7 citations
,
November 2014 in “Histochemistry and Cell Biology” This study found that mutant mice with the we/we wal/wal genotype exhibit significant defects in hair shaft structure and epidermis stratification, correlating with postnatal alopecia symptoms.
7 citations
,
December 2013 in “The Journal of Dermatology” This article is a letter to the editor discussing hair graying and loss potentially induced by imatinib mesylate, but it does not provide new research results.
5 citations
,
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.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
2 citations
,
January 1998 in “Dermatology” Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.
1 citations
,
January 2014 in “International Journal of Trichology” This case report describes a 35-year-old woman with diffuse partial woolly hair occurring alongside epidermolysis bullosa with mottled pigmentation.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
December 2016 in “John Wiley & Sons, Ltd eBooks” This chapter reviews disorders of skin appendages including miliaria, acne, and alopecia, providing guidance on management and treatment but does not present new clinical findings.
11 citations
,
May 1998 in “Child's nervous system” This case report describes a 5-day-old male infant with a constellation of symptoms, including leptomeningeal angiomatosis, hair follicle nevus, and congenital alopecia, potentially representing a novel neurocutaneous syndrome.
November 2025 in “Frontiers in Immunology” This review integrates studies on mouse models and human clinical observations to highlight the role of immune cells in skin development and how their dysregulation leads to skin disorders, suggesting potential therapeutic pathways for skin regeneration.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” This article reviews the complex signaling pathways between epithelial and mesenchymal cells crucial for hair follicle morphogenesis, highlighting the Wnt pathway's role as a master regulator without reporting new experimental findings.
9 citations
,
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.
5 citations
,
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.
43 citations
,
December 2006 in “The American journal of pathology” This study found that Edar signaling plays a role in regulating the hair cycle and apoptosis in hair follicle keratinocytes during the catagen phase in mice.
31 citations
,
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.
January 2011 in “대한피부과학회지” This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.
86 citations
,
January 1996 in “Clinics in dermatology” This review discusses the effects of protein-based cosmetics on hair properties and reports no new research findings, suggesting potential benefits for developing advanced, sustainable hair products.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
April 2024 in “Diagnostics” In this study, researchers found that 68% of orthodontic patients with oligodontia displayed hair disorders, such as hypotrichosis and androgenetic alopecia, highlighting trichoscopy and trichogram as valuable diagnostic tools to distinguish between isolated and syndromic forms of the condition.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
132 citations
,
August 2008 in “Development” This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
4 citations
,
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.
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.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
25 citations
,
October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
51 citations
,
August 2012 in “Differentiation” This study found that penile and clitoral differentiation in mice is influenced by androgen exposure, with penile features developing postnatally requiring prenatal and ongoing androgen presence.
41 citations
,
September 2003 in “Journal of Investigative Dermatology” This study suggests that the COX-2 enzyme plays a role in hair follicle biology, as transgenic overexpression in mice induced hair follicle cycling disturbances and alopecia, which was mitigated by COX-2 inhibition.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.