12 citations
,
June 2013 in “International Journal of Dermatology” Seborrheic keratosis shows varied cell differentiation, and keratin analysis helps diagnose skin tumors.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
23 citations
,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
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.
November 2016 in “Oncology Letters” Milia may come from the outer part of the hair follicle.
1 citations
,
January 1995 in “Skin Cancer” Immunohistochemistry helps accurately identify and differentiate malignant trichilemmoma.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
44 citations
,
March 2012 in “Molecular Carcinogenesis” Keratin 15 cells from hair follicles help develop and maintain skin tumors in mice.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 1 citations
,
March 2006 in “Journal of Cosmetic Dermatology” The woman's forehead lesion was caused by ointment use and resolved with treatment.
8 citations
,
April 2014 in “Clinical and Experimental Dermatology” Eruptive vellus hair cysts likely originate from the infrainfundibulum and sebaceous duct.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
92 citations
,
April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
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.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
16 citations
,
February 2018 in “Journal of The American Academy of Dermatology” Scalp biopsies from dermatomyositis patients show chronic hair loss without scarring, with mucin and blood vessel changes being very common.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
9 citations
,
September 2020 in “Journal of cosmetic dermatology” A woman developed vitiligo from repeated eyebrow microblading.
10 citations
,
July 1984 in “British Journal of Dermatology” Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.