A Case of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, Showing Symptoms of Dysphagia

Abstract

Introduction:　Swallowing training was performed for a case of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). The course of dysphagia is reported.

Case:　A 47-year-old man. At X－4 years, he presented with a variety of symptoms, including polymorphic skin atrophy on the face, muscle weakness in the proximal limbs, and dysphagia. He was diagnosed as POIKTMP by mutation of the FAM111B gene.

Course:　At X years, the delay time of laryngeal elevation was prolonged, and the onset of swallowing reflex was significantly delayed compared to X－3 years. Laryngeal elevation failure worsened due to narrowing of the movement of the hyoid bone too.

Discussion:　In this case, the disorder at the pharyngeal stage was stronger than that at the oral stage. It is suggested that nutritional status should be taken into consideration when performing swallowing training, and it is important to monitor nutritional status from an early stage. Conventionally, patients without neck muscle weakness have no dysphagia, while those with neck muscle weakness have dysphagia. In this case, the muscle strength of the limbs and neck was weakened, and dysphagia appeared too. The occurrence of dysphagia was most likely related to neck muscle weakness, suggesting the importance of focusing on neck muscle strength.