4 citations
,
March 2009 in “British Journal of Dermatology” This article discusses the highlights and key topics from the 17th Congress of the European Academy of Dermatology and Venereology but reports no new results.
April 2025 in “Indian Dermatology Online Journal” This study describes how avian-inspired imagery is used in dermatology to help clinicians and patients identify and communicate skin conditions, using familiar terms like "chicken skin" and "fried egg" to capture specific visual patterns and clinical features.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
68 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
11 citations
,
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.
5 citations
,
January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” This case study presents an 81-year-old woman diagnosed with Cronkhite-Canada syndrome and discusses the importance of recognizing its clinical and histopathological features for timely and accurate diagnosis.
1 citations
,
January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
1 citations
,
August 2012 The document discusses various diseases of the outer ear, categorized by symptoms like redness, crusts, bumps, pus-filled lesions, lumps, ulcers, and hair loss.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
13 citations
,
April 2022 in “Frontiers in oncology” This review discusses the early phases of melanomagenesis and the factors influencing melanoma cell variability and reports no new clinical results.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
10 citations
,
February 2015 in “Clinics in Dermatology” This article discusses various periocular conditions like madarosis, milphosis, trichomegaly, and dermatochalasis, and highlights their potential link to underlying local and systemic diseases, but reports no new clinical findings.
4 citations
,
October 2012 in “Expert Review of Dermatology” Dermoscopy greatly improves melanoma diagnosis and reduces unneeded surgeries.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
This thesis explores how optical coherence tomography and advanced imaging methods may address clinical needs in fields like interventional pulmonology and dermatology, highlighting their potential for disease assessment and staging.
March 2013 in “Actas Dermo-Sifiliográficas” This review discusses recent advancements in dermatopathology, including molecular biology techniques and diagnostic innovations, and reports no new experimental findings.
January 1997 in “Journal of The American Academy of Dermatology” This book review discusses "Eye and Skin Disease" by Mannis, Macsai, and Huntley, highlighting its comprehensive examination of the interconnections between dermatologic and ophthalmologic conditions, valuable for both specialties.
532 citations
,
August 2011 in “Journal of the American Academy of Dermatology” This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
49 citations
,
June 2009 in “Seminars in Cutaneous Medicine and Surgery” This article examines differences in aging among ethnic populations and highlights cosmetic procedures specific to skin of color, but reports no new research findings.
32 citations
,
January 2007 in “KARGER eBooks” This review discusses severe insulin resistance syndromes, highlighting their diagnostic challenges, potential novel therapies like leptin replacement, and suggests metformin and lifestyle changes in its absence; no new clinical results are reported.
27 citations
,
October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
21 citations
,
August 2011 in “Clinics in Dermatology” This review discusses skin signs that can indicate systemic diseases and provides no new clinical results; it aims to aid physicians in diagnosing these conditions.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.