November 2025 in “Pediatric Dermatology” The boy's hair fully regrew after treatment for a rare hair loss condition.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
May 2023 in “Hair transplant forum international” A combined surgical approach by different specialists can effectively treat large birthmarks on the scalp.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
276 citations
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January 2005 in “International review of cytology” More research is needed to understand how hair keratins work and their role in hair disorders.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
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.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
30 citations
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June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
4 citations
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November 2015 in “Aesthetic Plastic Surgery” Using tissue expanders for scalp reconstruction in patients with extensive Aplasia Cutis Congenita is effective and has minimal complications.
1 citations
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February 2004 in “Journal of The European Academy of Dermatology and Venereology” Hair loss improved with treatment and successful transplant.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
September 2009 in “Hair transplant forum international” A committee was formed to improve hair restoration for certain hair diseases by collecting and analyzing data.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
67 citations
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September 2003 in “Plastic and Reconstructive Surgery” Micrografts and minigrafts are safe and effective for hair transplantation in facial and scalp reconstruction, providing high patient satisfaction.
23 citations
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July 1982 in “International Journal of Dermatology” The review concludes that accurate diagnosis of different types of hair loss requires proper biopsy techniques and understanding the hair growth cycle and underlying causes.
7 citations
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May 1978 in “International Journal of Dermatology” Recent hair loss research shows some progress, especially in understanding male pattern baldness, but effective treatments for many types of hair loss are still lacking.
1 citations
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February 2019 in “PubMed” Minoxidil is effective in treating various types of hair loss and can improve quality of life, with combination therapies showing increased effectiveness.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.