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Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
In 1962, Scheie, Hamprick, and Barness [1] described the phenotype as a “forme fruste of Hurler's disease”. This was prescient, as it turned out that the phenotypes are allelic, both resulting from deficiency of the enzyme α-iduronidase (see Figure 77.1). It was the delineation of corrective factors by Fratantoni, Hall, and Neufeld [2] that led to the clear recognition that the Hurler and Scheie genes were allelic, because sulfate accumulation in Hurler fibroblasts was not cross-corrected by Scheie cells, and vice versa [3], and Hurler–Scheie corrective factor was identified as α-L-iduronidase [4]. Both Hurler and Scheie fibroblasts contained no demonstrable α-iduronidase activity against substrate phenyl-L-iduronide [5, 6].
Tuberous Sclerosis Complex
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Joana Jesus Ribeiro, Filipe Palavra, Flávio Reis
TSC was described for the first time by von Recklinghausen in 1862, after autopsy examination of a stillborn with multiple cardiac and brain tumors [3]. However, the term tuberous sclerosis was coined 18 years later when Bourneville, an expert in childhood mental retardation, noted a 15-year-old girl with mental retardation and epilepsy [4,5]. The term tuberous sclerosis of the cerebral convolutions was used to describe the distinctive findings at autopsy, namely the potato-like consistency of gyri with hypertrophic sclerosis [1,5]. Although there existed earlier descriptions of the dermatological findings, TSC was not recognized as a neurocutaneous syndrome until the nineteenth century [6]. Vogt published his understanding of the link among seizures, mental retardation, and adenoma sebaceum (facial angiofibromas), known as the Vogt triad, observed in only a third of cases [4]. In 1914 Schuster first applied the term “forme fruste” to patients with features of the TSC, but no mental retardation [4,6]. TSC was underdiagnosed until the 1980s when individuals with less severe manifestations of the disease began to be recognized [2].
Syndromic classification of congenital vascular malformations: How useful is it?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
Vascular malformations are often misdiagnosed and not generally understood by members of the medical community who do not focus their practices on these disorders. Classification of medical conditions in general affords a framework for more precise diagnoses and management. Syndromes represent clusters of clinical findings. Patients may have mild (“forme fruste”) or more elaborate degrees of syndromic expression. Awareness of the components of vascular anomalies syndromes is extremely important when discussing potential complications, presenting realistic precautions and expectations, and considering treatment planning. Syndromic classification provides this framework, which now includes genetic information. As discussed in chapters reviewing genetics (see Chapters 7, 8, and 10), many disorders associated with congenital vascular malformations are not isolated to the blood and/or lymphatic vessels.
Recent developments in keratoconus diagnosis
Published in Expert Review of Ophthalmology, 2018
Marcella Salomão, Ana Luisa Hoffling-Lima, Bernardo Lopes, Michael W. Belin, Nelson Sena, Daniel G. Dawson, Renato Ambrósio
Refractive surgery brought on the need to detect milder forms of ectatic disease because these cases are at much higher risk for progressive keratectasia after LVC [13]. However, even before the advent of refractive surgery, Amsler, over six decades ago, pioneered the efforts to detect mild (or fruste) forms of KC, using a Placido-disk Polaroid photokeratoscopy to characterize corneal irregularity [14]. Interestingly, Amsler used the term forme fruste to describe contralateral eyes of patients with known keratoconus that did not show changes on slit lamp or Placido imaging. While we should consider the limitations of the diagnostic capabilities of Amsler and coworkers, the actual definition of the term forme fruste should be considered. Fruste derives from French (‘crude, or unfinished form’), and is used in medicine to describe an aborted stage or an attenuated expression of disease. Considering forme fruste may also be considered as the opposite of forme plaine of the disease. In addition, this is fundamental to consider that conceptually, a forme fruste case of any disease may progress or not to the forme plaine.
Comparison of the morphological and biomechanical characteristics of keratoconus, forme fruste keratoconus, and normal corneas
Published in Seminars in Ophthalmology, 2021
Li-Li Guo, Lei Tian, Kai Cao, Yu-Xin Li, Na Li, Wei-Qiang Yang, Ying Jie
This study has a relatively large sample size and a large number of corneal morphological and biomechanical parameters, including some new parameters. Furthermore, this study also analyzes patients with forme fruste keratoconus, which may represent an earlier stage of the disease. The limitation of the study is that this is a cross-sectional study, and there is a lack of follow-up for patients with forme fruste keratoconus. Furthermore, there are relatively few cases of forme fruste keratoconus. In future studies, the sample size will be further increased, and we will continue to follow-up the disease progression of patients with forme fruste keratoconus.