3 citations
,
March 2021 in “Indian Journal of Rheumatology” Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
54 citations
,
May 2019 in “Multiple Sclerosis and Related Disorders” Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
35 citations
,
February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
March 2024 in “Cosmoderma” Botulinum toxin is used for neck, shoulder, calf, and ankle slimming, and hair loss treatment, but can cause muscle weakness and atrophy with regular use.
20 citations
,
September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
2 citations
,
June 2022 in “대한스포츠의학회지” Anabolic steroids boost muscle growth, SARMs increase muscle mass and bone density without side effects, and myostatin inhibitors block a protein that stops muscle growth, but each has potential risks.
January 2026 in “Case Reports in Rheumatology” Rituximab improved her dermatomyositis better than usual treatments.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
3 citations
,
July 2021 in “Cutis” Panniculitis in dermatomyositis is rare, more common in women, and may persist despite treatment.
June 2017 in “Acta Scientiae Veterinariae” A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
34 citations
,
December 1984 in “Journal of Cutaneous Pathology” Monilethrix hair issues are due to problems in the hair's internodes.
1 citations
,
November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
January 2014 in “ACTA SCIENTIAE VETERINARIAE” The cat's skin condition was resistant to treatment and did not improve.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
May 2015 in “The Journal of Dermatology” Alopecia areata and polymyalgia rheumatica may be linked autoimmune conditions.