Hyalinosis infantile systemical E78.9

Infantile systemic hyalinosis(hyaline fibromatosis syndrome) is an autosomal recessive inherited disorder characterized by abnormal growth of hyalinized fibrous tissue.

Initial manifestations occur in infancy and have additional visceral or systemic involvement, which can lead to early death. Accompanying symptoms are persistent diarrhea and increased susceptibility to infection. The massive nodular changes do not develop in this form.

The disease mainly affects the subcutaneous regions of the scalp, ears, neck, face, hands and feet. The face, knees and elbows are particularly frequently affected. In many cases, gingival hyperplasia is detectable.

It is difficult to classify infants or young children with a "hyaline fibromatosis syndrome" into an infantile or juvenile form. Infantile systemic hyalinosis is classified as a particularly severe variant of juvenile hyaline fibromatosis (for further discussion, see there). In this respect, some authors use the term "hyaline fibromatosis syndrome (HFS)" for both variants. Denadai et al (2012) proposed a 4-level classification system of the disease to reflect increasing severity, with grade 4 leading to early death due to severe clinical decompensation.

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