1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
3 citations
,
April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
2 citations
,
February 1981 in “Journal of the Royal Society of Medicine” A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
October 2015 in “The American Journal of Gastroenterology” Allopurinol may cause rare granulomatous microscopic colitis.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
1 citations
,
July 2014 in “Nepal journal of dermatology, venereology & leprology” Patients with chronic kidney disease on hemodialysis often have skin problems.
May 2025 in “The Journal of Rheumatology” Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
March 2026 in “Pediatrics in Review” The boy's symptoms improved with thyroid treatment, and he lost weight, but occasional palpitations persisted.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
January 2019 in “Egyptian Journal of Obesity, Diabetes and Endocrinology” People with polycystic ovary syndrome often have low levels of vitamin D.
35 citations
,
June 2015 in “Pediatrics in Review” Graves' disease mainly causes hyperthyroidism in children, especially girls aged 10-14, with treatment options including medication, radioactive iodine, and surgery.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
35 citations
,
February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
January 2022 in “International Journal of Clinical Oncology and Cancer Research” Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.