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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
Two new species of Acrocephalomyia Ibáñez-Bernal & Hernández-Ortiz (Diptera, Ropalomeridae) are described. The genus currently includes three species, the type species from Costa Rica, Acrocephalom...
Two sets of diagnostic criteria of paediatric multiple organ dysfunction syndrome (MODS) were published by Proulx in 1996 and by Goldstein in 2005. We hypothesized that this changes the epidemiology o...
We established and validated diagnostic criteria for pityriasis rosea and Gianotti-Crosti syndrome. In this paper, we compare and contrast both diagnostic criteria to formulate a protocol in establish...
Suicide: Incidence or Prevalence? Comments on Hernández-Alvarado et al. Increase in Suicide Rates by Hanging in the Population of Tabasco, Mexico between 2003 and 2012. Int. J. Environ. Res. Public Health 2016, 13, 552.
I recently reviewed the paper published in this journal by Hernández-Alvarado et al., titled "Increase in Suicide Rates by Hanging in the Population of Tabasco, Mexico between 2003 and 2012" , and...
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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...
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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.
Anesthesia is the loss of feeling or sensation in all or part of the body. It may result from damage to nerves or can be induced by an anesthetist (a medical professional) using anesthetics such as thiopental or propofol or sevoflurane during a surgical ...
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An anesthesiologist (US English) or anaesthetist (British English) is a physician trained in anesthesia and perioperative medicine. Anesthesiologists are physicians who provide medical care to patients in a wide variety of (usually acute) situations. ...