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- W2887637676 abstract ": Hyaline fibromatosis syndrome (HFS) is an autosomal recessive (AR) condition featured by abnormal hyaline deposition in the body tissues, primarily skin and mucous membranes. It presents with pearly papules and fleshy nodules on the skin. Additional features include progressive joint contractures, gingival hypertrophy, osteopenia, and osteoporosis. Failure to thrive (FTT) and protein-losing enteropathy (PLE) have also been observed. PLE might lead to some immunodeficiency and infection susceptibility. Herein, we report a 2-year-old girl from consanguineous parents who was first diagnosed as a common variable immunodeficiency (CVID) based on recurrent upper respiratory infections, severe diarrhea, and the decreased level of IgG. Her infections were controlled after monthly IVIG infusions. She developed contracture of shoulders, knees, and hips. She also suffered from gingival hypertrophy, skin nodules, and pearly papules on her face and neck. The histopathological examination of the lesions confirmed the diagnosis of HFS. PLE induced a secondary immunodeficiency due to the low level of IgG, which led to recurrent infections." @default.
- W2887637676 created "2018-08-22" @default.
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- W2887637676 date "2018-08-07" @default.
- W2887637676 modified "2023-10-14" @default.
- W2887637676 title "Primary Immune Deficiency or Infantile Hyaline Fibromatosis? A Case Report" @default.
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- W2887637676 doi "https://doi.org/10.5812/pedinfect.62182" @default.
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