9 citations
,
April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
40 citations
,
December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
15 citations
,
May 2010 in “International Journal of Cosmetic Science” The cell membrane complex in mammalian hair has three distinct types with different structures and chemical properties.
9 citations
,
July 2008 in “Archives of Dermatological Research” 3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
15 citations
,
April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
19 citations
,
May 2016 in “Aging Cell” Older people's sweat glands are less effective at helping skin wounds heal due to weaker cell connections.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
16 citations
,
October 1992 in “Journal of cutaneous pathology” Bubble hair deformity may be caused by hair shaft trauma and can improve with gentle hair care.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
15 citations
,
August 2015 in “Scanning” Corkscrew and cigarette-ash-shaped hairs in tinea capitis are caused by internal hair degradation and external resistance.
11 citations
,
June 1985 in “Journal of cutaneous pathology” Examining many sections is key to correctly diagnosing hair follicle disorders.