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.
February 2024 in “International journal of medical science and clinical research studies” This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” This review discusses central serous chorioretinopathy, detailing its etiology, associated factors, diagnostic imaging, and therapeutic options, but provides no new clinical findings.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
September 2023 in “Journal of the American Academy of Dermatology” 4 citations
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April 2019 in “JAAD Case Reports” This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.
June 2026 in “British Journal of Dermatology” In this study, real-world data of 31 patients using ritlecitinib for severe alopecia areata showed that 51% achieved significant hair regrowth after one year, with no serious adverse events reported, emphasizing the importance of considering treatment duration for response.
13 citations
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November 2017 in “Journal of Cellular and Molecular Medicine” This workshop reviewed various roles of endoplasmic reticulum chaperones, including calreticulin, in cellular signaling, disease states, and potential markers, but reports no new experimental findings.
7 citations
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July 2017 in “Australasian Journal of Dermatology” This article evaluates reflectance confocal microscopy features of scalp melanoma but reports no new clinical results, suggesting further investigation is needed.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” This case report discusses a 27-month-old girl with vitamin D-dependent rickets type II, who showed minor improvement in skeletal features and alopecia after high-dose oral calcium and vitamin D3 treatment.
48 citations
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May 2019 in “Genome Biology” This study identified genetic, biological, and technical factors that influence circRNA expression in the human brain, connecting these factors to potential genetic risk for diseases like schizophrenia and type II diabetes.
This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.
1 citations
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December 2019 in “Acta Medica Medianae” This article discusses connubial contact dermatitis, emphasizing its frequent misrecognition and the importance of identifying and eliminating the underlying causes for effective treatment.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
6 citations
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December 2018 in “The American Journal of Dermatopathology” This study found that the presence of premature desquamation of the inner root sheath in noninflamed hair follicles is a relatively specific marker for diagnosing central centrifugal cicatricial alopecia.
June 2026 in “Dermatology and Therapy” This study reported that ritlecitinib was prescribed to a diverse group of patients with severe alopecia areata in the first 10 months after FDA approval, indicating its potential role in AA management.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
1 citations
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November 2025 in “American Journal of Clinical Dermatology” This study reports that long-term treatment with ritlecitinib is generally well tolerated for up to approximately five years in patients aged 12 and older with alopecia areata, with the safety profile aligning with previous data from the ALLEGRO clinical trials.
April 2025 in “Our Dermatology Online” This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
188 citations
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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.
This review highlights the increasing global incidence and broad socio-economic impact of celiac disease, emphasizing the need for improved recognition and management to address its multidimensional implications, including comorbidities and dietary challenges.
June 2026 in “British Journal of Dermatology” This study evaluated the real-world use of ritlecitinib for severe alopecia areata in the UK, reporting that 37% of patients achieved significant hair regrowth by week 36, with no serious adverse effects noted, although response varied with disease duration.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
25 citations
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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.