April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
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.
5 citations
,
March 2019 in “Scandinavian journal of rheumatology” Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
November 2024 in “Rheumatology Advances in Practice” Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
April 2021 in “BMJ Case Reports” Accurate diagnosis of pseudolymphomatous folliculitis is crucial to avoid mistaking it for more serious conditions.
July 2025 in “Dermatology Reports” Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
6 citations
,
July 2009 in “Veterinary dermatology” Vesiculobullous lesions should be considered part of canine cutaneous epitheliotropic T-cell lymphoma.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
2 citations
,
July 2016 in “Veterinary dermatology” Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
9 citations
,
September 2006 in “Veterinary pathology” A dog with unusual skin lesions near its tail was successfully treated for a rare form of lupus.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
39 citations
,
July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
5 citations
,
November 2015 in “International Journal of Dermatology”
August 2019 in “Blucher Medical Proceedings” Lupus Panniculitis can be an early sign of Systemic Lupus Erythematosus.
August 2018 in “Journal of The American Academy of Dermatology” A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.