June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
136 citations
,
September 2019 in “Journal of Clinical Investigation” Dermal adipose tissue in mice can change and revert to help with skin health.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
2 citations
,
January 2015 in “Springer eBooks” Early diagnosis and aggressive treatment are crucial for Cicatricial Alopecia, and treatment effectiveness varies among patients.
3 citations
,
March 1981 in “Journal of Toxicology and Environmental Health” Rats developed lung issues from the drugs, but these cleared quickly after stopping them.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
January 2024 in “Brazilian journal of veterinary pathology” The dog likely has a condition similar to Canine alopecia X.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
23 citations
,
January 2017 in “Current Rheumatology Reports” Unique fat cells near fibrotic areas contribute to systemic sclerosis progression.
January 2005 in “Life sciences” Targeting LPA could help treat skin disorders.
5 citations
,
May 2025 in “Nature Communications” Dietary fats are stored in the skin, affecting body heat regulation.
61 citations
,
March 2009 in “The Journal of the American Board of Family Medicine” Early diagnosis and treatment of discoid lupus erythematosus improve outcomes.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
2 citations
,
December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
July 2018 in “Elsevier eBooks” Discoid Lupus Erythematosus often causes scarring hair loss, is influenced by genetics and environment, and requires early treatment to prevent worsening.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
8 citations
,
January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
56 citations
,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
Improved nutrition quickly healed the patient's skin lesions.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
1 citations
,
January 2008
June 2018 in “Acta Scientiae Veterinariae” Tailored treatment plans are crucial for managing canine dermatomyositis-like disease.
82 citations
,
November 1985 in “Archives of Dermatology” The newborn's skin condition improved over time, leaving only lighter skin patches.
October 2022 in “Dermatology practical & conceptual” Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.
A new genetic mutation was found causing hair and eye issues in a boy.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
19 citations
,
May 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.