3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
12 citations
,
March 2018 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A patient had both chronic cutaneous lupus erythematosus and frontal fibrosing alopecia.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
5 citations
,
October 2019 in “JAAD Case Reports” These hair loss conditions might be part of a spectrum, not separate issues.
November 2018 in “Skin appendage disorders” The document concludes that a woman has both Frontal Fibrosing Alopecia and Lichen Simplex Chronicus, a previously unreported combination of conditions.
March 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Removing a tumor may resolve associated skin and hair symptoms.
2 citations
,
January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
September 2021 in “CRC Press eBooks” Fibrosing alopecia in a pattern distribution is a type of hair loss that may often be overlooked, especially in men.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
5 citations
,
March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
4 citations
,
November 2016 in “The Journal of Dermatology” Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
3 citations
,
July 2024 in “Dermatology and Therapy” Hair shaft abnormalities can help distinguish mycosis fungoides from other skin conditions.
January 2011 in “The Chinese Journal of Dermatovenereology” The woman's skin condition improved with specific oral and topical treatments.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
18 citations
,
May 2006 in “Journal of Cutaneous Medicine and Surgery” Linear lichen planopilaris can affect the trunk, not just the face.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
108 citations
,
July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
A new genetic mutation was found causing hair and eye issues in a boy.