Year: 2025
Type: article
Study design: Case Report
Abstract: Background: Hyaline fibromatos is syndrome (HF) is a rare condition characterized by hyaline deposits in the papillary dermis that lead to joint contractures, motor impairment, thickened skin, and hyperpigmented macules. Severe cases may present with protein-losing enteropathy (PLE), increasing the risk of mortality. The diagnosis of HFS involves clinical evaluation, genetic analysis of ANTXR2 variants, skin and intestinal biopsies, skeletal x-rays, and molecular genetic testing. Treatment focusses on the management of symptoms and includes various interventions such as splinting, excision of lesions, hydration, and pharmacotherapy. Case presentation: We present the case of a 2-month-old female child with HFS, born prematurely to consanguineous parents. The child exhibited characteristic symptoms, including excessive crying, limb deformities, and congenital hypothyroidism. Despite symptomatic management and prenatal diagnosis counseling, the child succumbed to sepsis after a month. Conclusions : HFS presents significant challenges in clinical management, particularly in severe cases where complications such as protein-losing enteropathy can lead to fatal outcomes. Early diagnosis through comprehensive genetic and clinical evaluation is crucial for appropriate management and counseling of affected individuals and their families.
Institution: Northern Border University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409404954