25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
83 citations
,
May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
January 2021 in “Skin Appendage Disorders” March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
June 2026 in “JAAD Case Reports” Scurvy, caused by vitamin C deficiency, can occur in people with restrictive diets and can be diagnosed by twisted hair shafts.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
21 citations
,
December 2014 in “Pediatric Dermatology” Most children with pediatric trachyonychia improve over time, regardless of treatment.
2 citations
,
May 2024 in “International Journal of Dermatology”
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
160 citations
,
January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
June 2018 in “International Journal of Dermatology” 2 citations
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February 2021 in “PubMed” Koilonychia in alopecia areata can improve with oral corticosteroids.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
19 citations
,
November 1985 in “Archives of Dermatology” The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
12 citations
,
May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.