4 citations
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October 2024 in “Journal of the American Academy of Dermatology” Abrocitinib may help treat alopecia areata effectively with mild side effects.
13 citations
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January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
50 citations
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May 1985 in “The journal of pediatrics/The Journal of pediatrics” Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
1 citations
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October 2022 in “International Journal of Molecular Sciences” Using healthy donor stem cells can potentially calm overactive immune cells and reduce inflammation in severe hair loss patients, offering a possible treatment method.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
The document concludes that the girl's hairlessness is likely inherited from her parents.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
11 citations
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January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
October 2004 in “Australian Prescriber” Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
3 citations
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May 2024 in “Amino Acids” Disrupted cysteine metabolism may cause hair breakage in Alopecia Areata, suggesting potential treatments like N-acetylcysteine.
130 citations
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January 2000 in “Nature biotechnology”
April 2022 in “Cermin Dunia Kedokteran” Accurate diagnosis and understanding of alopecia areata in children are crucial for proper treatment.
1 citations
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June 2018 in “International Journal of Dermatology” DNCB is highly effective for treating alopecia areata with minimal long-term side effects.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
7 citations
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September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
7 citations
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October 2024 in “Frontiers in Immunology” A humanized CXCL12 antibody may delay and treat alopecia areata by altering the immune response.
18 citations
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April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
16 citations
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January 2008 in “Acta dermato-venereologica” Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.