keyword
https://read.qxmd.com/read/38506523/speech-and-language-development-hearing-and-feeding-in-patients-with-genetically-confirmed-crouzon-syndrome-with-acanthosis-nigricans-a-36-year-longitudinal-retrospective-review-of-patients-at-the-oxford-craniofacial-unit
#1
JOURNAL ARTICLE
Sarah Kilcoyne, Paula Scully, Sarah Overton, Sally Brockbank, Gregory P L Thomas, Rosanna C Ching, Jayaratnam Jayamohan, James D Ramsden, Jon Jones, Andrew O M Wilkie, David Johnson
OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is caused by the specific mutation c.1172C>A (p.Ala391Glu) in the fibroblast growth factor receptor 3 gene, and has an estimated prevalence of 1:1,000,000 births. Most cases occur de novo; however, autosomal dominant inheritance may occur. The clinical presentation typically includes craniosynostosis, midface and maxillary hypoplasia, choanal atresia/stenosis, hydrocephalus, and intracranial hypertension. Patients develop acanthosis nigricans, a hyperkeratotic skin disorder...
March 20, 2024: Journal of Craniofacial Surgery
https://read.qxmd.com/read/38481246/analysis-of-disease-characteristics-of-a-large-patient-cohort-with-congenital-generalized-lipodystrophy-from-the-middle-east-and-north-africa
#2
JOURNAL ARTICLE
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel
BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment. METHODS: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity...
March 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38461278/case-report-glycaemic-management-and-pregnancy-outcomes-in-a-woman-with-an-insulin-receptor-mutation-p-met1180lys
#3
JOURNAL ARTICLE
Mairéad T Crowley, Eirena Goulden, Begona Sanchez-Lechuga, Aileen Fleming, Maria Kennelly, Ciara McDonnell, Maria M Byrne
BACKGROUND: Heterozygous insulin receptor mutations (INSR) are associated with insulin resistance, hyperglycaemia and hyperinsulinaemic hypoglycaemia in addition to hyperandrogenism and oligomenorrhoea in women. Numerous autosomal dominant heterozygous mutations involving the INSR β-subunit tyrosine kinase domain resulting in type A insulin resistance have been previously described. We describe the phenotype, obstetric management and neonatal outcomes in a woman with type A insulin resistance caused by a mutation in the β-subunit of the INSR...
March 10, 2024: Clinical Diabetes and Endocrinology
https://read.qxmd.com/read/38452868/proceedings-of-the-annual-meeting-of-the-european-consortium-of-lipodystrophies-eclip-pisa-italy-28-29-september-2023
#4
Giovanni Ceccarini, Baris Akinci, David Araujo-Vilar, Marianna Beghini, Rebecca J Brown, Juan Carrion Tudela, Valeria Corradin, Bruno Donadille, Jose Jerez Ruiz, Isabelle Jeru, Giovanna Lattanzi, Margherita Maffei, George David McIlroy, Estelle Nobécourt, Naca Perez de Tudela, Justin Rochford, Rebecca Sanders, Julia von Schnurbein, Daniel Tews, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Ferruccio Santini
Lipodystrophic syndromes are rare diseases affecting primarily the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, causing in most of the cases reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmune and iatrogenic mechanisms, many subtypes are now recognized and classified but the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes...
March 5, 2024: Annales D'endocrinologie
https://read.qxmd.com/read/38362706/comparison-of-efficacy-and-safety-of-tretinoin-0-05-and-glycolic-acid-peeling-70-in-axillary-and-neck-lesions-of-acanthosis-nigricans-a-single-blinded-randomized-trial
#5
JOURNAL ARTICLE
Maryam Ghiasi, Rana Samii, Nasim Tootoonchi, Kamran Balighi, Sama Heidari
BACKGROUND: Acanthosis nigricans is a non-inflammatory skin pigmentary disorder characterized by a dark, velvety appearance, primarily observed in the neck and axillary areas. It is commonly associated with obesity, diabetes, and insulin resistance. Although the primary treatment is correcting the underlying disorders, many aesthetic modalities have been established to improve appearance owing to cosmetic concerns. AIMS: We aimed to compare and investigate the effectiveness and side effects of tretinoin 0...
February 16, 2024: Journal of Cosmetic Dermatology
https://read.qxmd.com/read/38358168/utility-of-acanthosis-nigricans-and-skin-tags-as-a-screening-tool-for-risk-of-developing-noncommunicable-diseases-a-cross-sectional-study-at-a-health-facility-in-lucknow-india
#6
JOURNAL ARTICLE
Sumeet Dixit, Aditya Chandra, Peeyush Kariwala, Beena Sachan, Bhanu Pratap Singh, Anurag Pathak, Arvind K Singh, S D Kandpal
CONTEXT: Over the past three decades, there has been a significant rise in the prevalence of noncommunicable diseases (NCDs) globally, accompanied by a relative decline in communicable diseases. AIMS: With this background, the research was planned to determine the prevalence of acanthosis nigricans (AN) or skin tags (STs) in the study population and to examine the relationship between the presence of AN and ST with commonly used indicators such as waist-to-height ratio (W/Ht...
2024: Annals of African Medicine
https://read.qxmd.com/read/38344024/oral-malignant-acanthosis-nigricans-an-early-diagnostic-sign-for-ovarian-carcinoma-a-case-report
#7
Yang Liu, Xiaoli Wu, Siting Chen, Wenxia Meng
Acanthosis nigricans (AN) is a dermatological condition characterised by the symmetrical development of velvety, hyperpigmented plaques predominantly in intertriginous areas such as the axillae, neck, inframammary regions, and groin. The malignant variant of AN is frequently associated with internal malignancies, particularly gastric adenocarcinoma, accounting for 55-61% of cases. Patients exhibiting characteristic skin lesions are commonly initially evaluated in dermatology departments. This case report details a rare instance of a patient diagnosed with malignant acanthosis nigricans, presenting with only a mild form of florid oral papillomatosis concomitant with ovarian carcinoma...
2024: Clinical, Cosmetic and Investigational Dermatology
https://read.qxmd.com/read/38289143/type-a-insulin-resistance-syndrome-due-to-a-novel-heterozygous-c-3486_3503del-p-arg1163_ala1168del-insr-gene-mutation-in-an-adolescent-girl-and-her-mother
#8
Serkan Bilge Koca, Melike Ataseven Kulali, Başak Göğüş, Hüseyin Demirbilek
Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother.The index case was a 12-year-old girl without obesity who presented with excessive hair growth, especially in the chest and back area, and hyperpigmentation on the back of the neck (acanthosis nigricans). Acanthosis nigricans was first observed at the age of 11 years. On physical examination, the patient had acanthosis nigricans and hypertrichosis with no acne...
January 29, 2024: Archives of Endocrinology and Metabolism
https://read.qxmd.com/read/38281964/exploring-the-association-of-esr1-and-esr2-gene-snps-with-polycystic-ovary-syndrome-in-human-females-a-comprehensive-association-study
#9
JOURNAL ARTICLE
Fatima Muccee, Naeem Mahmood Ashraf, Suhail Razak, Tayyaba Afsar, Nadia Hussain, Fohad Mabood Husain, Huma Shafique
BACKGROUND: Polycystic Ovary Syndrome (PCOS) affects a significant proportion of human females worldwide and is characterized by hormonal, metabolic, and reproductive dysfunctions, including infertility, irregular menstrual cycles, acanthosis nigricans, and hirsutism. Mutations in the estrogen receptor genes ESR1 and ESR2, involved in normal follicular development and ovulation, can contribute to development of the PCOS. The present study focuses on investigating the potential correlation between single nucleotide polymorphisms (SNPs) of ESR1 and ESR2 genes and the incidence of this syndrome...
January 29, 2024: Journal of Ovarian Research
https://read.qxmd.com/read/38253899/efficacy-and-safety-of-lasers-versus-topical-medications-for-acanthosis-nigricans-and-pseudo-acanthosis-nigricans-treatment-a-systematic-review
#10
REVIEW
Yekta Ghane, Nazila Heidari, SeyedAyin Hosseini, Amirhossein Heidari, Homayoun Pishraft-Sabet, Sara Eghbali, Azadeh Goodarzi
Acanthosis nigricans (AN) is a cutaneous disorder identified by well-defined pigmented plaques mostly detected on skin folds. Timely diagnosis and treatment of AN is essential as it could be an early manifestation of an underlying condition. The treatment of choice for AN has not been determined yet. Our study aimed to compare the efficacy and safety of various lasers with topical medications, including cream and peel. PubMed, Scopus, and Web of Science databases, as well as the Google Scholar search engine, were thoroughly searched until May 1st, 2023...
January 23, 2024: Lasers in Medical Science
https://read.qxmd.com/read/38245384/acanthosis-nigricans-independently-predicts-hepatic-fibrosis-in-people-with-type-2-diabetes-in-north-india
#11
JOURNAL ARTICLE
Koel Dutta, Surya Prakash Bhatt, Swati Madan, Irshad Ahmad Ansari, Kanika Tyagi, Shivam Pandey, Anoop Misra
BACKGROUND: Acanthosis nigricans (AN) is a skin condition characterized by hyperpigmentation and thickening, often found in individuals with insulin resistance. Despite this well-established association, the potential link between AN and hepatic fibrosis in people with type 2 diabetes (T2D) has yet to be thoroughly explored. METHODOLOGY: We recruited a total of 300 people with T2D, half of whom had AN (n, 150), and the other half without AN (n, 150). We evaluated body composition, biochemistry, and hepatic fat analysis (using the controlled attenuation parameter, CAP), as well as assessments of hepatic stiffness (using the kilopascal, kPa) using Fibroscan...
January 19, 2024: Primary Care Diabetes
https://read.qxmd.com/read/38240751/phenotype-and-predictors-of-insulin-independence-in-adults-presenting-with-diabetic-ketoacidosis-a-prospective-cohort-study
#12
JOURNAL ARTICLE
Peter J Raubenheimer, Joanna Skelton, Bukiwe Peya, Joel A Dave, Naomi S Levitt
AIMS/HYPOTHESIS: The aim of this work was to describe the phenotype of adults presenting with a first episode of diabetic ketoacidosis (DKA) in Cape Town, South Africa, and identify predictors of insulin independence at 12 and 60 months after presentation. METHODS: A prospective, descriptive cohort study of all individuals, 18 years or older, presenting for the first time with DKA to four public-sector hospitals of the Groote Schuur Academic Health Complex was performed...
January 19, 2024: Diabetologia
https://read.qxmd.com/read/38213910/distinct-reproductive-phenotypes-segregate-with-differences-in-body-weight-in-adolescent-polycystic-ovary-syndrome
#13
JOURNAL ARTICLE
Angie Chen-Patterson, Angelina Bernier, Tania Burgert, Vanessa Davis, Tazeena Khan, David Geller, Emily Paprocki, Rachana Shah, Selma F Witchel, Camila Pereira-Eshraghi, Aviva B Sopher, Melanie G Cree, Laura C Torchen
INTRODUCTION: Polycystic ovary syndrome (PCOS) is a heterogenous clinical syndrome defined by hyperandrogenism and irregular menses. In adult women with PCOS, discrete metabolic and reproductive subgroups have been identified. We hypothesize that distinct phenotypes can be distinguished between adolescent girls who are lean (LN-G) and girls with obesity (OB-G) at the time of PCOS diagnosis. METHODS: Data were extracted from the CALICO multisite PCOS database. Clinical data collected at the time of diagnosis were available in 354 patients (81% with obesity) from 7 academic centers...
January 5, 2024: Journal of the Endocrine Society
https://read.qxmd.com/read/38173884/bullous-pemphigoid-malignant-acanthosis-nigricans-and-erysipeloid-carcinoma-in-a-woman-with-gastric-adenocarcinoma
#14
Saman Al-Zahawi, Yasaman Sadeghi, Vahidesadat Azhari, Hamidreza Mahmoudi, Maryam Daneshpazhooh
KEY CLINICAL MESSAGE: Bullous pemphigoid did not follow the course of Gastric Carcinoma relapse and remisson, unlike the malignant acanthosis nigricans which was in alignment with the paraneoplastic effect of the Gastric Carcinoma. ABSTRACT: Acanthosis nigricans (AN) is a dermatosis characterized by the presence of hyperpigmented, velvety cutaneous thickening in the flexural areas, posterior neck, and occasionally the extensor surfaces of hand, face, and oral mucosa...
January 2024: Clinical Case Reports
https://read.qxmd.com/read/38115735/skin-manifestations-in-adults-with-gender-dysphoria-on-hormone-treatment-in-the-outpatient-clinic-of-hospital-de-san-jos%C3%A3-bogot%C3%A3-colombia
#15
JOURNAL ARTICLE
Manuel F O Castañeda, Henry T Cortés, Nicolle G Isaac, Carolina M Cárdenas
BACKGROUND: Comprehensive healthcare for patients with gender dysphoria includes access to gender-affirming hormone therapy. It may cause cutaneous and adnexal side effects, which often affect quality of life, are underdiagnosed, and do not receive timely treatment. The literature on this subject is scarce. The main objective was to identify skin manifestations secondary to hormone treatment in adults with gender dysphoria. METHODS: Observational, descriptive, cross-sectional study...
December 19, 2023: International Journal of Dermatology
https://read.qxmd.com/read/38076653/fractional-carbon-dioxide-laser-versus-trichloroacetic-acid-20-peel-in-the-treatment-of-acanthosis-nigricans-a-split-neck-comparative-study
#16
JOURNAL ARTICLE
Ibrahim Fouda, Asmaa Saad Shatta, Zakaria Mahran Obaid
BACKGROUND: Acanthosis nigricans (AC) is a common chronic skin disorder clinically presenting as velvety, hyperpigmented lesions that can affect any part of the body, including the face. OBJECTIVE: We sought to evaluate and compare the efficacy and safety of fractional CO₂ laser and TCA 20% peel in the treatment of pseudo-acanthosis nigricans. METHODS: The current study adopted an experimental, comparative split-neck design. It included a total of 20 patients with bilateral pseudo-acanthosis nigricans of the neck...
November 2023: Journal of Clinical and Aesthetic Dermatology
https://read.qxmd.com/read/38068396/clinical-characterisation-and-comorbidities-of-acquired-generalised-lipodystrophy-a-14-year-follow-up-study
#17
JOURNAL ARTICLE
Antia Fernandez-Pombo, Teresa Prado-Moraña, Everardo Josue Diaz-Lopez, Sofia Sanchez-Iglesias, Ana I Castro, Silvia Cobelo-Gomez, David Araujo-Vilar
Acquired generalised lipodystrophy (AGL) is a rare disorder characterised by the gradual loss of fat that tends to generalise over time, the origin of which is still not fully clarified. The aim of this study was to offer a detailed description of seven patients with AGL (five women, 33.8 ± 18.6 years of age), evaluated over the last 14 years, in order to augment the knowledge of this disorder. The onset of the phenotype occurred during childhood and adolescence in five cases, and in adulthood in two cases...
November 27, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/38044655/combination-of-metformin-with-liraglutide-in-treating-hair-an-syndrome-in-children-a-case-report-and-literature-review
#18
REVIEW
Ranhao Li, Hongxin Li, Zhaojun Yang, Xuelian Zhang
Hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndrome is a special and rare subtype of polycystic ovarian syndrome. It can lead to hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) accompanied by acne, hirutism, irregular menstruation, and other androgen excess symptoms. A case of pediatric HAIR-AN syndrome with severe AN was admitted to the Department of Endocrinology, China-Japan Friendship Hospital. The patient's clinical manifestations, laboratory data, imaging features, and gene sequencing were analyzed, and the patient was diagnosed with pediatric HAIR-AN syndrome...
2023: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://read.qxmd.com/read/38011039/generalized-acanthosis-nigricans-due-to-long-use-of-steroids-in-pemphigus-foliaceous-patient
#19
JOURNAL ARTICLE
Mohammad El Darouti, Hadeer Khedr, Riham Mohiey El Din, Ahmed Mourad, Hagar El Sayed
No abstract text is available yet for this article.
November 21, 2023: Dermatitis
https://read.qxmd.com/read/37927368/concomitant-confluent-and-reticulated-papillomatosis-and-acanthosis-nigricans-in-patients-with-skin-of-color-and-need-for-early-interventions-for-insulin-resistance
#20
JOURNAL ARTICLE
Ndidi Enwereji, Janelle Mallett
No abstract text is available yet for this article.
December 2023: International Journal of Women's Dermatology
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