28 citations
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March 1986 in “The American journal of medicine” This study presented two cases of chronic hypervitaminosis A in adults, highlighting the first reported instance of hepatic cirrhosis due to long-term beef liver consumption.
July 2023 in “The Keio Journal of Medicine” In this review, researchers highlighted the prevalence of hereditary hair diseases in the Japanese population, emphasizing the significant impact of LIPH gene variants on autosomal recessive woolly hair and the importance of continued research to better diagnose and manage these disorders.
1 citations
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March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
January 2023 in “Indian Dermatology Online Journal” This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.
1 citations
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January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
October 2017 in “The American Journal of Gastroenterology” This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.
5 citations
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June 2012 in “PubMed” This article discusses leukocytoclastic vasculitis, particularly its triggers, manifestations, and treatments, and reports no new experimental results; the authors highlight valproic acid's association with this condition.
36 citations
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June 2021 in “Experimental & Molecular Medicine” This study found that mechanical stress activates a WISP-1/Hedgehog signaling axis that contributes to ligamentum flavum hypertrophy and fibrosis, identifying Hedgehog signaling as a potential therapeutic target.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” This report describes a case where oral valganciclovir treatment led to improved skin texture and hair regrowth in a patient with trichodysplasia spinulosa.
December 2025 in “Clinical Case Reports” In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.
10 citations
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August 2016 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This study found that nail abnormalities, particularly longitudinal ridging, were more frequent in vitiligo patients (78%) compared to healthy controls (55%).
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
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.
88 citations
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August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
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.
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.
9 citations
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February 2002 in “PubMed” This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.
27 citations
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October 2002 in “International Journal of Dermatology” This study presents a microscopic analysis of the pruritic variant of trichostasis spinulosa in two patients and reviews existing literature, reporting no new clinical results.
January 2010 in “Life Science Alliance” This study found that in Vdr-knockout mice, hair follicles fail to complete the catagen stage, leading to persistent epithelial strands and subsequent hair loss.
31 citations
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January 2016 in “Skin Appendage Disorders” This study observed two cases of frontal fibrosing alopecia developing on preexisting vitiligo, suggesting a potential causal link between the two conditions.
2 citations
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January 2019 in “Springer eBooks” This review discusses segmental vitiligo as part of the vitiligo clinical spectrum and highlights its role as a model for studying repigmentation, but reports no new clinical results.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
6 citations
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October 2001 in “British Journal of Ophthalmology” This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.
April 2024 in “Skin research and technology” This study suggests that valine and certain VLDL subfractions are positively associated with androgenetic alopecia risk, while reverse analysis showed AGA does not affect these metabolites.