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Related Concept Videos

Cells of the Epidermis01:24

Cells of the Epidermis

The epidermis is made of four or five layers of epithelial cells, depending on its location in the body. From deep to superficial, these layers are the stratum basale, stratum spinosum, stratum granulosum, stratum lucidum, and stratum corneum.
The cells in all these layers except the stratum basale are called keratinocytes, a type of cell that manufactures and stores the protein keratin. The keratinocytes in the stratum corneum are dead and regularly slough away, being replaced by cells from...
Reticular Dermis01:15

Reticular Dermis

The papillary and reticular dermis are the two layers of the dermis. They are made of connective tissue with fibers of collagen extending from one to the other, making the border between the two somewhat indistinct. The dermal papillae extending into the epidermis belong to the papillary layer, whereas the dense collagen fiber bundles below belong to the reticular layer.
Reticular Layer
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Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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Desmosomes01:05

Desmosomes

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Related Experiment Video

Updated: Jul 15, 2026

Generation of Self-assembled Vascularized Human Skin Equivalents
09:04

Generation of Self-assembled Vascularized Human Skin Equivalents

Published on: February 12, 2021

Hyalinosis cutis et mucosae.

Bernadette Vago1, Ingrid Hausser, Hans Christian Hennies

  • 1Department of Dermatology, University of Heidelberg, Germany. bernadette.vago@med.uni-heidelberg.de

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|April 25, 2007
PubMed
Summary

Hyalinosis cutis et mucosae, a rare genetic disorder, involves hyaline deposits in skin and mucous membranes. A novel mutation in the ECM1 gene was identified in a patient with this condition.

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Cultivating a Three-dimensional Reconstructed Human Epidermis at a Large Scale
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Last Updated: Jul 15, 2026

Generation of Self-assembled Vascularized Human Skin Equivalents
09:04

Generation of Self-assembled Vascularized Human Skin Equivalents

Published on: February 12, 2021

Cultivating a Three-dimensional Reconstructed Human Epidermis at a Large Scale
08:49

Cultivating a Three-dimensional Reconstructed Human Epidermis at a Large Scale

Published on: May 28, 2021

Area of Science:

  • Dermatology
  • Genetics
  • Pathology

Background:

  • Hyalinosis cutis et mucosae is a rare autosomal recessive disorder.
  • It is characterized by hyaline material deposition around the basement membrane of skin and mucous membranes.
  • Clinical manifestations include hoarseness, mucosal infiltration, and papular verrucous skin changes.

Observation:

  • A 24-year-old male patient with a history of the condition since age seven was re-evaluated.
  • The patient presented with persistent hoarseness and extensive verrucous skin lesions on elbows and knees.
  • These skin lesions were surgically removed.

Findings:

  • Mutations in the extracellular matrix protein 1 (ECM1) gene are the known cause of Hyalinosis cutis et mucosae.
  • Genetic analysis revealed a new mutation within the ECM1 gene in this patient.
  • This finding expands the spectrum of known ECM1 mutations associated with the disorder.

Implications:

  • Identification of a new ECM1 mutation contributes to understanding the genetic basis of Hyalinosis cutis et mucosae.
  • This discovery may aid in future genetic diagnostics and counseling for affected families.
  • Further research into ECM1 function could elucidate the mechanisms of hyaline deposition.