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PLCD1 and Pilar Cysts.

Yutaka Shimomura1, Ryan O'Shaughnessy2, Neil Rajan3

  • 1Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.

The Journal of Investigative Dermatology
|September 24, 2019
PubMed
Summary
This summary is machine-generated.

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Multiple trichilemmal cysts, common on the scalp, have an elusive genetic cause. A new study identifies predisposing variants in PLCD1, suggesting a monoallelic mutation mechanism drives cyst formation in affected families.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Trichilemmal cysts (TCs), also known as pilar cysts, are benign tumors originating from the outer root sheath of hair follicles, predominantly affecting the scalp.
  • Familial occurrence of multiple TCs follows an autosomal dominant inheritance pattern, but the underlying genetic factors have not been identified.

Purpose of the Study:

  • To investigate the genetic basis of multiple trichilemmal cysts in families with autosomal dominant inheritance.
  • To identify specific genes and mutations predisposing individuals to the development of TCs.

Main Methods:

  • Genetic analysis of families with multiple trichilemmal cysts.
  • Identification and characterization of variants in candidate genes, including PLCD1.

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Main Results:

  • The study identified predisposing variants in the Phospholipase C Delta 1 (PLCD1) gene in families exhibiting multiple trichilemmal cysts.
  • These findings suggest a monoallelic mutational mechanism in PLCD1 is associated with TC development.

Conclusions:

  • Variants in PLCD1 are implicated as a genetic cause for multiple trichilemmal cysts with autosomal dominant inheritance.
  • The identified mutations provide insight into the molecular pathogenesis of TCs and may inform future diagnostic approaches.