July 2011 in “Journal of Pediatric and Adolescent Gynecology” This report discusses a teenager with blistering of localized epidermolysis bullosa simplex—Weber Cockayne type, recommending referral to dermatology, and includes no new clinical trials or broader conclusions.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
39 citations
,
July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
61 citations
,
March 1966 in “Archives of Dermatology” This study found that nevoid basal cell carcinomas originate in the epidermis and upper hair follicles, resembling early nonnevoid basal cell carcinoma proliferations.
16 citations
,
November 2005 in “Journal of Clinical Pathology” This study found that CD1d is strongly expressed in human scalp skin and hair follicles, particularly in the anagen phase, suggesting a role in scalp immunology and potential implications for hair disorder treatment.
23 citations
,
November 2019 in “International Journal of Molecular Sciences” This study found that adipose-derived stem cells from HIV-infected patients with lipodystrophy associated with HAART demonstrated similar growth and differentiation potential as those from HIV-uninfected patients, suggesting potential for autologous regenerative therapy.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
August 2023 in “International Journal of Dermatology” This study used a Lebanese national registry to document dermatologic symptoms related to COVID-19 and its vaccines, noting that urticaria and telogen effluvium were common during infection, while urticaria and herpes zoster were notable post-vaccination.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
June 2018 in “Surgical Case Reports” S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
1 citations
,
May 2024 in “Dermatology Online Journal” In this case study, two middle-aged patients with pruritic scalp erosions were diagnosed with localized pemphigus vulgaris, which resolved without relapse after treatment with low-dose oral prednisone and intralesional triamcinolone acetonide.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
136 citations
,
March 1998 in “Oncogene” This study found that transgenic mice overexpressing E2F1 in their epidermis developed skin tumors, confirming in vivo that deregulated E2F1 activity can contribute to tumor development.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
1 citations
,
March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
10 citations
,
October 2015 in “Journal of the International Association of Providers of AIDS Care” This case report describes a severe form of HIV-associated pityriasis rubra pilaris in a dark-skinned woman that improved rapidly and sustainably with combination antiretroviral therapy, despite atypical presentation without significant erythroderma.
3 citations
,
January 2022 in “Journal of Infection” This article discusses intra-host single-nucleotide variants in SARS-CoV-2, highlighting their potential to inform on virus strain diversity, immune escape, and drug design, but it reports no new clinical results.
42 citations
,
August 1999 in “The American journal of pathology” This study found that basal cell carcinomas show strong expression of vitamin D receptors at both mRNA and protein levels, suggesting a potential role in tumor growth regulation.
1 citations
,
September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
7 citations
,
October 2020 in “Journal of The American Academy of Dermatology” This systematic review and meta-analysis found that hidradenitis suppurativa is associated with an increased risk of major adverse cardiac events, including cerebrovascular accidents and myocardial infarction, although study heterogeneity affects the magnitude of risk.
May 2021 in “Immunology and Infectious Diseases” This article discusses the effects of emerging and persistent viral infections on human health, emphasizing the importance of understanding host-pathogen interactions for vector control, but it reports no new clinical results.
16 citations
,
April 2000 in “Journal of Investigative Dermatology” The study reports that the AVET system showed higher efficiency in transfecting cultured human keratinocytes compared to SuperFect and PrimeFector, with AVET reaching levels of enzyme activity similar to normal cells in keratinocytes from lamellar ichthyosis patients.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
April 2019 in “Journal of Investigative Dermatology” In this report, the potential connection between Merkel cell carcinoma and Curvularia lunata infection in an elderly patient is discussed, highlighting the need for precise diagnostic methods and suggesting that surgery combined with the antifungal voriconazole may be a viable treatment option.
February 2020 in “Definitions” This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.
April 2023 in “Authorea (Authorea)” This case report describes the presentation of a 32-year-old Iranian immunocompetent female diagnosed with Merkel Cell Carcinoma, highlighting the importance of early diagnosis and management to mitigate complications.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.