150 citations
,
October 2010 in “The American Journal of Pathology” This review discusses the pathogenesis and challenges in treating primary cicatricial alopecia, highlighting the need to understand immune protection collapse in hair follicle stem cells; it reports no new clinical results.
138 citations
,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.
126 citations
,
January 1987 in “Journal of The American Academy of Dermatology” This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.
95 citations
,
February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
43 citations
,
November 2007 in “Dermatologic Clinics” This article discusses various hair and nail abnormalities linked to paraneoplastic conditions and cancer treatments, emphasizing their potential role in diagnosing and managing internal malignancies and reports no new clinical findings.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
37 citations
,
July 2005 in “Journal of The American Academy of Dermatology” This article reviews the clinicopathologic features of short anagen syndrome in a child and suggests diagnostic methods like clinical examination and scalp hair growth rate measurement, without reporting new clinical results.
33 citations
,
September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
30 citations
,
September 2017 in “Clinics in Dermatology” This article reviews the clinical and histological features of acanthosis nigricans and its associations with insulin resistance and other conditions, but highlights the need for more research on its classification, severity assessment, and treatment options.
28 citations
,
April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
18 citations
,
December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
13 citations
,
December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
9 citations
,
July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
6 citations
,
April 2017 in “InTech eBooks” This book discusses various unanswered questions about headaches, including genetic factors, smartphone effects, and botulinum toxin's potential benefits for chronic migraines, but reports no new clinical findings.
5 citations
,
May 2021 in “BMC surgery” This report of a rare case describes cutis verticis gyrate secondary to cerebriform intradermal nevus, emphasizing individualized treatment plans based on patient preference and condition severity.
3 citations
,
September 2021 in “Experimental and Therapeutic Medicine” This study described the clinical characteristics of keratosis pilaris atrophicans faciei in 14 patients, noting that earlier diagnosis may enable more targeted treatment options.
3 citations
,
July 2004 in “SKINmed/Skinmed” This case study describes a 4-year-old girl's diagnosis of erythrokeratodermia variabilis despite various ineffective treatments, highlighting a rare skin condition with persistent symptoms.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.