SNP Shot: Genomic Insights

Hyaline fibromatosis syndrome is a condition characterized by the abnormal buildup of a clear, hyaline substance in various body tissues. It affects multiple areas, including the skin, joints, bones, and internal organs. The severity of the symptoms varies significantly. The most severe form, formerly known as infantile systemic hyalinosis, presents at birth or within the first few months of life and can be life-threatening. Milder cases, previously called juvenile hyaline fibromatosis, manifest in childhood and affect fewer body systems.

A key characteristic of hyaline fibromatosis syndrome is the development of non-cancerous tissue masses (nodules) under the skin, most often on the scalp. In more severe cases, these nodules also grow in muscles and internal organs, leading to pain and other complications. Some severely affected individuals experience protein-losing enteropathy due to nodule formation in the intestines. This results in severe diarrhea, failure to thrive, and significant weight loss (cachexia).

Another frequent symptom is the appearance of painful, pearly white or pink skin bumps on areas like the hands, neck, scalp, ears, and nose. These bumps can also appear in joint creases and the genital area. They vary in size and often increase in number over time.

Some individuals, particularly those with more severe symptoms, exhibit unusually dark skin (hyperpigmentation) around joints such as ankles, wrists, elbows, and fingers. Overgrowth of the gums (gingival hypertrophy) and thickened skin are also characteristic features.

Joint stiffness and pain are common, and many individuals develop joint contractures, which restrict movement. Some affected individuals require wheelchair assistance for mobility by adulthood. Bone abnormalities can also occur.

Despite significant physical limitations, mental development is typically unaffected. Individuals with milder symptoms can live into adulthood, while those with the most severe form often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.

Inheritance:

Hyaline fibromatosis syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to develop. Parents of an affected individual each carry one copy of the mutated gene but usually do not exhibit any signs or symptoms of the condition themselves.