nih.gov

www.nhs.uk

 

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