People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
19 citations,
June 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
15 citations,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
4 citations,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
7 citations,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
66 citations,
November 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
27 citations,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
May 2023 in “Journal of Investigative Dermatology” People with Alopecia Areata are more likely to have certain health issues like ulcerative colitis and type 1 diabetes, but less likely to have others like hypertension and type 2 diabetes.
4 citations,
January 2014 in “Indian journal of paediatric dermatology” Methotrexate is effective and well-tolerated in children for certain skin conditions but requires careful monitoring.
2 citations,
January 1996 in “Annals of saudi medicine/Annals of Saudi medicine” Alopecia areata is unpredictable, with limited treatment effectiveness, especially in severe cases.
January 2014 in “S. Karger AG eBooks” Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
September 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
32 citations,
April 1999 in “Expert Opinion on Investigational Drugs” Finasteride effectively treats male hair loss, improving growth and density.
2 citations,
January 2010 in “Hormone Molecular Biology and Clinical Investigation” Low dose finasteride decreases certain steroids, possibly increasing depression risk.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
January 2023 in “Integrative Journal of Medical Sciences” A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
46 citations,
January 2015 in “Pediatric Rheumatology” Skin symptoms are important for diagnosing and managing juvenile-onset systemic lupus erythematosus and usually get better with treatment.
8 citations,
January 2019 in “Acta dermato-venereologica” Some children with localized scleroderma are rarely resistant to methotrexate, and no common profile for resistance was found.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
16 citations,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
9 citations,
September 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
3 citations,
January 2019 in “Annals of Dermatology” The study concluded that careful examination is key to differentiate between lipidized fibrous histiocytoma and juvenile xanthogranuloma.
27 citations,
January 2010 in “Animal” South American camelids should be sheared early, fleece type affects fiber quality, and the S/P follicle ratio doesn't distinguish between Bolivian llama genotypes.
24 citations,
July 2019 in “Cochrane library” Some treatments like methotrexate with prednisone might help juvenile morphea, but more research is needed to confirm.
1 citations,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
30 citations,
January 2018 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.