This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
July 2025 in “Case Reports in Dermatology” This case report highlights that early signs like pili torti may precede lichen planopilaris in some patients, emphasizing the importance of timely intervention to prevent permanent hair loss.
January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
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.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
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.
September 1983 in “Journal of The American Academy of Dermatology” Experts discussed hair care, genetic hair defects, hair loss treatments, nail surgery, lupus treatments, skin infections, and cosmetic allergies.
15 citations
,
September 2007 in “Cell & tissue research/Cell and tissue research” This study suggests that human embryonic stem cells may improve skin graft quality and functionality by enabling the identification and amplification of early ectodermal progenitors, pending confirmation from preclinical studies.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
9 citations
,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This article discusses the use of dermoscopy for diagnosing hair and scalp disorders in children and reports no new clinical results.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
In this study, the authors emphasize the importance of accurately diagnosing congenital atrichia with papules—a condition marked by hair loss and papular skin lesions—differentiating it from other similar disorders to prevent unnecessary treatments and inform families about its benign but irreversible nature.
19 citations
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April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
109 citations
,
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.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
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.
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.
89 citations
,
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.
30 citations
,
August 1983 in “Pediatric Clinics of North America” Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
25 citations
,
November 2014 in “Ageing Research Reviews” This review discusses the mechanisms of skin aging, highlighting the roles of stem/progenitor cells, genetic and environmental factors, and suggests potential for cell-based therapies, but reports no new experimental findings.
1 citations
,
September 2015 in “Clinics in Dermatology” This article provides a diagnostic guide for clinicians to differentiate between various hair shaft disorders by using a structured question-by-question approach but does not report new clinical findings.
July 2018 in “Elsevier eBooks” This chapter details the causes and diagnostic process of pediatric alopecia, including trichoscopic findings, but reports no new clinical results.
2 citations
,
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.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
1 citations
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June 2023 in “Journal of Cellular and Molecular Medicine” This study observed that tissue-engineered skin, using VEGF165 gene-modified cells embedded in astragalus polysaccharide-containing 3D printed scaffolds, enhanced early vascularization, and collagen and hair follicle regeneration, leading to improved skin repair in nude mice with full skin defects.
36 citations
,
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
,
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.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
29 citations
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October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.