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GlossaryKeratoderma

thickening of skin on palms and soles

Keratoderma refers to a group of skin conditions characterized by the thickening of the outer layer of the skin, particularly on the palms of the hands and the soles of the feet. This thickening is due to an overproduction of keratin, a key structural protein in the skin. It can be inherited or acquired and may be associated with other medical conditions.

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Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

17 citations, February 2015 in “Cell Death and Disease”

Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.

research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

10 citations, November 2017 in “Journal of Investigative Dermatology”

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations, April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

research Resolution of Pseudoainhum with Acitretin Therapy in a Patient with Palmoplantar Keratoderma and Congenital Alopecia

6 citations, February 2019 in “JAAD case reports”

Acitretin helped improve hand mobility and skin condition in a patient.

RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development

research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development

5 citations, July 2022 in “Orphanet journal of rare diseases”

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

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