Incontinentia pigmenti | Bloch-Sulzberger syndrome

Incontinentia pigmenti is an abnormal genetic condition that affects the skin, hair, nails, eye, teeth, and central nervous system. This is an X-linked inheritance, the gene acts dominantly. It means both males and females show disorder.

Incontinentia pigmenti disturbed different body systems as skin. This condition is mostly found in females than males. The symptoms show from childhood to maturity.

Most infected infants are blistering rash at birth and beginning of the development of the fetus. The skin appears greyish or brownish spots that are found irregular. This Hyperpigmentation changes with time and becomes light-colored. Incotinentia pigmenti or Bloch-Sulzberger syndrome is a very rare disease it is lethal. [1]SciELO – Brazil – Incontinentia pigmenti Incontinentia pigmenti

Causes of Incontinentia pigmenti

Incotinentia pigmenti is genetic based disorder and caused by defects in X chromosome. It is X-Linked dominent disorder.

Maximum females and males both are affected by this disorder. This disease is produced by an abnormality in a sex chromosome (X) and two same XX chromosomes are found in females therefore this disease mostly transfers from parents to female offspring. [2]Sweet’s syndrome (orpha.net)

What are symptoms of Incontinentia pigmenti

Following are major symptoms of Incontinentia pigmenti

  • Discoloration of skin in which spots become appear on the skin and these spots disappear with the passage of time.
  • Redness of skin which also called hyperpigmentation in which more pigments accumulate in the skin and with time it becomes hypopigmentation as fewer pigments.
  • Few females with IP have thin hair and some may also have bald patches. In mature age, only some patients show minor abnormality of loss of hairs and mostly become normal.
  • Nails discoloration is found about more than 40% of IP patients
  • Reduction of pigments
  • Dental abnormalities
  • Abnormality in the eye which loss of vision is found about in few patients. [3]Incontinentia pigmenti | DermNet NZ

What is treatment of Incontinentia pigmenti

Because of sex linked disorder there is no proper treatment is available. But on the other hand mnagement of symptoms are available that can be done with consultation of doctor.

Gene test before marriages is very necessy. [4]Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti (ern-skin.eu)

 

Reviewed by:

Dr. Akhtar Nawaz Lak

MBBS, FCPS (Internal Medicine)

Ex. Medical Specialist, Services hospital, Lahore

Ex. Medical Specialist, Allied hospital, Faisalabad

Our reviewers’ details, Click Here

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