5 citations
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August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
November 2006 in “Reactions Weekly” A woman's hair grew back after she stopped taking the Parkinson's disease medication pramipexole.
2 citations
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December 2019 in “The Open Dermatology Journal” Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
Individualized treatments may help manage Dercum's disease symptoms.
39 citations
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April 2009 in “Journal of Plastic Reconstructive & Aesthetic Surgery” The surgery for severe congenital ptosis in children is safe and effective, with good long-term results.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
Mutations in specific genes cause different types of ectodermal dysplasias.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
59 citations
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October 1976 in “Acta Neurologica Scandinavica” Sodium valproate reduced seizures in many patients with resistant epilepsy.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
18 citations
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August 2011 in “Medical Hypotheses” Physical inactivity is a primary cause of many human illnesses.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
13 citations
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January 1985 in “International Journal of Dermatology” The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
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.
April 2020 in “Journal of the Endocrine Society” A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
2 citations
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March 2023 in “Experimental neurology” Pregnenolone might help manage movement issues caused by Parkinson's disease treatment without reducing the medicine's effectiveness.
5 citations
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December 2016 in “Microscopy Research and Technique” EPI-NCSCs from hair follicles may help treat brain development issues in mice.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
2 citations
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January 2017 in “International Journal of Trichology” Trichoscopy can reveal specific hair and scalp changes in linear morphea.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
17 citations
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January 2014 in “Stem Cells Translational Medicine” Canine epidermal neural crest stem cells could be a promising treatment for spinal cord injuries in dogs.