1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
October 2014 in “Journal of the Portuguese Society of Dermatology and Venereology” Early recognition and treatment of LPP can prevent hair loss and improve quality of life.
6 citations
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May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
40 citations
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August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
32 citations
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July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
16 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Managing frontal fibrosing alopecia and lichen planus pigmentosus is challenging due to resistant hair loss and skin discoloration.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
1 citations
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April 2025 in “Journal of Feline Medicine and Surgery” Early diagnosis and treatment by vets are crucial for managing rare but severe feline skin disorders.
January 1983 in “Journal of the Japan Veterinary Medical Association” Daily treatment eventually improved the dog's symptoms.
October 2023 in “Journal of the Endocrine Society” A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
13 citations
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December 2010 in “Journal of the American Veterinary Medical Association” A dog in Colorado was diagnosed with leishmaniasis, suggesting the disease might be present in the state.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
15 citations
,
July 1975 in “British journal of dermatology/British journal of dermatology, Supplement” Graham-Little syndrome causes scarring hair loss and skin bumps.
3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
3 citations
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June 2019 in “Veterinary record case reports” A dog developed a skin condition called pemphigus foliaceus after taking NexGard, but got better with treatment.
2 citations
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November 2023 in “Indian Dermatology Online Journal” A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
9 citations
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May 2016 in “Veterinary dermatology” Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
December 2025 in “Reports — Medical Cases Images and Videos” Discoid lupus erythematosus can be mistaken for a skin infection, complicating diagnosis and treatment.
4 citations
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November 2019 in “Dermatology - Open Journal” Lichen planus pigmentosus is hard to treat and may be more common in North Africa than previously thought.
December 2024 in “Veterinary Dermatology” A sugar glider had a rare skin cancer that worsened despite treatment, highlighting the need for thorough checks in exotic pets.