August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
21 citations
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March 2002 in “Neurology” Dopamine agonists like pramipexole and ropinirole can cause reversible hair loss.
63 citations
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February 2010 in “Journal of Neurophysiology” Microstimulation of certain facial and mouth nerves can evoke specific sensations, while deeper nerves may require multiple stimulations to affect perception.
September 2024 in “The Neurohospitalist” Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
2 citations
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January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
November 2025 in “Practical Neurology” Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
372 citations
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December 2004 in “Nature Genetics” 2 citations
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September 2019 in “Neurology Neuroimmunology & Neuroinflammation” IVIg treatment improved symptoms but caused permanent dark hair loss.
15 citations
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August 2010 in “Annals of saudi medicine/Annals of Saudi medicine” Hair tourniquet syndrome is a rare condition where hair wraps around an infant's body part, needing quick removal to prevent damage.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
December 2015 in “European Journal of Pediatric Dermatology” Newborns can experience temporary hair loss in bands, unrelated to sleeping position.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
12 citations
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January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
Defective protein folding due to a mutation is key in ANE syndrome.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
2 citations
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March 2022 in “Modern Rheumatology Case Reports” A medicine called tofacitinib worked to treat a hair loss condition linked with a muscle and skin disease.
January 2002 in “대한피부과학회지” Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
31 citations
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November 1991 in “Brain Research” Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
3 citations
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December 1967 in “Australasian Journal of Dermatology” Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
56 citations
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October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.
April 2016 in “Journal of Investigative Dermatology” Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.