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.
1 citations
,
January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
January 2009 in “Chinese Journal of Evidence-Based Pediatrics” Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
4 citations
,
January 2017 in “PubMed” A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
2 citations
,
June 1953 in “Journal of the American Medical Association” Leprosy is mainly contracted during infancy or childhood.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
11 citations
,
May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
61 citations
,
March 2009 in “The Journal of the American Board of Family Medicine” Early diagnosis and treatment of discoid lupus erythematosus improve outcomes.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
January 2020 in “International Journal of PharmTech Research” A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
8 citations
,
August 2019 in “JAAD case reports” Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
21 citations
,
September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.