April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
May 2017 in “Journal of The American Academy of Dermatology” A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
4 citations
,
December 1995 in “Anthropologischer Anzeiger” Family members have similar hair protein patterns, which could be useful for genetic studies.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
1 citations
,
February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
September 2009 in “Encyclopedia of Life Sciences” The KRTAP gene family helps understand hair evolution and hair disorders.
2 citations
,
January 2010 110 citations
,
November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
50 citations
,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
90 citations
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July 1993 in “Journal of Investigative Dermatology”
2 citations
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September 2021 in “Human Psychopharmacology: Clinical and Experimental” Valproate can cause hair problems, but there are ways to manage them.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
1 citations
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December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
1 citations
,
July 1990 in “PubMed” The document's conclusion cannot be determined from the provided text.
September 2025 in “Animals” The KRTAP22-2 gene in sheep does not significantly affect wool traits.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
June 2025 in “Rapid Communications in Mass Spectrometry” The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
138 citations
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November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
6 citations
,
August 2023 in “Journal of Investigative Dermatology”
February 2024 in “Folia Medica” Platelet-rich plasma treatment is effective for hair loss in patients regardless of their thyroid antibody levels.