6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
1 citations
,
January 2008 in “Proceedings of the 9th World Rabbit Congress, Verona, Italy, 10-13 June 2008” Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
24 citations
,
July 1983 in “Clinical and Experimental Dermatology” Tigason improved hair growth in a boy with monilethrix without side effects.
24 citations
,
January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
8 citations
,
October 1988 in “Clinics in dermatology” The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
10 citations
,
January 2012 in “International Journal of Trichology” PRP helps hair growth in common hair loss disorder.
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
5 citations
,
January 2015 in “Current problems in dermatology” The document concludes that a thorough history, physical exam, and specific tests are crucial for diagnosing and managing hair loss effectively.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
November 2025 in “Journal of Medicine and Health Technology” No link between finger length ratios and color blindness was found.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
29 citations
,
August 2017 in “Skin appendage disorders” IGF-1 may affect hair growth and loss, but more research is needed to confirm effective and safe treatments.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
9 citations
,
July 1995 in “Veterinary Clinics of North America: Small Animal Practice” The document concludes that hair loss in cats is caused by various factors, including allergies, mites, infections, and hormonal issues, with treatments varying accordingly.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.