November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
May 2017 in “InTech eBooks” This chapter reviews types and causes of hair loss in children and suggests a diagnostic approach for identifying and treating this condition, but it reports no new clinical results.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
November 2003 in “Journal of Investigative Dermatology” This article includes summaries of multiple studies on dermatological topics like Imiquimod's effects on tumors, vitamin C absorption enhancement, and ferritin levels in hair loss, but reports no new results itself.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
43 citations
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February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
4 citations
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January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” In this study, HED patients with COVID-19 showed a higher risk of postinfection fatigue and hair loss compared to controls, suggesting they are more susceptible to long-term consequences of SARS-CoV-2 infection.
January 2026 in “Acta Dermato Venereologica” This source reports that four weeks of dupilumab treatment led to notable improvement in skin lesions, including multiple erythematous patches and papules on the face, back, and limbs.
July 2024 in “Journal of Dermatological Treatment” In this case report, a 6-year-old boy with hidrotic ectodermal dysplasia 2 caused by GJB6 mutations showed no significant hair improvement with age, despite treatment with botanical extracts and Minoxidil.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.
February 2010 in “Journal of the American Academy of Dermatology” This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
49 citations
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January 2003 in “American Journal of Clinical Dermatology” This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.
25 citations
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May 2013 in “Journal of mammary gland biology and neoplasia” This review examines the roles of Hedgehog and Gli proteins in mouse embryonic mammary development and suggests that Gli3-repressor-mediated off-state of Hedgehog signaling determines mammary fate over hair follicle fate.
6 citations
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November 1988 in “Journal of the American Academy of Dermatology” The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
36 citations
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March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
22 citations
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July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
22 citations
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June 2020 in “iScience” This study found that disrupting Sox21 in developing teeth leads to severe enamel hypoplasia, regional osteoporosis, and abnormal hair formation, with impaired dental epithelial differentiation and regulation of hair follicle cell fate.
23 citations
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January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
26 citations
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July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
12 citations
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January 2023 in “Indian Dermatology Online Journal” This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
2 citations
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January 2014 in “Indian dermatology online journal” This report describes a case of isolated congenital atrichia combined with nevus flammeus.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
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.
2 citations
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September 2004 in “Experimental Dermatology” This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.