3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
5 citations
,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
38 citations
,
May 2017 in “Medical Science Monitor” Myositis in lupus patients is linked to skin rash, hair loss, blood issues, and high disease activity.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
1 citations
,
July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
2 citations
,
June 2023 in “Clinical and Experimental Neuroimmunology” Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
December 2011 in “Journal of the Turkish Academy of Dermatology” Pityriasis rubra pilaris can occur with myasthenia gravis.
1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
June 2025 in “International Journal of Molecular Sciences” LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
1 citations
,
November 2021 in “Translational pediatrics” Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
54 citations
,
November 1986 in “Journal of the American Academy of Dermatology” Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
7 citations
,
January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
April 2026 in “SHILAP Revista de lepidopterología” Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
16 citations
,
June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
21 citations
,
September 1990 in “Journal of The American Academy of Dermatology” Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
1 citations
,
November 1991 in “PubMed” Immunoadsorption successfully treated a man's resistant polymyositis.