A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
April 2016 in “Journal of the American Academy of Dermatology” Treatment improved some symptoms but not all.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
June 2023 in “British Journal of Dermatology” Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
5 citations
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July 2009 in “Clinical and experimental dermatology” February 2026 in “Immunity Inflammation and Disease” Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
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.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
Mutations in specific genes cause different types of ectodermal dysplasias.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
97 citations
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January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
37 citations
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September 2005 in “Australasian Journal of Dermatology” A man with scalp and neck skin issues improved after a year of oral isotretinoin.
34 citations
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July 2013 in “Clinical Cosmetic and Investigational Dermatology” Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.
31 citations
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March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
March 2004 in “Journal of the American Academy of Dermatology” Middle-aged women with cicatricial alopecia/lichen planopilaris responded well to treatments like ketoconazole shampoo and steroids.
27 citations
,
May 2004 in “Journal of Investigative Dermatology”
November 2024 in “Medicina” Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
32 citations
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March 1988 in “International Journal of Dermatology” Retinoids can help treat skin disorders by improving the skin's outer layer.
44 citations
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March 1991 in “International Journal of Dermatology” Prompt treatment of inflammatory tinea capitis (kerion) is crucial to prevent scarring and hair loss.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.