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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
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Tuberous Sclerosis Complex: An Update for Dermatologists.

Stephanie K Jacks1, Patricia M Witman1

  • 1Nationwide Children's Hospital, Columbus, Ohio.

Pediatric Dermatology
|March 18, 2015
PubMed
Summary

Tuberous sclerosis complex (TSC) is an inherited disorder affecting skin. This review updates dermatologists on the latest 2012 diagnostic guidelines and treatments for TSC skin manifestations.

Area of Science:

  • Genetics and rare diseases
  • Dermatology
  • Pediatric care

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
  • Early-onset cutaneous features are common in TSC.
  • Dermatologists play a crucial role in managing pediatric TSC cases.

Purpose of the Study:

  • To provide an update on the diagnosis of TSC based on the 2012 International Tuberous Sclerosis Complex Consensus Conference guidelines.
  • To review recent advancements in the treatment of skin findings associated with TSC.
  • To ensure dermatologists are current with TSC management for children.

Main Methods:

  • Review of the 2012 International Tuberous Sclerosis Complex Consensus Conference diagnostic criteria.
  • Literature search for recent developments in TSC dermatological treatments.

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  • Synthesis of guideline updates and treatment advancements.

    • Main Results:

    • The 2012 consensus conference established updated diagnostic guidelines for TSC.
    • Recent literature highlights evolving treatment strategies for TSC-related skin conditions.
    • Current management emphasizes early diagnosis and tailored therapeutic approaches.

    Conclusions:

    • Adherence to updated diagnostic guidelines is essential for accurate TSC identification.
    • Ongoing research is improving therapeutic options for TSC cutaneous manifestations.
    • Continuous education for dermatologists is vital for optimal pediatric TSC patient care.