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    Berardinelli-Seip Congenital Generalised Lipodystrophy.
    J Coll Physicians Surg Pak 2018 May;28(5):406-408
    Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and The Institute of Child Health, Lahore.
    Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. Read More

    Increasing incidence of type 2 diabetes in New Zealand children <15 years of age in a regional-based diabetes service, Auckland, New Zealand.
    J Paediatr Child Health 2018 Apr 24. Epub 2018 Apr 24.
    Auckland District Health Board, Starship Children's Hospital, Auckland, New Zealand.
    Aim: It is important to understand whether type 2 diabetes mellitus (T2DM) is increasing in childhood for health-care planning and clinical management. The aim of this study is to examine the incidence of T2DM in New Zealand children, aged <15 years from a paediatric diabetes centre, Auckland, New Zealand.

    Methods: Retrospective analysis of prospectively collected data from a population-based referral cohort from 1995 to 2015. Read More

    Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
    Cleft Palate Craniofac J 2018 Jan 1:1055665618760412. Epub 2018 Jan 1.
    1 Department of Genetics and Biotechnology, School of Physical Sciences, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
    Introduction: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify. Read More

    Congenital generalized lipodystrophy in Taiwan.
    J Formos Med Assoc 2018 Feb 22. Epub 2018 Feb 22.
    Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:
    Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Read More

    Dermatologic manifestations of acromegaly: A case in point and a focused review.
    Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.
    Department of Dermatology, State University of New York Downstate Medical Center, Brooklyn, New York, Dermatology Service, Veterans Affairs Medical Center, Brooklyn, New York.
    Acromegaly is a systemic syndrome caused by overproduction of growth hormone. Cutaneous, endocrine, cardiovascular, skeletal, and respiratory systems are affected. Cutaneous changes in acromegaly relate to overexpression of growth hormone and insulin-like growth factor 1 on skin cells and adnexa. Read More

    The Diagnostic Value of Anti-Mullerian Hormone in Early Post Menarche Adolescent Girls with Polycystic Ovarian Syndrome.
    J Pediatr Adolesc Gynecol 2018 Feb 17. Epub 2018 Feb 17.
    Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
    Study Objective: Polycystic ovarian syndrome (PCOS) is a common endocrine disorder characterized by hyperandrogenism and chronic anovulation, which affects 5-10% of reproductive age females. Diagnosis of adult patients with PCOS is made easily with clinical and laboratory methods and the antimullerian hormone (AMH) level are accepted as a good indicator. However, there is still no complete consensus on the diagnosis of PCOS in adolescents. Read More

    Adult-onset acne: prevalence, impact, and management challenges.
    Clin Cosmet Investig Dermatol 2018 1;11:59-69. Epub 2018 Feb 1.
    Paulista Medical School, Universidade Federal de São Paulo (Federal University of São Paulo), São Paulo, SP, Brazil.
    Acne is a multifactorial and inflammatory disease of pilosebaceous follicles, which affects most adolescents. Recent epidemiological data revealed a difference in adults affected by this disease. Women have a high prevalence and incidence when compared with men, especially after 25 years of age. Read More

    Evaluation of nonalcoholic fatty liver disease using magnetic resonance in obese children and adolescents.
    J Pediatr (Rio J) 2018 Feb 10. Epub 2018 Feb 10.
    Universidade de São Paulo (USP), Faculdade de Medicina de Ribeirão Preto (FMRP), Departamento de Puericultura e Pediatria, Ribeirão Preto, SP, Brazil. Electronic address:
    Objective: To determine the frequency of nonalcoholic fatty liver disease using nuclear magnetic resonance as a noninvasive method.

    Methodology: This was a cross-sectional study conducted on 50 children and adolescents followed up at an outpatient obesity clinic. The subjects were submitted to physical examination, laboratory tests (transaminases, liver function tests, lipid profile, glycemia, and basal insulin) and abdominal nuclear magnetic resonance (calculation of hepatic, visceral, and subcutaneous fat). Read More

    Phenotypic and metabolic dichotomy in obesity: clinical, biochemical and immunological correlates of metabolically divergent obese phenotypes in healthy South Asian adults.
    Singapore Med J 2018 Feb 12. Epub 2018 Feb 12.
    King Edward Medical University, Lahore, Pakistan.
    Introduction: Metabolic heterogeneity among obese individuals is thought to translate into variation in cardiovascular risk. Identifying obese people with an unfavourable metabolic profile may allow targeting preventive strategies towards those at greatest risk. This study aimed to identify clinical, biochemical and immunological differences between insulin sensitive and resistant obese subgroups, to understand the population-specific pathophysiological basis of the adverse cardiovascular risk profile in the latter group. Read More

    Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.
    Pediatr Diabetes 2018 Feb 7. Epub 2018 Feb 7.
    Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy.
    Aim: Hypoglycemia in childhood is very rare and can be caused by genetic mutations or insulin-secreting neoplasms. Postprandial hypoglycemia has previously been associated with insulin receptor (INSR) gene mutations. We aimed to identify the cause of postprandial hypoglycemia in a 10-year-old boy. Read More

    Elevated serum alkaline phosphatase · generalized pruritus · Dx?
    J Fam Pract 2018 Feb;67(2):E12-E14
    Department of Medicine, Metropolitan Hospital Center, New York, NY, USA.
    A 34-year-old woman was referred to the hepatology clinic for evaluation of an increased serum alkaline phosphatase (ALP) level. She was gravida 5 and in her 38th week of gestation. Her obstetric history was significant for 2 uncomplicated spontaneous term vaginal deliveries resulting in live births and 2 spontaneous abortions. Read More

    New onset diabetes after nivolumab treatment.
    BMJ Case Rep 2018 Jan 29;2018. Epub 2018 Jan 29.
    Department of Endocrinology, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.
    The authors describe a case of a life-threatening diabetic emergency 25 days after initiation of nivolumab (3 mg/kg) for stage 4 lung adenocarcinoma. She was admitted to the emergency department, with hyperglycaemia-related signs and symptoms, such as polyuria, polydipsia, weight loss, confusion, asthenia, dehydration, hypotension and Kussmaul respiratory pattern. Her body mass index was 21. Read More

    Clinical profile of 300 men with facial hypermelanosis.
    J Dermatol Case Rep 2017 Dec 1;11(2):20-24. Epub 2017 Dec 1.
    Department of Dermatology, Venereology & Leprosy, Dr. R. P. Govt. Medical College, Kangra (Tanda)-176001 (Himachal Pradesh), India.
    Background: Facial hypermelanosis is a significant cause of cosmetic disfigurement, social embarrassment and psychological morbidity affecting quality of life.

    Objective: To study clinicoepidemlogic patterns of facial hypermelanoses among men.

    Material And Methods: Medical records of all adult males presenting with facial hypermelanoses were analyzed for this retrospective cross sectional study for demographic details, duration, cosmetic usage, sun exposure, drug intake, infections, systemic or cutaneous diseases, and family history of hypermelanotic dermatosis. Read More

    Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.
    Cleft Palate Craniofac J 2018 Feb 14;55(2):296-300. Epub 2017 Dec 14.
    1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided. Read More

    Polycystic Ovarian Syndrome-associated Confluent and Reticulated Papillomatosis: Report of a Patient Successfully Treated with Azithromycin.
    J Clin Aesthet Dermatol 2017 Sep 1;10(9):30-35. Epub 2017 Sep 1.
    Dr. Fite is with Shenandoah Dermatology in Staunton, Virginia.
    Polycystic ovarian syndrome is a common endocrine disorder with a variety of dermatologic manifestations among young women. Confluent and reticulated papillomatosis is a rare dermatosis of unknown etiology that is seldom reported in patients with polycystic ovarian syndrome. We describe the case of a young woman with obesity, confluent and reticulated papillomatosis, and concurrent acanthosis nigricans. Read More

    Georgian Med News 2017 Dec(273):41-46
    Shupyk National Medical Academy of Postgraduate Education; Ukrainian Research and Practical Centre of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine.
    Skin pathology is registered in vast majority of patients with diabetes mellitus (DM). Despite the abundance of publications on dermatological problems in DM, there is still a number of gaps to be discussed in terms of pathophysiological mechanisms. The goal of this review was to assess the mechanisms of development of different skin pathologies under DM. Read More

    [Paraneoplasms of the skin].
    Internist (Berl) 2018 Feb;59(2):134-144
    Klinik und Poliklinik für Dermatologie und Allergologie, Klinikum der Universität München, Ludwig-Maximilians-Universität München, München, Deutschland.
    The cutaneous manifestations of malignancies include nonmalignant skin disorders that occur in association with malignancies (facultative paraneoplastic dermatoses) and skin disorders that are always associated with hematologic diseases or solid tumors (obligate paraneoplastic dermatoses). Paraneoplastic increase of growth factors or immunological reactions lead to a variety of inflammatory, hyperkeratotic or proliferative skin reactions. When paraneoplastic dermatoses develop before cancer is diagnosed, recognition of these skin diseases can accelerate both the diagnosis and treatment. Read More

    Dysbiosis Signatures of Gut Microbiota Along the Sequence from Healthy, Young Patients to Those with Overweight and Obesity.
    Obesity (Silver Spring) 2018 Feb 27;26(2):351-361. Epub 2017 Dec 27.
    Department of General Surgery, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China.
    Objective: To investigate the gut microbiota in healthy volunteers (HVs), patients with overweight (OW), and patients with obesity (OB), including those with acanthosis nigricans (AN) or without AN (N-AN).

    Methods: Microbial 16S rRNA genes were examined by using pyrosequencing technology and analyzed by using bioinformatics methods.

    Results: Subjects in the OW and OB groups showed severe disturbances in glycemic control, lipid profile, and inflammatory markers (all P < 0. Read More

    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
    J Clin Endocrinol Metab 2018 Mar;103(3):1005-1014
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
    Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. Read More

    Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.
    J Endocr Soc 2017 Aug 26;1(8):1012-1014. Epub 2017 Jun 26.
    Endocrinology Unit, Dos De Mayo Hospital, Lima, Peru (051) 15072.
    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. Read More

    Facial Acanthosis Nigricans: A Morphological Marker of Metabolic Syndrome.
    Indian J Dermatol 2017 Nov-Dec;62(6):591-597
    Department of Dermatology, Dr B. C. Roy Post Graduate Institute of Pediatric Sciences, Kolkata, West Bengal, India.
    Introduction: Acanthosis nigricans (AN) is a frequently encountered entity. Facial AN (FAN) is a subset of AN which is being increasingly recognized. Recently, reports hypothesizing the association of FAN with features of metabolic syndrome have been published. Read More

    Insulin-mediated pseudoacromegaly: a report of two pediatric patients.
    J Pediatr Endocrinol Metab 2018 Jan;31(2):235-238
    Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
    Background: Insulin-mediated pseudoacromegaly is a rarely described pediatric phenotype. We present two patients displaying excessive growth associated with marked acanthosis nigricans, hyperinsulinemia and metabolic dysregulation.

    Case Presentation: Both patients, of First Nations descent, presented with excessive growth - patient one at 3. Read More

    Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation.
    Int J Biochem Cell Biol 2018 Feb 11;95:17-26. Epub 2017 Dec 11.
    Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona Medical School, Verona, Italy. Electronic address:
    K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. Both SADDAN and TDII present with affected endochondral ossification marked by impaired chondrocyte functions and growth plate disorganization. In vitro, K650M/E substitutions confer FGFR3 constitutive kinase activity leading to impaired biosynthesis and accumulation of immature receptors in endoplasmic reticulum (ER)/Golgi. Read More

    Genetics and the metabolic syndrome.
    Clin Dermatol 2018 Jan - Feb;36(1):9-13. Epub 2017 Sep 8.
    Department of Endocrinology, St Vincent's University Hospital, University College Dublin, Dublin, Ireland. Electronic address:
    Originally coined as "syndrome X" in 1988 by Gerald Reaven (1928), the metabolic syndrome (MetS) encompasses a constellation of risk factors, the coincidence of which amounts to an increased cardiovascular and diabetic risk. Rising numbers of dermatoses are being recognized as cutaneous markers of MetS. Dermatologists should look beyond treating the cutaneous condition and quantify the associated increase in cardiovascular risk. Read More

    Cutaneous manifestations of obesity and themetabolic syndrome.
    Clin Dermatol 2018 Jan - Feb;36(1):81-88. Epub 2017 Sep 8.
    Department of Dermatology, Istanbul Medeniyet University School of Medicine, Istanbul, Turkey.
    The cutaneous manifestations of obesity and the associated metabolic syndrome (MetS) may present with a wide variety of cutaneous findings, including acanthosis nigricans, acrochordon, cellulitis, psoriasis, hidradenitis suppurativa, acne, and hirsutism. Being aware of such clinical signs and the underlying systemic disorders may facilitate earlier diagnoses, thereby permitting earlier of therapy initiation and prevention of long-term sequelae. In this process, dermatologists are key figures in the early detection of MetS and its clinical manifestations. Read More

    Gynecologic and andrologic dermatology and the metabolic syndrome.
    Clin Dermatol 2018 Jan - Feb;36(1):72-80. Epub 2017 Sep 8.
    Department of Dermatology,Warren Alpert Medical School of Brown University, Providence, RI; Department of Dermatology, Medical School of Jundiaí, Jundiaí, SP, Brazil, Brazil* GK Dermatology, South Weymouth, MA. Electronic address:
    The relationship of sex hormones to obesity and inflammation has been extensively studied. Research on endogenous and exogenous sex steroids, including studies on animal models of metabolic syndrome (MetS), has indicated that sex hormones are involved in metabolic pathways relevant to MetS. Lower testosterone levels in men and higher levels in women increase risks of MetS and type 2 diabetes mellitus (T2DM). Read More

    Early Clinical Expressions of Insulin Resistance: The Real Enemy to Look For.
    Diabetes Ther 2018 Feb 5;9(1):435-438. Epub 2017 Dec 5.
    Endocrinology Division, Department of Internal Medicine, University Hospital, Universidad Autonoma de Nuevo Leon, Monterrey, 64460, Mexico.
    The type 2 diabetes mellitus epidemic threatens public healthcare systems worldwide. Efforts to prevent chronic complications of diabetes and reduce their associated mortality have been ineffective. Hence, early prevention of type 2 diabetes mellitus and cardiovascular disease needs to be prioritized. Read More

    Dermatologic manifestations of endocrine disorders.
    Transl Pediatr 2017 Oct;6(4):300-312
    The Ohio State University College of Medicine, Columbus, OH, USA.
    The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. Read More

    Reply to the comment to our article titled: «Association of metabolic syndrome with low birth weight of birth, intake hypercaloric diets and acanthosis nigricans in childhood and teens with overweight and obesity».
    Endocrinol Diabetes Nutr 2017 12 18;64(10):568-569. Epub 2017 Oct 18.
    Maestría en Nutrición Clínica, Universidad del Valle de Atemajac, Zapopan, México; Departamento de Clínicas Médicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México; Laboratorio de Inmunodeficiencias y Retrovirus Humanos, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, México. Electronic address:

    Malignant acanthosis nigricans: an early diagnostic clue for gastric adenocarcinoma.
    World J Surg Oncol 2017 Nov 25;15(1):208. Epub 2017 Nov 25.
    Department of Dermatology, Shanghai Tenth People's Hospital9, Tongji University School of Medicine, No.301, Middle Yanchang Road, Shanghai, 200072, China.
    Background: Malignant acanthosis nigricans (MAN), characterized by the presence of a hyperpigmented, velvety cutaneous thickening, is recognized as a cutaneous sign of internal malignancy. Few MAN has been reported in the Asian race ever before.

    Case Presentation: Here, we report a rare case of MAN with severe mucosa and soles and extraordinary facial involvement in the Asian race. Read More

    Laparoscopic sleeve gastrectomy improves body composition and alleviates insulin resistance in obesity related acanthosis nigricans.
    Lipids Health Dis 2017 Nov 7;16(1):209. Epub 2017 Nov 7.
    Department of Endocrinology and Metabolism, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, 301 Middle Yan-chang Road, Shanghai, 200072, China.
    Background: Acanthosis nigricans (AN) has a close relationship with obesity. It is believed that obesity and AN have the common pathophysiological basis such as hyperinsulinism. This study is aimed to observe the effect of laparoscopic sleeve gastrectomy (LSG) on body composition and insulin resistance in Chinese obese patients with acanthosis nigricans. Read More

    Insulinoma masquerading as a loss of consciousness in a teenage girl: case report and literature review.
    Int J Pediatr Endocrinol 2017 17;2017:13. Epub 2017 Oct 17.
    Division of Pediatric Endocrinology, Baystate Children's Hospital, 50 Wason Ave, Springfield, MA 01199 USA.
    Background: Hypoglycemia due to a pancreatic beta cell neoplasm - insulinoma, is uncommon with only a few cases described. We report on a previously healthy 15-year-old Hispanic female with insulinoma who presented with a loss of consciousness due to hypoglycemia unawareness.

    Case Presentation: EM was first brought to the emergency department (ED) after she was found unresponsive at home with point of care (POC) glucose of 29 mg/dL(1. Read More

    Familial acanthosis nigricans with p.K650T FGFR3 mutation.
    J Dermatol 2018 Feb 25;45(2):207-210. Epub 2017 Oct 25.
    Department of Dermatology, Hamamatsu University School of Medicine.
    Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Read More

    Comment about the article: «Association of metabolic syndrome with low birth weight, intake of high-calorie diets and acanthosis nigricans in children and adolescents with overweight and obesity».
    Endocrinol Diabetes Nutr 2017 12 22;64(10):567-568. Epub 2017 Oct 22.
    Carrera de Nutrición y Dietética, Universidad Peruana de Ciencias Aplicadas, Lima, Perú; Division of Infectious Diseases, Department of Medicine, David Geffen School of Medicine, University of California, Los Ángeles, CA, EE. UU.

    Fetal Overnutrition and Adolescent Hepatic Fat Fraction: the Exploring Perinatal Outcomes in Children Study.
    J Pediatr 2018 Jan 16;192:165-170.e1. Epub 2017 Oct 16.
    Department of Epidemiology, University of Colorado School of Public Health, Aurora, CO.
    Objective: To determine if fetal overnutrition resulting from maternal obesity or gestational diabetes mellitus (GDM) is associated with increased liver fat during adolescence, adjusting for past and current metabolic risk factors.

    Study Design: Data come from a historical prospective cohort study (Exploring Perinatal Outcomes in Children) of 254 mother-child pairs in Colorado who participated in 2 research visits at T1 (mean age 10.4, SD = 1. Read More

    Acanthosis nigricans: A screening test for insulin resistance - An important risk factor for diabetes mellitus type-2.
    J Family Med Prim Care 2017 Jan-Mar;6(1):43-46
    Department of Family Medicine, Aster MIMS Hospital, Kozhikode, Kerala, India.
    Background: Acanthosis nigricans (AN) is one of the signs suggestive of high insulin resistance (IR). IR is one of the mechanisms involved in pathogenesis of diabetes mellitus type-2 (DM Type-2). Thus, early detection of IR in children may allow us time to intervene well before the development of DM Type-2. Read More

    Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in .
    Clin Pediatr Endocrinol 2017 28;26(4):223-228. Epub 2017 Sep 28.
    Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
    Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 () have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Read More

    Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
    Radiographics 2017 Oct;37(6):1813-1830
    From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (K.M.S.); Department of Radiology, University of Texas Health Science Center San Antonio, San Antonio, Tex (A.K.S.); and Department of Radiology, University of Iowa College of Medicine, Iowa City, Iowa (S.C.K.).
    Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Read More

    Clinical profile of diabetes at diagnosis among children and adolescents at an endocrine clinic in Ghana.
    World J Diabetes 2017 Sep;8(9):429-435
    International Diabetes Federation Life for a Child Program, Glebe, NSW 2037, Australia.
    Aim: To determine the clinical features of diabetes in children and adolescents in Ghana.

    Methods: Retrospective review of clinical features of all children and adolescents with new-onset diabetes seen at the paediatric endocrinology clinic of Komfo Anokye Teaching Hospital in Kumasi, from February 2012 to Auguest 2016.

    Results: One hundred and six subjects presented with diabetes. Read More

    Differences between Metabolically Healthy vs Unhealthy Obese Children and Adolescents.
    J Natl Med Assoc 2017 Autumn;109(3):203-210. Epub 2017 Apr 6.
    Division of Pediatric Endocrinology, Department of Pediatrics, SUNY Downstate Medical Center and Kings County Hospital Center, Brooklyn, NY, USA. Electronic address:
    Obesity is on the rise worldwide. An obesity subtype, metabolically healthy obese (MHO), is resilient to unfavorable metabolic and cardiovascular effects. Factors predicting MHO phenotype are not well characterized. Read More

    Prevalence of dermatologic manifestations and metabolic biomarkers in women with polycystic ovary syndrome in north China.
    J Cosmet Dermatol 2017 Sep 21. Epub 2017 Sep 21.
    Department of Dermatology, Xuan Wu Hospital Capital Medical University, Beijing, China.
    Background: Cutaneous features of hyperandrogenism in polycystic ovary syndrome (PCOS) include acne, hirsutism, seborrhea, androgenic alopecia (AGA), and acanthosis nigricans (AN). However, the relationships have not been well known broadly in terms of clinical hyperandrogenism and biochemical markers.

    Objectives: The aim of this study was to investigate biochemical and metabolic parameters in relation to cutaneous characters women in with and without PCOS. Read More

    Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans.
    Am J Dermatopathol 2017 Oct;39(10):782-784
    Departments of *Dermatology, and†Pathology, Başkent University İstanbul Hospital, İstanbul, Turkey.
    Terra firma-forme dermatosis (TFFD) is a clinical condition characterized by brown-gray, velvety, pigmented patches or plaques, resembling dirt on the skin. Nevoid acanthosis nigricans (NAN) is a rare and recently described form of acanthosis nigricans occurring during childhood or early adulthood. Herein we describe a patient with TFFD, initially misdiagnosed as NAN. Read More

    Prevalence of Acanthosis nigricans and Related Factors in Iranian Obese Children.
    J Clin Diagn Res 2017 Jul 1;11(7):SC05-SC07. Epub 2017 Jul 1.
    Assistant Professor, Pediatric Intensifier, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Introduction: Recognition of Acanthosis nigricans (AN) provides important opportunities for screening of obesity syndrome, dyslipidemia, hypertension and insulin resistance with diabetes mellitus 2. Considering the high prevalence of obesity among Iranian children, we designed this study to estimate the prevalence of AN and related laboratory factors in Iranian obese children.

    Materials And Methods: Seventy-one obese children were enrolled in this study. Read More

    Glucose alteration and insulin resistance in asymptomatic obese children and adolescents.
    J Pediatr (Rio J) 2017 Aug 26. Epub 2017 Aug 26.
    Universidade Federal da Bahia (UFBA), Salvador, BA, Brazil.
    Objective: Obesity is associated with the abnormal glucose metabolism preceding type 2 diabetes mellitus. Thus, further investigation on the prediction of this lethal outcome must be sought. The objective was the profile glycemic assessment of asymptomatic obese children and adolescents from Salvador, Brazil. Read More

    Antibody-Mediated Extreme Insulin Resistance: A Report of Three Cases.
    Am J Med 2018 Jan 16;131(1):102-106. Epub 2017 Aug 16.
    Division of Endocrinology, Diabetes, & Metabolism, Department of MedicineThe Johns Hopkins University School of Medicine, Baltimore, Md. Electronic address:
    Background: Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesting severe insulin resistance include acanthosis nigricans, hyperandrogenism, weight loss, and recurrent hospital admissions for diabetic ketoacidosis. In rare circumstances, hyperglycemia persists despite administration of massive doses of insulin. Read More

    Type 1 Diabetes and Non-Alcoholic Fatty Liver Disease: When Should We Be Concerned? A Nationwide Study in Brazil.
    Nutrients 2017 08 15;9(8). Epub 2017 Aug 15.
    Department of Internal Medicine, Diabetes Unit, State University of Rio de Janeiro (UERJ), Boulevard 28 de Setembro, 77-3º andar-Vila Isabel, Rio de Janeiro-RJ CEP 20551-030, Brazil.
    Obesity is increasing worldwide, affecting even patients with type 1 diabetes (T1D). A higher prevalence of associated comorbidities is expected, such as non-alcoholic fatty liver disease (NAFLD). This paper reports a cross-sectional multicenter study on a population with T1D ( = 1662), which aimed to evaluate the prevalence of metabolic syndrome (MS), a known risk factor for NAFLD, and to investigate predisposing factors associated with MS, as well as factors associated with elevated alanine aminotransferase (ALT), as it correlates to liver fat content. Read More

    Acanthosis Nigricans and Its Response to Metformin.
    Pediatr Dermatol 2017 Sep 30;34(5):e281-e282. Epub 2017 Jul 30.
    Department of Paediatric Endocrinology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK.
    Acanthosis nigricans (AN) is the most common cutaneous manifestation of insulin resistance (IR) and is commonly seen in non-Caucasian populations. Variable benefits of metformin in the treatment of AN have been reported in the literature. We report an adolescent Caucasian boy with IR and extensive AN who showed complete resolution of AN after 2 years of metformin, despite persistence of IR. Read More

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