6 citations
,
November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
56 citations
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February 2012 in “Developmental biology” This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.
4 citations
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April 1978 in “PubMed” This case study describes a six-month-old boy diagnosed with Netherton syndrome, featuring ichthyosiform erythroderma and alopecia, possibly linked to aminoaciduria.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
November 2025 in “Skin Health and Disease” This case series describes eight instances of autosomal recessive woolly hair in an Indian population over the past 12 years, detailing their clinical presentation, hair traits, and treatment response.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
81 citations
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September 2009 in “Birth defects research” This review discusses the mechanisms behind hair patterning during mouse embryonic development and reports no new experimental findings.
31 citations
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April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
3 citations
,
August 2018 in “Medical Journal Armed Forces India/MJAFI” In this study, IPL treatment for six months significantly reduced hair growth in females with faun tail nevus linked to spinal abnormalities.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
1 citations
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July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
13 citations
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July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
606 citations
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January 2016 in “International Journal of Cell Biology” This review outlines recent advances in stem cell and tissue engineering technologies in regenerative medicine and wildlife conservation, reporting no new clinical results.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
50 citations
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January 1986 45 citations
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January 1986 22 citations
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January 1990 16 citations
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March 2021 in “EvoDevo” This study found that zebrafish and sticklebacks, despite differences in their tooth regeneration structures, share a similar genetic program during tooth regeneration, suggesting a conserved "successional dental epithelium" in vertebrates.
15 citations
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June 2019 in “Experimental Dermatology” The authors suggest that the neuroendocrine system of the skin represents a promising target for repurposing drugs, such as cannabidiol and fingolimod, as topical treatments for inflammatory skin diseases.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.