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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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Published on: October 17, 2025

Tuberous sclerosis with interesting features.

P Kumar1, S Brindha, M Manimegalai

  • 1Department of Dermatology, Stanley Medical College, Madras-60001, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 16, 2010
PubMed
Summary
This summary is machine-generated.

This case report details tuberous sclerosis, a genetic disorder, presenting with unusual features like brain calcifications, retinal abnormalities, and early graying of hair.

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Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Tuberous sclerosis is a rare genetic disorder affecting multiple organs.
  • Intracranial calcification, retinal phakoma, and premature canities are known manifestations, but their co-occurrence is noteworthy.

Purpose of the Study:

  • To report an interesting case of tuberous sclerosis.
  • To highlight the co-occurrence of specific clinical features.

Main Methods:

  • Case study methodology.
  • Clinical observation and diagnosis of tuberous sclerosis.

Main Results:

  • The patient presented with tuberous sclerosis.
  • Key findings included intracranial calcification, retinal phakoma, and premature canities.

Conclusions:

  • This case underscores the varied clinical spectrum of tuberous sclerosis.
  • The combination of neurological, ophthalmological, and dermatological (hair) findings provides valuable clinical insight.