17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
1 citations
,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
May 2024 in “International journal of surgery case reports” A man had a large, rare cyst in his mouth removed after 10 years, which fixed his swallowing and breathing problems.
11 citations
,
January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.
1 citations
,
July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
6 citations
,
February 2023 in “Journal of the American Academy of Dermatology” Upadacitinib improved hair regrowth and quality of life in alopecia areata patients with minimal side effects.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
September 2007 in “Journal of Oral and Maxillofacial Surgery” Gunshot injuries to the face require urgent care and multiple surgeries for recovery.
5 citations
,
August 2011 in “Journal of Dermatological Science” Dentin sialoprotein and phosphophoryn are present in rodent hair follicles and may help hair growth and development.
67 citations
,
September 2017 in “Cell Reports” Caloric restriction improves skin and fur structure but can cause muscle loss and movement issues.
17 citations
,
October 2005 in “Journal of Biological Chemistry” Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
10 citations
,
December 2016 in “Asian Journal of Psychiatry” Sheehan's syndrome can sometimes cause psychosis.
2 citations
,
March 2020 in “JAAD case reports” A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
1 citations
,
May 2025 in “Carbohydrate Polymers” The new chitosan dressing heals wounds better and faster than current products.
1 citations
,
July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
April 2025 in “Research Journal of Topical and Cosmetic Sciences” Bromelain in shampoo is a safe and effective anti-dandruff treatment that improves hair health and shine.
1 citations
,
April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
2 citations
,
January 2013 in “Journal of the Korean Association of Oral and Maxillofacial Surgeons” Dental tissues are a promising and accessible source of adult stem cells for regenerative medicine.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
40 citations
,
May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
36 citations
,
July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
134 citations
,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
7 citations
,
August 2008 in “Cases Journal” A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.