45 citations
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March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
3 citations
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February 2022 in “Journal of the American Academy of Dermatology” This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.
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.
12 citations
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November 2003 in “Journal of the American Academy of Dermatology” This study found hair regrowth in the majority of AA-affected mice and rats treated with diphencyprone, suggesting its potential utility for understanding human alopecia areata and the drug's therapeutic action.
3 citations
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January 2021 in “Minia Journal of Medical Research” This study observed that a single intraperitoneal injection of cyclophosphamide caused significant destruction of the intestinal mucosa in albino rats.
In this case report, a 25-year-old female with Mixed Connective Tissue Disease presented unusual symptoms in a specific geographical region, prompting clinicians to approach diagnosis and management with caution due to potential severe complications such as pulmonary hypertension and renal crisis.
20 citations
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September 2013 in “Anti-Cancer Drugs” In this study, PTH-CBD effectively prevented and partially reversed chemotherapy-induced alopecia in mice, with pretreatment offering a better cosmetic outcome compared to therapeutic administration after hair loss onset.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
September 2025 in “Cermin Dunia Kedokteran” This review highlights the importance of implementing dementia screening and cognitive evaluation in primary care to better prepare healthcare providers for managing cognitive impairment in the aging population.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
14 citations
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September 1998 in “Journal of Pediatric Gastroenterology and Nutrition” This case study describes a 15-year-old girl with pulmonary Crohn's disease diagnosed via endoscopy, highlighting the potential for endobronchial changes in children with this condition.
March 2024 in “Stem cell research & therapy” This study found that conditioned medium from human dental pulp stem cells (particularly under hypoxic conditions) improved keratinocyte survival and hair regrowth in a chemotherapy-induced alopecia mouse model and did not promote tumor growth, suggesting potential for safe therapeutic use.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
January 1983 in “Journal of the Japan Veterinary Medical Association” This case study of a toy poodle with Cushing syndrome found that after unsuccessful initial treatments, hair growth and symptom alleviation occurred following daily administration of o,p'-DDD, despite initial side effects.
This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
56 citations
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January 2004 in “Journal of the American Academy of Dermatology” This case report describes a 34-year-old kidney transplant patient who developed a unique skin condition linked to cyclosporine, characterized by flesh-colored papules, and introduces "cyclosporine induced folliculodystrophy" as a term for this condition.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
27 citations
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August 2008 in “Mayo Clinic proceedings” This review discusses the diagnosis, management, and treatment options for peripheral arterial disease and does not report new clinical findings; the authors emphasize the need for early diagnosis and comprehensive management.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
36 citations
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May 2005 in “BMC dermatology” This study found that topical diphenylcyclopropenone was effective in treating severe alopecia areata but had a high relapse rate and was often accompanied by side effects like eczema and lymphadenopathy.
January 2018 in “Journal of Investigative Dermatology” This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.
December 2025 in “Reports — Medical Cases Images and Videos” This case report highlights the rarity and complex differential diagnosis of discoid lupus erythematosus, emphasizing that immunosuppressive therapy in such cases can lead to serious complications like pulmonary tuberculosis.
18 citations
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January 1999 in “CNS Drugs” This review discusses challenges in managing cutaneous drug reactions to anticonvulsants and reports no new clinical findings; the authors emphasize the complexity of discontinuing or rechallenging suspected agents.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that baricitinib can counteract the cytokine-driven reduction of the enzyme PADI1 in human keratinocytes, which may help improve skin barrier function in atopic dermatitis by enabling epidermal differentiation.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.