10 citations
,
July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
12 citations
,
November 2018 in “Archives of Dermatological Research”
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
1 citations
,
September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
14 citations
,
April 2017 in “Scientific Reports” Using a perfusion system and 3D spheroid culture improves the growth of corneal cell layers for tissue engineering.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
28 citations
,
August 2015 in “Journal of functional biomaterials” Cell-based therapies show promise for treating Limbal Stem Cell Deficiency but need more research.
3 citations
,
December 2020 in “Scientific reports” Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
6 citations
,
June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
96 citations
,
September 1996 in “PubMed” Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.
1 citations
,
June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
55 citations
,
January 2004 in “The International Journal of Developmental Biology” Corneal cells can transform into hair-producing skin cells when exposed to certain signals.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
56 citations
,
November 1958 in “The Journal of Cell Biology” A unique skin cell similar to hair bulb melanocytes was identified, with better preservation using permanganate fixation.