12 citations
,
January 2013 in “Indian Journal of Dermatology” This case report on a 13-year-old boy with monilethrix observed slight improvement after a two-month trial of oral N-acetyl cysteine, but overall hair density did not improve further.
This case report details the occurrence of paroxysmal nocturnal haemoglobinuria in a 19-year-old woman with systemic lupus erythematosus to raise clinician awareness of this rare association.
2 citations
,
January 2021 in “American Journal of Case Reports” This case report details a 13-year-old Thai boy with Hutchinson-Gilford progeria syndrome, who presented with cardiovascular complications, including coronary artery calcification and non-ST-segment elevation myocardial infarction.
December 2017 in “Canadian journal of ophthalmology” This paper reports a rare case of focal mucinosis in a 58-year-old woman's eyelid, initially resembling a nevus, successfully treated with surgical excision with no recurrence over a three-year follow-up.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
June 2026 in “Indian Dermatology Online Journal” In this case report, a 20-year-old man with a birthmark was identified as having a supernumerary nipple, a developmental anomaly, using dermoscopy to distinguish it from other pigmented skin lesions such as melanocytic nevus or basal cell carcinoma.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
April 2023 in “Journal of Investigative Dermatology” This study found that NIMP-R14-conjugated nanoparticles, loaded with roflumilast, effectively targeted neutrophils to reduce inflammation and improve symptoms in a mouse model of psoriasiform dermatitis, suggesting potential for targeted therapy in autoimmune skin diseases.
4 citations
,
October 2022 in “Cell Reports Physical Science” This study developed a novel mineralization strategy using metal-polyphenol coordination for dynamic control of nano-scale processes, enhancing hydrogels that support wound healing with antibacterial and angiogenesis-promoting properties.
1 citations
,
January 2013 in “The Journal of Dermatology” A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
1 citations
,
January 2017 in “ARC journal of dermatology” This study introduced and evaluated Ahmad's NPRT system for documenting hair loss, finding it helpful in assessing the specific state of male pattern baldness in 500 patients.
11 citations
,
June 2015 in “Scientific Reports” In this study of Han Chinese women, the mitochondrial DNA N haplogroup was associated with a higher risk of late-onset systemic lupus erythematosus and its specific manifestations, such as skin impairment and neurological disturbances.
April 2017 in “Journal of Investigative Dermatology” This study suggests that sirolimus and propranolol may reduce abnormal lymphatic endothelial cell proliferation in lymphatic malformations, potentially improving vessel function and patient outcomes.
9 citations
,
November 2007 in “Blood” This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.
21 citations
,
September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
August 2025 in “Macromolecular Bioscience” This study found that microneedles co-delivering minoxidil and a nitric oxide donor effectively promoted hair growth and follicle transition to the growth phase in an alopecia mouse model, suggesting a promising new approach for androgenetic alopecia treatment.
5 citations
,
April 1984 in “Archives of Dermatology” This article reviews the characteristics, causes, and types of porphyria cutanea tarda but presents no new findings, focusing instead on existing knowledge about the disorder.
January 2026 in “International Journal of Research and Innovation in Applied Science” This case report details a rare instance of malignant proliferating trichilemmal tumour in a 60-year-old male, emphasizing the significance of histochemical and immunohistochemical markers for accurate diagnosis and differentiation from squamous cell carcinoma.
1 citations
,
November 2022 in “Journal of Investigative Dermatology” This study found that ALRN-6924, a clinical-stage dual inhibitor, can selectively protect human scalp hair follicles from paclitaxel-induced toxicity and damage by inducing transient cell cycle arrest in healthy cells without affecting cancer cells, potentially reducing chemotherapy-induced alopecia.
56 citations
,
November 2003 in “Journal of Investigative Dermatology” This study identified altered expression of MMP-19 in the skin's epidermal layers during diseases like psoriasis and eczema, implying a role in disease processes.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
This study found that Ca²⁺ signaling and peptidylarginine deiminase enzymes play a crucial role in activating neural stem cells in response to injury in zebrafish, suggesting potential therapeutic targets for CNS injuries and cancer.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
9 citations
,
April 2006 in “International Journal of Dermatology” This article reviews the potential for α-difluoromethylornithine to help control hair growth and prevent cancer, but it does not present new clinical results.
June 2025 in “Journal of Cosmetic Dermatology” This case study reports that reducing scalp massage following minoxidil application and using mesenchymal stem cell exosomes led to significant improvement in hair condition for a patient with trichorrhexis nodosa.
2 citations
,
May 1979 in “PubMed” This report describes four cases of monilethrix in children and concludes that periodic inhibition of keratin synthesis, not a metabolic defect, may explain the hair abnormality.
11 citations
,
November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
18 citations
,
March 2006 in “Expert Review of Neurotherapeutics” This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.