Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
Summary of "Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria."
Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.
Department of Pediatric Neurology, "Arabkir" Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia.
This article was published in the following journal.
Name: European journal of pediatrics
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20652311
- DOI: http://dx.doi.org/10.1007/s00431-010-1259-7
Controversial Issues in Implant Dentistry. Hernández Alfaro F. Hanover Park, Ill: Quintessence Publishing, 2013.
Abstract Sensitivity and specificity were compared among the American College of Rheumatology (ACR) 1987 classification criteria, the Yamasaki diagnostic criteria, and the Japan Rheumatism Association...
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by prolonged clinical symptoms even after the withdrawal of the culprit drug. Different criteria to diagnose DRE...
Sjögren syndrome is a complex autoimmune disease that affects lacrimal and salivary glands along with the potential to cause damage to other organs. Diagnosis of childhood Sjögren syndrome is curren...
Patients diagnosed with Stevens-Johnson syndrome and Toxic Epidermal Necrolysis were confirmed based on the investigators national diagnostic criteria. Patients who meet all inclusion crit...
Irritable bowel syndrome (IBS) is an extremely common disorder in the U.S population, affecting somewhere between 9-22% based on community based studies. IBS has a chronic relapsing course...
Background: Existing criteria for AS/SpA such as mod. New York, ESSG, or Amor criteria for classification and/or diagnosis of spondyloarthritis have limitations when applied to early...
Develop a tool to objectively quantify technical skills necessary to perform diagnostic cystoscopy (using Objective Structured Assessment of Technical Skills- OSATS). Develop criteria by...
A diagnostic laparoscopy is frequently used to confirm the diagnosis of appendicitis. However, laparoscopic criteria for determining appendicitis are not defined. If there is any doubt abo...
Medical and Biotech [MESH] Definitions
Levels of severity of illness within a diagnostic group which are established by various measurement criteria.
Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)
Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols.
A noninvasive diagnostic technique that enables an experienced clinician to perform direct microscopic examination of the surface and architecture of pigmented SKIN lesions. The four major dermoscopic criteria are ABCD: asymmetry (A), borders (B), colors (C), and different structural components (D) providing a semiquantitative scoring system for each lesion.
Pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.