Trichorrhexis nodosa syndrome

Pollitt syndrome, Trichothiodystrophy type C, Trichothiodystrophy-neurocutaneous syndrome syndrome, Trichothiodystrophy-neurocutaneous syndrome, Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt

Overview

Type of disease: Rare conditions

Trichorrhexis nodosa syndrome (Pollitt syndrome) is a very rare condition that begins shortly after birth. Pollitt syndrome is a type of Trichothiodystrophy (TTD). All types of TTD cause short, brittle hair. This means the hair will be very dry and thin. The hair will also have low sulfur content. Pollitt syndrome causes slow growth and intellectual deficit. This means that a person with Pollitt syndrome will not be able to think like most other people their age. Pollitt syndrome also causes congenital ichthyosis and nail growth problems. Someone with congenital ichthyosis will have very dry skin.

Someone with Pollitt syndrome will be shorter than most other people. They will have vision problems and will easily get infections. Pollitt syndrome also causes fertility problems. This means someone with Pollitt syndrome will have trouble having children.

Pollitt syndrome is passed down from parents to their children through genes. Genes are sections of DNA that act as an instruction manual for the body. DNA is a “code” made up of small parts called nucleotides. A gene mutation is when one or more nucleotides in the DNA “code” that makes up a gene is changed. Pollitt syndrome is caused by a mutation in the MPLKIP gene. Pollitt syndrome is inherited in an autosomal recessive pattern. This means that both parents must pass a mutation in MPLKIP down to their child in order for the child to have Pollitt syndrome.

Pollitt syndrome can be diagnosed by a physical examination. This can usually be done just after birth. There is no specific treatment for Pollitt syndrome. If you or a family member has been diagnosed with Pollitt syndrome, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.

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