Two eye colors in one! How fascinating is that? This condition is called segmental heterochromia.
Heterochromia iridis is a condition characterized by abnormalities of the iris (the colored part of the eye). In people affected by complete heterochromia, the iris of one eye is a different color than the iris of the other eye. Segmental heterochromia occurs when areas of the same iris are different in color.
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Hundreds of cutaneous neurofibromas all over this patient’s body!!
Neurofibromatosis type 1 is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and café au lait spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.
NF-1 is caused by a mutation of a gene on the long arm of chromosome 17 which encodes a protein known as neurofibromin, which is a negative regulator of the Ras oncogene signal transduction pathway.
When Ras isn’t regulated, it is overexpressed. These are a family of proteins that are involved in cellular signal transduction. A cascade effect occurs when ras is “switched on” by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation, hence leading to neurofibromas.
Due to their benign nature, neurofibromas should be surgically excised only when symptomatic.
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Pancreatic cysts are saclike pockets of fluid on or in your pancreas, a large organ behind the stomach that produces hormones and enzymes that help digest food. Most pancreatic cysts aren‘t cancerous, and many don't cause symptoms. They're typically found during imaging testing for another problem.
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