Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Abstract

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISF) are rare progressive, fatal autosomal recessive fibromatosis disorders that are characterized by the deposition of hyaline in various tissues. Mutations in capillary morphogenesis gene 2 are responsible for both of these conditions. These disorders usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhoea. An 18-month-old boy presented with multiple scalp abscesses, facial nodules, gingival hypertrophy, hypertrophic verrucous plaques and joint contractures with unique dermoscopic features and a history of recurrent diarrhoea and infections. Histopathological examination following skin biopsy revealed deposition of hyaline in the stroma and subcutaneous tissues. JHF is a differential diagnosis in children who present with multiple scalp nodules. Here, we report the case of overlapping features of JHF and ISH. The evolution of this case provides a special opportunity to further understand the pathogenesis and clinical characterization of hyaline fibromatosis syndrome.

Hyaline Fibromatosis Syndrome: Early Outcomes Following Major Craniofacial Mass Excision

“…8 Another case from India reported rapid growth and subsequent ulceration of cutaneous masses on the scalp, mirroring our case. 9 After extensive discussion, our multidisciplinary team determined that surgical removal would be beneficial for our patient, who was older than 7 years. The subsequent operation was successful, illustrating the potential benefits of a carefully considered surgical approach in managing such complex cases.…”

Anesthetic Management of a Patient With Juvenile Hyaline Fibromatosis: A Case Report Written With the Assistance of the Large Language Model ChatGPT

“…The anesthetic implications of HFS are primarily related to patient positioning and airway management. The presence of flexion contractures and large cutaneous lesions may complicate patient positioning for intravenous line placement, anesthesia induction, regional anesthesia procedures, or the surgery itself [ 3 , 4 , 10 , 13 , 16 , 18 ]. Our patient did not manifest any such limitations, illustrating the variable presentation of the disease.…”

A Case of Orphan Hyaline Fibromatosis Syndrome in Ukraine

“…Characteristic facies: a depressed bridge of the nose, defects in the development of the auricle (large or low-set ears, preauricular skin tags), and rough facial appearance. Cognitive function is preserved [3]. Recurrent infections are due to a violation of the cellular immune response and a decrease in the level of immunoglobulin.…”

“…This is a fatal disease. Due to multisystem failure, patients die within the first 2 years of life [2,3]. HFS is caused by a gene mutation in the extracellular protein-binding domain of a protein called capillary morphogenesis protein-2 (CMG2).…”

“…Кафедра педіатрії навчальнонаукового медичного інституту СумДУ, м. Суми, Україна; 2 Кафедра екстреної медичної допомоги та медицини катастроф навчально-наукового медичного інституту СумДУ, м. Суми, Україна; 3 Студент навчально-наукового медичного інституту СумДУ, м. Суми, Україна…”