Letter S

Syndrome, Bloch-Sulzberger

13 views

Also known as incontinentia pigmenti (IP).

A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin.

(The name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) Other key features of IP include dental and nail abnormalities, bald patches, and (in about 1/3<SUP>rd</SUP> of cases) mental retardation.

IP is an X-linked dominant with male lethality.

The IP gene is in band q28 on the X chromosome.

Mothers with IP have an equal chance of having a normal or IP daughter or a normal son.

The IP sons die before birth.

IP is also known as Bloch-Sulzberger syndrome.

Share this definition

Medical disclaimer

The information on this page is for educational and informational purposes only and does not constitute medical advice in any way.

  • It does not replace the advice of a physician, pharmacist or other healthcare professional.
  • It does not represent a prescription of drugs, diagnostic exams or therapies.
  • In case of symptoms, doubts or concerns about your health, always consult a qualified physician.

In case of emergency call 911 (US) or 112 (EU).