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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Generalized lichen nitidus in identical twins.

Alexander K C Leung1, Jeffrey Ng

  • 1Department of Pediatrics, The University of Calgary and The Alberta Children's Hospital, Calgary, AL, Canada T2M 0H5.

Case Reports in Dermatological Medicine
|December 6, 2012
PubMed
Summary
This summary is machine-generated.

Generalized lichen nitidus is rare in infants. This study reports identical twins with this condition, suggesting a possible genetic link for this uncommon skin disorder.

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Area of Science:

  • Dermatology
  • Genetics

Background:

  • Lichen nitidus is an uncommon, idiopathic, chronic dermatosis.
  • It presents as minute, shiny papules, typically localized but sometimes extensive.
  • Infantile lichen nitidus is exceptionally rare, with only two prior reported cases.

Purpose of the Study:

  • To report a rare case of generalized lichen nitidus in infancy.
  • To explore the potential role of genetic factors in lichen nitidus.

Main Methods:

  • Case report of two identical twins.
  • Clinical observation of generalized lichen nitidus lesions.

Main Results:

  • Identical twins presented with generalized lichen nitidus at two months of age.
  • The familial occurrence in this case suggests a potential genetic predisposition.

Conclusions:

  • The familial occurrence of generalized lichen nitidus in identical twins supports the hypothesis that genetic factors may play a role in its development.
  • This case highlights the extreme rarity of infantile lichen nitidus and underscores the need for further research into its etiology.