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Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...

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Updated: May 20, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

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Published on: September 20, 2018

Collodion baby and loricrin keratoderma: a case report and mutation analysis.

J M Yeh1, M H Yang, S C Chao

  • 1Department of Dermatology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan, China.

Clinical and Experimental Dermatology
|July 27, 2012
PubMed
Summary

Hereditary palmoplantar keratoderma (PPK) is a group of skin disorders. A genetic mutation in the loricrin gene was identified as a cause of PPK, which may present initially as a collodion baby.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Hereditary palmoplantar keratodermas (PPK) are a diverse group of genetic skin disorders characterized by impaired epidermal differentiation and palmoplantar hyperkeratosis.

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  • Advances in molecular genetics have enabled classification of PPK based on underlying genetic defects, including those in keratins, loricrin, desmosomes, connexins, and cathepsins.