110 citations
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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.
40 citations
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January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” Certain diets can affect skin conditions, but more research is needed to understand these relationships fully.
67 citations
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June 2019 in “Proceedings of the National Academy of Sciences” A new 3D culture system helps grow and study mouse skin stem cells for a long time.
2 citations
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July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
October 2025 in “Indian Journal of Dermatology” Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
52 citations
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June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
425 citations
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August 2002 in “BioEssays” The cornified cell envelope forms a protective barrier in skin and hair, using specific proteins and lipids to maintain effectiveness.
4 citations
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January 2012 in “Elsevier eBooks” The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
March 2019 in “Dermatologic Clinics” The document concludes that there have been significant advances in the treatment and diagnosis of various skin conditions.
13 citations
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July 2016 in “Pediatric Dermatology” Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
9 citations
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July 2021 in “Dermatology and Therapy” New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
9 citations
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
August 2023 in “Physician's journal of medicine” Hashimoto thyroiditis is an autoimmune disease that can lead to an underactive thyroid and is treated with medication and sometimes diet changes or surgery.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
1 citations
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January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
July 2023 in “The Egyptian Journal of Hospital Medicine ” Alopecia areata is a hair loss condition caused by immune factors and can be treated with JAK inhibitors.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.