December 2025 in “Cureus” Avoiding friction and using topical treatments can significantly improve rough skin caused by repeated rubbing.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
21 citations
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February 1988 in “Toxicology” High doses of TCB cause severe health issues in marmoset monkeys.
1 citations
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January 2010 in “Türkiye klinikleri tıp bilimleri dergisi” A rare case showed hair regrowth after chemotherapy for thymoma, suggesting a link between alopecia areata and thymoma.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
11 citations
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November 2019 in “Clinical Case Reports” A Brazilian teenager with severe hair loss had total hair regrowth with no side effects after using tofacitinib.
June 2022 in “Journal of the turkish academy of dermatology” People with plantar corns and calluses may have a higher chance of having metabolic syndrome.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
28 citations
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June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
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.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
2 citations
,
March 2019 in “Veterinary dermatology” Thymoma in cats can cause hair loss without inflammation.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
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.
3 citations
,
May 2019 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.
3 citations
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January 2017 in “Journal of clinical and diagnostic research” Injecting steroids like Triamcinolone Acetonide for skin treatments can cause Cushing's Syndrome.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
August 2019 in “Journal of Dermatology” Woman with diabetes had hair loss due to rare ovarian tumor; surgery improved hair growth.
December 2023 in “JEADV Clinical Practice” A woman's hair grew back with baricitinib treatment, but she developed a temporary hairy tongue that was treated with regular tongue brushing.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.