9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.
25 citations
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January 2004 in “The International Journal of Developmental Biology” This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new 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.
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.
33 citations
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June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
33 citations
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October 2013 in “PloS one” This study found that human sweat glands contain unique stem cells with significant multilineage differentiation potential and self-renewal abilities, suggesting promising clinical applications due to easy biopsy access.
12 citations
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January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
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.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
8 citations
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March 2025 in “Developmental Biology” Integumentary organs adapt and evolve for survival, with potential uses in regenerative medicine.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
80 citations
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September 2007 in “Cell Cycle” This study found that nestin-expressing cells in the hair follicle bulge exhibit multipotent stem cell-like properties and can generate neural cells both in vitro and in vivo.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but 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.
6 citations
,
October 2022 in “Frontiers in Physiology” This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.
3 citations
,
January 2002 in “Actas Dermo-Sifiliográficas” In this case report, a 23-year-old woman developed localized trichorrhexis nodosa after compulsively applying 3% minoxidil to her scalp for two months.
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.
10 citations
,
July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
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.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
May 2026 in “JID Innovations” This study found a significant overlap between gene expression signatures of alopecia areata and certain chronic inflammatory skin disorders, suggesting shared biological processes may drive their co-occurrence and providing a foundation for future research into distinct comorbid subtypes.
5 citations
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February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.