Fibromatoses, Hyalinoses and Stiff Skin Syndrome

Infantile systemic hyalinosis in identical twins

“…TheANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries) and is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. In ISH the defective synthesis of glycosaminoglycans which results in the abnormalities in collagen synthesis and in the CMG2 gene that binds to type 4 collagen and laminins which provide strength to the basement membrane (11,12). The accumulation of an abnormal collagen in different parts of the body is seen in ISH which is responsible for the symptoms.…”

Paradoxes in dermatology

“…Similarly, nodular fasciitis, a reactive myofibroblastic proliferation shows completely benign histopathological features, but paradoxically, it is a more rapidly growing lesion than any other potentially more aggressive process. [92]…”