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Juvenile hyaline fibromatosis caused by mutation of the ANTXR2 gene: A case report* Volume 11, numéro 3, Juillet-Août-Septembre 2023

Illustrations


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Auteurs
1 Dysmorphology and congenital anomalies unit, paediatrics II department of the children’s hospital, CHU Ibn-Sina, Rabat, Morocco
2 Children’s Hospital Medical Emergency Department, CHU Ibn-Sina, Rabat, Morocco
3 Paediatric Rheumatology Unit, Children’s Hospital Paediatrics IV, CHU Ibn-Sina, Rabat, Morocco
4 Genomics Centre, Cheikh-Zaid University Hospital, Rabat, Morocco
5 Anatomy and pathological cytology laboratory, CHU Ibn-Sina, Rabat, Morocco
6 Children’s Hospital Radiology Department, CHU Ibn-Sina, Rabat, Morocco
7 Congenital anomalies research team, Faculty of Medicine and Pharmacy, Mohammed-V University, Rabat, Morocco

Case 1Juvenile hyaline fibromatosis and infantile systemic hyalinosis are two rare autosomal recessive diseases, linked to mutations in the gene encoding type 2 capillary morphogenesis protein. They are characterized by the accumulation of hyaline deposits in the skin and joints in the first disease, and in the skin, joints, and viscera in the second. We report a case of a child with juvenile hyaline fibromatosis due to a mutation in the ANTXR2 gene.Case reportA 2-year-old child gradually developed [...]