January 2025 in “Indian Dermatology Online Journal” This case report highlights an unusual presentation of mycosis fungoides with photo-exacerbated lesions and a rare CD4+/CD8+ immunohistochemical phenotype, complicating diagnosis and treatment.
10 citations
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February 2022 in “JMIR Dermatology” This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.
May 2024 in “Indian Journal of Dermatology” In this case report, a 22-year-old female was diagnosed with follicular Dowling-Degos disease based on clinical and histological findings, with symptoms including skin lesions confined to hair follicles. The report emphasizes the importance of differentiating this rare variant from similar conditions for proper management.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
14 citations
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February 2003 in “Journal of the American Academy of Dermatology” This case report describes the first use of laser capture microdissection to confirm that atypical lymphocytes in a folliculotropic mycosis fungoides case involving the central nervous system were part of the same tumor clone.
December 2025 in “Cell Communication and Signaling” This study discovered that minoxidil affects hematopoiesis by downregulating wnt4, leading to suppression of hematopoietic stem and progenitor cells and alleviating MDS-like symptoms in zebrafish and mice, with hematologic safety achieved at optimized doses.
In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
1 citations
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January 2025 in “Regenerative Biomaterials” In this study, researchers found that exosomes derived from Pinctada martensii mucus can effectively inhibit melanin production in melanoma cells and zebrafish without adverse effects, potentially offering a promising therapeutic strategy for treating pigmentary disorders by modulating the NF-κB signaling pathway.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.
April 2018 in “Journal of Investigative Dermatology” This study suggests that for dermatomyositis patients with minimal skin disease activity, further improvement in cutaneous symptoms may not translate into better quality of life, highlighting a need to revise trial endpoints.
January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
11 citations
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December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
1 citations
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April 2014 in “Journal of the American Geriatrics Society” This case report highlights the diagnostic challenge of mycosis fungoides, which was initially misdiagnosed as psoriasis in an elderly woman, emphasizing the need for careful evaluation of persistent skin conditions.
2 citations
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February 2024 in “Journal of the European Academy of Dermatology and Venereology” This study resulted in a draft version of the Patient‐Reported Impact of Dermatological Diseases measure, PRIDD, which includes 27 items refined from patient consensus and is now undergoing psychometric testing.
January 2022 in “Indian journal of paediatric dermatology” This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.
1 citations
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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.
May 2021 in “Medicina internă” This case report highlights a 31-year-old male with Adult Onset Still Disease, whose symptoms, including high fever, responded only to pulse-therapy with Methylprednisolone after failing to improve with usual treatments.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
2 citations
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May 2023 in “International Journal of Molecular Sciences” This study developed a two-step diagnostic model using transcriptome biomarkers from hair follicles to improve the accuracy of methamphetamine use disorder diagnosis, achieving high prediction accuracy in distinguishing non-recovered and almost-recovered patients from healthy controls.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” This study found that cupric chloride treatment may partially correct delayed maturation and abnormal arborization of Purkinje cells in the cerebellum of hemizygous brindled mice, a model for Kinky hair disease.
18 citations
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February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
10 citations
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September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
January 2025 in “Journal of Case Reports and Scientific Images” In this case report, a 65-year-old woman was diagnosed with folliculotropic mycosis fungoides after experiencing scarring alopecia and intense pruritus, highlighting the importance of early diagnosis due to its aggressive nature.
June 2023 in “Romanian Medical Journal” In this case study, a 53-year-old female with multiple autoimmune symptoms was diagnosed with Mixed Connective Tissue Disease, confirmed by specific antibodies, and showed significant clinical improvement after one year of treatment.
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.