2 citations
,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
61 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin and hair follicles.
9 citations
,
December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
4 citations
,
April 2018 in “The journal of pediatrics/The Journal of pediatrics” A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
1 citations
,
January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
28 citations
,
June 2010 in “Pediatric dermatology” Short anagen syndrome causes short hair that may grow longer after puberty.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
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.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
21 citations
,
April 2019 in “Clinical, cosmetic and investigational dermatology” The document concludes that stopping shaving or removing affected hair can alleviate Pseudofolliculitis barbae (PFB).
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
April 2025 in “International Journal For Multidisciplinary Research” A rare ovarian tumor caused early puberty in a 3-year-old girl.
January 2025 in “International Journal of Trichology” Loose anagen hair syndrome in children often resolves on its own.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
1 citations
,
December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
12 citations
,
December 2002 in “Archives of Dermatology” Sweet syndrome can be the only sign of hairy cell leukemia relapse.
7 citations
,
February 2019 in “Anais Brasileiros de Dermatologia” July 1998 in “Annals of saudi medicine/Annals of Saudi medicine” A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
20 citations
,
October 2005 in “Archives of Dermatological Research”
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.