50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
10 citations
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April 2013 in “Veterinary dermatology” A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
34 citations
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April 2016 in “International Journal of Dermatology” Trichoscopy is a useful method for identifying primary cicatricial alopecias and their specific types.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
16 citations
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May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
Roaccutane can cause severe liver damage.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
39 citations
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April 2001 in “Journal of The American Academy of Dermatology” Latanoprost, a glaucoma medication, caused excessive eyelid hair growth in many patients.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
2 citations
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August 2025 in “Reports — Medical Cases Images and Videos” A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
5 citations
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August 2015 in “British journal of dermatology/British journal of dermatology, Supplement” The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
7 citations
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October 2024 in “Journal of the American Academy of Dermatology” Continued ritlecitinib treatment helps sustain hair regrowth in alopecia areata patients.
18 citations
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September 1994 in “Clinical and Experimental Dermatology” Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
October 1967 in “Archives of Dermatology” A 42-year-old woman had a scalp lesion that didn't cause hair loss and showed specific changes under a microscope.
1 citations
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February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
20 citations
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April 2011 in “British Journal of Dermatology” Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
11 citations
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March 2016 in “Journal of the European Academy of Dermatology and Venereology” Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
1 citations
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November 1987 in “Journal of The American Academy of Dermatology” Isotretinoin can raise CPK levels, so patients need monitoring, especially before surgery.
January 2018 in “Skin appendage disorders” A woman's hair loss was correctly diagnosed as Lichen planopilaris after initial misdiagnosis, highlighting the usefulness of trichoscopy in diagnosing hair disorders.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.