8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
49 citations
,
September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
June 1987 in “Pediatric Neurology Briefs” Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
October 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Aging reduces hair cell size and function in mice, contributing to hearing loss.
2 citations
,
April 2022 in “Medicine” A Chinese boy's scalp infection from a guinea pig was cured with medication.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
August 2018 in “Journal of Investigative Dermatology” Centrosomes are essential for healthy skin and hair growth, and their role is different from that of cilia.
2 citations
,
July 1968 in “Experimental Biology and Medicine” Cystaselenonine causes temporary hair loss in mice by interfering with hair growth.
November 2016 in “The Molecular Biology Society of Japan”
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
118 citations
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August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by affecting hair follicles.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
July 2024 in “Journal of Investigative Dermatology” Linalool in fragrances may harm hair follicles and contribute to hair loss.
5 citations
,
September 2009 in “Acta Ophthalmologica” Hyper-keratinisation in Meibomian glands contributes to gland dysfunction.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
5 citations
,
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.
84 citations
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June 1970 in “Journal of Investigative Dermatology” April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
April 1977 in “Pediatric Research” 15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
30 citations
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May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
5 citations
,
June 2017 in “in Vivo” Vitamin C deficiency changes gene expression, affecting skin and hair health.