18 citations
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January 2011 in “International journal of trichology” Hair casts, also called pseudonits, are often mistaken for other conditions.
1 citations
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August 2024 in “JAAD Case Reports” Tick bites can cause hair loss similar to alopecia areata, and baricitinib may help regrow hair.
Equine Cushing's disease in horses causes hormonal imbalance, leading to symptoms like abnormal hair growth and requires lifelong treatment with pergolide.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
9 citations
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November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
3 citations
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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.
October 2022 in “Pakistan Journal of Medicine and Dentistry” Skin conditions can indicate underlying metabolic issues.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
November 2024 in “Rheumatology Advances in Practice” Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
6 citations
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January 2013 in “Journal of Veterinary Medical Science” The dog's skin and anemia issues returned after stopping treatment for Babesia gibsoni.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
8 citations
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August 2013 in “Pediatric Dermatology” Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
5 citations
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January 2021 in “Indian Journal of Pathology and Microbiology” A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
May 2025 in “The Journal of Rheumatology” Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
1 citations
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July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
July 2025 in “Dermatology Reports” Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
August 2017 in “Journal of pediatric surgery case reports” A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
7 citations
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October 2012 in “S. Karger AG eBooks” Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.