Affiliation:
1. Department of Dermatology, Venereology and Leprosy, Government Medical College, Surat, Gujarat, India
Abstract
Infantile systemic hyalinosis (ISH) is an extremely rare disorder inherited in an autosomal recessive manner. The syndrome clinically presents with multiple joint contractures with chronic severe pain, papulonodular skin lesions, hypotonia, gingival enlargement, developmental delay, and systemic manifestations. In this case report, we present the case of a 21-month-old Indian girl with ISH. This case demonstrates that ISH, though rare, should be considered in differential diagnosis in patients with subcutaneous nodules and raised lesions on the face and neck.
Subject
Psychiatry and Mental health,Neuropsychology and Physiological Psychology
Reference9 articles.
1. A severe case of infantile systemic hyalinosis in an Asian child:A product of consanguinity;Baroud;Cureus,2021
2. Infantile systemic hyalinosis:Report of 17-year experience;Raeeskarami;Iran J Pediatr,2014
3. Clinical aspects of Hyaline Fibromatosis syndrome and identification of a novel mutation;Härter;Mol Genet Genomic Med,2020
4. Juvenile hyaline fibromatosis;Karande;Contemp Clin Dent,2018
5. Hyaline fibromatosis syndrome with mutation c 1074delT of the CMG2 gene:A case report;Jaouad;J Med Case Rep,2014