January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
26 citations
,
February 1991 in “PubMed” Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.
October 2020 in “Our Dermatology Online” Chronic bacterial infections of hair follicles can cause ongoing skin inflammation.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
January 2012 in “Journal of Cosmetics, Dermatological Sciences and Applications” The document concluded that certain clinical signs and hair growth tests help diagnose Short Anagen Syndrome.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
21 citations
,
April 1982 in “Genetics Research” Mice with the naked gene have missing or abnormal hair cells.
18 citations
,
March 2015 in “Journal of Dermatological Case Reports” Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.
April 2021 in “Research Square (Research Square)” N-acetylcysteine improved symptoms of trichotillomania and bulimia.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
33 citations
,
February 2011 in “International Journal of Dermatology” Orange spots in scalp trichoscopy can help diagnose scalp sarcoidosis.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
1 citations
,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
3 citations
,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
38 citations
,
July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
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.
3 citations
,
January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.