June 2020 in “Nihon Ika Daigaku Igakkai Zasshi” This study found that aPKCλ, but not aPKCζ, plays a critical role in maintaining hair follicle stem cell populations and promoting wound healing in the epidermis.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
4 citations
,
October 2024 in “Journal of Cosmetic Dermatology” This study found that taking oral FKH supplements for 90 days improved facial skin, hair, and nail appearance, and highlighted the role of free L-amino acids as potentially beneficial beyond their protein-building functions.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
35 citations
,
January 2008 in “American Journal of Clinical Dermatology” This case report further supports the association of keratosis follicularis spinulosa decalvans with acne keloidalis nuchae and tufted hair folliculitis.
5 citations
,
September 2017 in “Medicine” In this case report, a patient with Cronkhite-Canada Syndrome developed colon cancer and liver metastasis despite hormone therapy, highlighting the need for regular monitoring and early detection strategies.
7 citations
,
March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
March 1996 in “Hair transplant forum international” This article discusses the introduction and market presence of the Italian hair product Kevis but presents no new clinical findings.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
June 1996 in “Journal of Dermatological Science” March 2021 in “Arrow - TU Dublin (Technological University Dublin)” This study tested a folate-conjugate drug delivery system and found its cytotoxicity depends on whether the treated cells overexpress folate receptors, suggesting potential for targeted chemotherapy.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
3 citations
,
January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
6 citations
,
December 2015 in “Medicine” This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.
December 2023 in “Journal of dermatology” This study examined the clinicopathologic and trichoscopic characteristics of keratosis follicularis spinulosa decalvans and identified terminal hair involvement and follicular hyperkeratosis as key diagnostic features.
2 citations
,
January 2009 in “Human cell culture”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
54 citations
,
January 1983 in “Archives of Dermatology” This article presents two cases of keratosis follicularis spinulosa decalvans and reviews its features, highlighting characteristic progression from keratosis pilaris in infancy to cicatricial alopecia in childhood.
11 citations
,
January 2009 in “World Journal of Gastroenterology” This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.
September 2023 in “Family practice” This study found that among 52 classification tools on the Clinical Knowledge Summaries website, 46% lacked strong guidance for their use in managing conditions, suggesting that nearly half of the tools may not be useful for clinical decision-making.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
28 citations
,
February 2014 in “Journal of Cutaneous Pathology” In this study, researchers observed that keratoacanthoma exhibits dynamic follicular differentiation throughout its stages, with changes in specific keratin expressions, and regressed lesions showing epidermal rather than follicular characteristics.
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.
11 citations
,
November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
15 citations
,
April 2001 in “Journal of Dermatological Science” This study found that KF19418 stimulated hair follicle growth in vitro and accelerated hair regrowth in a mouse alopecia model, with effects comparable to minoxidil.
66 citations
,
April 1995 in “The journal of cell biology/The Journal of cell biology” In this study, researchers reported that a keratinocyte growth factor-Ig fusion protein could specifically detect and localize KGFRs in epithelial tissues, suggesting a method for histochemical detection of growth factor receptors.
24 citations
,
June 2015 in “Journal of Investigative Dermatology” This study observed that epidermal-specific deletion of aPKCλ in mice disrupts hair follicle stem cell quiescence, leading to altered hair follicle cycling and skin anomalies.