Affiliation:
1. Department of Clinical Genetics Tokyo Metropolitan Children's Medical Center Tokyo Japan
2. Department of Nursing Tokyo Metropolitan Children's Medical Center Tokyo Japan
3. Department of Gastroenterology Tokyo Metropolitan Children's Medical Center Tokyo Japan
4. Department of Plastic and Reconstructive Surgery Tokyo Metropolitan Children's Medical Center Tokyo Japan
5. Department of Pediatric Dentistry Tokyo Metropolitan Children's Medical Center Tokyo Japan
6. Division of Medical Genetics and Cytogenetics Shizuoka Children's Hospital Shizuoka Japan
Abstract
AbstractBackgroundHyaline fibromatosis syndrome (HFS) is a congenital disorder characterized by subcutaneous skin nodules, congenital multiple arthrogryposis, gingival hyperplasia, and chronic pain. The intellectual ability of patients with HFS is generally normal. This syndrome arises from variants of ANTXR2. Thus far, about 100 cases have been reported but few of these were reported from Japan.MethodsThis study reports five additional Japanese patients with genetically confirmed HFS, from unrelatd families, and discusses the clinical course and quality of life of these patients.ResultsAt our last visit the ages of the patients were 3–19 years (the median age was 5 years). All the patients had arthrogryposis, skin nodules, and gingival hyperplasia, and four patients had chronic pain, all of which are distinctive, clinical characteristics of HFS. Four of the patients (80%) had pruritic skin nodules, and three experienced sleep disruptions due to pruritis. The visceral complications are an index of HFS severity. One patient in the present cohort had a mucosal abnormality without any gastrointestinal symptoms.ConclusionPreventive and routine management of pruritis caused by skin nodules should be shared with the patient's family. Even asymptomatic patients might have endoscopic finding, which would be a soft marker that could predict the development of protein losing enteropathy.