Abstract

IntroductionJuvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Infantile systemic hyalinosis is distinguished from juvenile hyaline fibromatosis by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections and death within the first two years of life.Hyaline fibromatosis syndrome is due to mutations of the gene-encoding capillary morphogenesis protein 2 (CMG2). Cases have been reported in different countries but to the best of our knowledge, this is the first reported Moroccan patient with hyaline fibromatosis syndrome and carrying the CMG2 mutation.Case presentationWe report the case of an eight-year-old Moroccan male patient with typical features of hyaline fibromatosis syndrome: multiple recurring subcutaneous tumors, gingival hypertrophy, joint contractures and other anomalies carrying a homozygous mutation in the CMG2 gene. The identification of the mutation in our patient allowed us to do a presymptomatic diagnosis in our patient’s sister, a two-day-old newborn, who is carrying the familial mutation in the heterozygous state. Early recognition of this condition is important for genetic counseling and early treatment.ConclusionsHyaline fibromatosis syndrome might be underdiagnosed. Molecular diagnosis will help clinicians and geneticists, firstly to conduct genetic counseling, prenatal diagnosis and early treatment, and secondly to gain better understanding of the disease and genotype-phenotype correlations.

Highlights

  • Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth

  • Case presentation: We report the case of an eight-year-old Moroccan male patient with typical features of hyaline fibromatosis syndrome: multiple recurring subcutaneous tumors, gingival hypertrophy, joint contractures and other anomalies carrying a homozygous mutation in the capillary morphogenesis protein 2 (CMG2) gene

  • Juvenile hyaline fibromatosis (JHF MIM 228600) and infantile systemic hyalinosis (ISH MIM 236490) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures and hyaline deposition

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Summary

Conclusions

HFS is still a poorly understood disease of a particular biology and raises a problem of treatment. The major benefit in identifying pathogenetic mutations in individual cases with HFS is to conduct genetic counseling, prenatal diagnosis and provide early treatment. Consent Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images. Authors’ contributions CJI participated in the conception and design of the study, the sequence alignment and drafted the manuscript. GS participated in the molecular genetic studies and the sequence alignment. HA participated in the clinical diagnosis and the management of the patient. SA conceived of the study, participated in its design and coordination and guided the manuscript draft. All authors read and approved the final manuscript

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