April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
14 citations
,
October 2001 in “British Journal of Ophthalmology” Corneal issues in pemphigus vulgaris may require surgery if medication is not followed.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
42 citations
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September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
1 citations
,
January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
January 2026 in “International Ayurvedic Medical Journal” Ayurvedic treatment improved hair loss in a 23-year-old male.
31 citations
,
December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
9 citations
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January 2018 in “International Journal of Trichology” A woman's hair loss from graft versus host disease helps understand similar hair loss conditions.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
2 citations
,
September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
September 2025 in “Annals of Plastic Surgery” Inverted follicular keratosis on the eyelid can be cured with surgery and has a great prognosis.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 17 citations
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March 1994 in “Pediatric Dermatology” Vitiligo and alopecia areata may share common causes.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.