April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
37 citations
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June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
26 citations
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September 1969 in “The American journal of medicine” This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.
November 2019 in “European journal of internal medicine” This report documents a case of Cronkhite-Canada Syndrome in a 56-year-old Laotian man, who successfully improved with vitamin supplementation and medical treatment after experiencing weight loss, alopecia, and gastrointestinal polyposis.
19 citations
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April 2015 in “Developmental Dynamics” This study reports that dynamic interactions between stem cells and their niche, influenced by macro-environmental factors, regulate regenerative behavior in integument pattern formation.
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.
4 citations
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November 2020 in “Acta Dermato Venereologica” In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” This study found that hairless dog breeds have adapted to maintain normal body and core temperatures through structural changes like a thicker epidermis and the role of melanin in thermoregulation, with genetic mechanisms involving the FOXI3 gene governing hairlessness.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
21 citations
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April 2004 in “Australasian Journal of Dermatology” This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
8 citations
,
March 2025 in “Developmental Biology” Integumentary organs adapt and evolve for survival, with potential uses in regenerative medicine.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
75 citations
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January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
49 citations
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April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
6 citations
,
February 2012 in “American Journal of Animal and Veterinary Sciences” This review summarizes major growth factors that promote hair follicle growth, but it reports no new experimental findings.
6 citations
,
August 1991 in “Pediatric Clinics of North America” This article reviews common scalp and hair disorders in children and adolescents and outlines diagnostic approaches, but reports no new clinical findings.
1 citations
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December 2023 This study explored the complex developmental processes of human hair, emphasizing the intricate interactions required for hair follicle morphogenesis and its implications for drug incorporation and concentration interpretation, particularly in early childhood.
1 citations
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July 2023 in “Communications biology” In this study, researchers found that deleting Med1, a key epigenetic regulator in dental epithelia, led to hair growth on mouse incisors by altering enhancer landscapes and causing a switch from dental to hair lineage transcription programs.
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.
This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.
June 1997 in “Australasian Journal of Dermatology” This article discusses hair and nail research contributions in dermatology but reports no new clinical findings.
86 citations
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December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
August 2013 in “Gastroenterology” This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
13 citations
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December 2001 in “Dermatologic therapy” This review discusses the clinical presentations of alopecia areata, introduces guidelines for treatment studies, and explores potential changes in cutaneous innervation, but reports no new clinical results.
January 2024 in “Archives of pharmacy practice” This study reviews the embryological origins, anatomical and histological structure, and key functions of the skin, emphasizing its protective, sensory, and regulatory roles, as well as the social and psychological impacts of post-lesion changes.
9 citations
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February 2023 in “Medicine” This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.