Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, Delhi, India
BMJ Case Rep. 2022 May 17;15(5):e247193. doi: 10.1136/bcr-2021-247193.
Touraine-Solente-Gole syndrome is a rare, autosomal dominant multisystem disorder arising from dysregulated prostaglandin synthesis due to underlying genetic defects. Early symptoms are related to skin and soft tissue involvement (coarse facial features, widening of wrists, etc) and may thus be overlooked unless a careful physical examination is carried out. Secondary causes of pachydermoperiosteitis must always be looked for in such patients. During evaluation, a systemic review of all organ systems should be carried out to identify asymptomatic or subclinical involvement of organ systems and identify means to avoid disease progression. Treatment options are limited to steroids and non-steroidal anti-inflammatory drugs. In the absence of definitive guidelines, clinical decisions are largely case based, with no definite duration of drug therapy or screening of potential malignancies outlined in current literature. Mental health and social rehabilitation of these patients due to their disfiguring deformities are an unmet need.
图赖恩-索伦蒂-戈尔综合征是一种罕见的常染色体显性多系统疾病，由于潜在的遗传缺陷导致前列腺素合成失调而引起。早期症状与皮肤和软组织受累有关（粗糙的面部特征、手腕增宽等），除非进行仔细的体格检查，否则可能会被忽视。在这些患者中，必须始终寻找厚皮骨膜病的继发性原因。在评估过程中，应全面检查所有器官系统，以确定无症状或亚临床器官系统受累，并确定避免疾病进展的方法。治疗选择仅限于类固醇和非甾体抗炎药。由于目前文献中没有明确的指南，临床决策在很大程度上是基于病例的，没有明确规定药物治疗的持续时间或筛查潜在恶性肿瘤。由于这些患者存在畸形，他们的心理健康和社会康复是一个未满足的需求。
