7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
2 citations
,
March 2016 in “International Journal of Dermatology” Kikuchi–Fujimoto disease can cause scarring alopecia and should be considered in diagnosis.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
A new genetic mutation was found causing hair and eye issues in a boy.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
2 citations
,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
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.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
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.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.