Tis true my form is something odd but

'Tis true, my form is something odd but blaming me, is blaming God, Could I create myself anew I would not fail in pleasing you. If I could reach from pole to pole or grasp the ocean with a span, I would be measured by the soul The mind's the standard of the Man. Isaac Watts

CT - RECONSTRUCTION

Proteus syndrome

Cowden syndrome

Cowden syndrome n n n n What is Cowden syndrome? Cowden syndrome is an inherited disorder characterized by multiple hamartomas and an increased risk of certain cancers. How common is Cowden syndrome? Because Cowden syndrome can be difficult to diagnose, the exact prevalence is unknown; however, it probably occurs in at least 1 in 200, 000 people. What are the signs and symptoms of Cowden syndrome? Almost everyone with this condition has hamartomas. These small, noncancerous growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Noncancerous breast and thyroid disease are also common. Other symptoms of Cowden syndrome can include an enlarged head; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation

Bannayan-Riley-Ruvalcaba Syndrome? n n n n n What is Bannayan-Riley-Ruvalcaba Syndrome? Bannayan-Riley-Ruvalcaba syndrome (BRR) is an uncommon condition characterized by hamartomatous polyps of the small and large intestine. BRR is associated with larger head size (macrocephaly) benign fatty tumors (lipomas) blood vessel changes (hemangiomas) thyroid problems Male patients often have some freckling on the penis Onset of features usually begins in childhood. Babies are typically born with a larger head, longer body, and usually weigh more than 9 pounds (4 kg). After birth their growth slows and as a result, children and adults are of normal height and size. Sometimes children will also have decreased muscle tone and/or learning difficulties and developmental delay.

Bannayan-Riley-Ruvalcaba Syndrome? n n n Benign fatty tumors under the skin or in the abdomen and/or intestinal polyps (most commonly hamartomatous polyps on the intestine) are common in affected individuals. Hemangiomas, or raised red birthmarks caused by blood vessel changes, may also be present. Hemangiomas can be either internal (on the internal organs) or external (on the skin). Patients diagnosed with Bannayan-Riley-Ruvalcaba syndrome do not necessarily have all the same features. Only 50 percent of children have developmental delays and learning problems, while the other 50 percent have normal development. Only 45 percent of affected individuals will develop polyps on the intestine.

Proteus syndrome n n : קריטריונים – המשך Category A (1 required) - Connective tissue nevus Category B (2 required) n n Epidermal nevus Disproportionate overgrowth of 1 or more of the following: limbs, digits, cranium, vertebrae, external auditory meatus, spleen, or thymus Bilateral ovarian cystadenomas or a parotid monomorphic adenoma in a patient younger than 20 years Category C (all 3 required) n n n Lipomas or focal atrophy of adipose tissue Capillary, venous, or lymphatic malformation Facial features including dolichocephaly, a long face, downslanting palpebrae, ptosis, depressed nasal bridge, anteverted nares, and open mouth position while at rest

Proteus syndrome : אבחנה מבדלת n n n Klippel-Trenaunay syndrome Parkes Weber syndrome Maffucci syndrome Neurofibromatosis type I Epidermal nevus syndromea (formerly epidermal nevus syndrome or Solomon syndrome) Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Hemihyperplasia/lipomatosis syndrome Familial lipomatosis Symmetrical lipomatosis Encephalocraniocutaneous lipomatosis