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Related Concept Videos

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,...
X-linked Traits01:19

X-linked Traits

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”.
X-linked Traits01:19

X-linked Traits

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”.
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genetic Lingo01:11

Genetic Lingo

Overview
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

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Visualization of Craniofacial Development in the sox10: kaede Transgenic Zebrafish Line Using Time-lapse Confocal Microscopy
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X-linked ichthyosis: an oculocutaneous genodermatosis.

Neil F Fernandes1, Camila K Janniger, Robert A Schwartz

  • 1Dermatology, New Jersey Medical School, Newark, New Jersey 07103, USA.

Journal of the American Academy of Dermatology
|January 19, 2010
PubMed
Summary
This summary is machine-generated.

X-linked ichthyosis (XLI) is a genetic skin disorder caused by steroid sulfatase deficiency, leading to abnormal skin scaling. Treatment focuses on moisturizing and keratolysis for symptom management.

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Area of Science:

  • Dermatology
  • Genetics
  • Biochemistry

Background:

  • X-linked ichthyosis (XLI) is a rare genetic disorder affecting skin keratinization.
  • It is characterized by abnormal desquamation and hyperkeratosis due to steroid sulfatase deficiency.
  • Extracutaneous manifestations can include corneal opacities and cryptorchidism.

Purpose of the Study:

  • To provide a comprehensive overview of X-linked ichthyosis.
  • To detail the clinical presentation, diagnosis, and management of XLI.
  • To highlight the underlying biochemical and genetic basis of the disorder.

Main Methods:

  • Clinical observation and description of XLI characteristics.
  • Review of diagnostic approaches including clinical, biochemical, and genetic analyses.
  • Summary of current treatment strategies for cutaneous symptoms.

Main Results:

  • XLI presents with characteristic scaling patterns from birth, evolving over time.
  • Diagnosis is primarily clinical, confirmed by biochemical or genetic testing.
  • Effective management involves topical treatments for skin hydration and scale removal.

Conclusions:

  • XLI is a distinct X-linked disorder with significant dermatological impact.
  • Accurate diagnosis relies on clinical suspicion supported by specific testing.
  • A combination of hydration, lubrication, and keratolysis is key for managing XLI symptoms.