December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
4 citations
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December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
November 2012 in “Annales de Dermatologie et de Vénéréologie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
1 citations
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January 2015 in “Acta Dermato Venereologica” Autoimmune myopathy may be linked to hair loss and skin depigmentation.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
April 2016 in “Journal of The American Academy of Dermatology” Lichen planus may be associated with a higher risk of metabolic syndrome.
1 citations
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May 2024 in “Cureus” Lichen planopilaris can unusually affect only the face, causing pigmentation and scarring.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
10 citations
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October 1992 in “PubMed” Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
3 citations
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September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
December 2010 in “Elsevier eBooks” Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.