Cowden Syndrome

External ears, nose, and mouth appear normal in appearance, with moist mucous membranes. Neck is supple with trachea in midline. There is no cervical adenopathy noted.

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

The patient underwent a colonoscopy to reveal a large sessile polyp. According to the findings of Dr. Scoma, the polyp showed infiltrating adenocarcinoma.

Head and Neck: Head of the patient round and symmetrical, no lesions or mass noted. Tracheal

There are so many types of diseases and disorders in this world. Some can lead to a lifetime of pain and others can lead to mortality. Robinow syndrome is a disorder that affects few people. This rare disorder is inherited to the fetus by the parents. This disorder comes in dominant form and recessive form. In dominant form you inherit the gene from only one of the parents. In recessive form you inherit the gene from both parents. In the recessive form the syndrome comes from mutations in the ROR2 gene. In the dominant form the syndrome is caused by the mutations in the WNT5A or DVL1 gene. The genes affect the development of the patient in its first years. Robinow syndrome affects both male and females. They have

Cell Carcinoma. It can occur in different areas of the body such as face, lip, scalp, neck hands

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The average birth length, 52.6cm, the growth parallels curve at or above 95%, and average birth weight is 4kg. For the head there are a metopic ridge, large fontanel, and prominent occiput. There are also coarse facial features and midface hypoplasia. This also involves linear ear lobe creases, posterior helical indentations, prominent eyes, and macroglossia. For the skeleton, there is advanced bone age, most pronounced during first 4 years. Patient could also have nevus flammeus, and even heart issues. Some rare neurologic situations are posterior fossa abnormalities, dandy-Walker malformation, and blake's pouch. There is an increased frequency of malformations and medical complications, including abdominal wall defects and visceromegaly involving liver, spleen, pancreas, kidneys, or adrenals.

Flat, grouped, oval shaped areas of macules that are different from the surrounding tissue hypo-pigmented and less than 0.5 cm spread across the upper chest above the bilateral nipple line. It is not palpable, slight scaly.

Once a decision is committed to by the cell, the decision cannot be undone. From the original zygote cell, proliferation occurs to form a multicellular blastula that all inherit the original genetic information. From this the ectoderm, endoderm, and mesoderm must form, and from there all the specialized cells of the organism must arise.

Although it is difficult to detect architectural distortion in its early stage, it is defined as tethering of glandular tissue (the presence of abnormal trabecular markings) with the production of radiating fine spicules unassociated with a central dense mass. It is very often associated with malignancy and may be is the only evidence of carcinoma as in

The lesion usually presents as an exophytic, multinodular neoplasm of the dermis or subcutaneous tissue.

Williams Syndrome is a genetic condition that effects about one in every ten thousand people worldwide. While William Syndrome does effect learning, there is no disconnect in social interaction. People with WS tend to be very highly social people and play strong roles in their communities as adults. Although people with WS have strengths they also have many weaknesses. Babies often have life-threatening cardiovascular problems right at birth, and on many occasions they need ongoing medical care growing up as a child. There is absolutely no treatment for WS which is what makes it so hard for them. People with William’s Syndrome can live a happy life like any of us no matter what race, gender, size, they can life just like any of us.

To confirm the definite diagnosis in E-CTCL, clinicopathological correlation often including multiple skin biopsies with histopathological and immunohistochemical investigations and in most cases staging examinations were needed.

A 58 year- old- man submitted to our hospital with abdominal distension and pain. He had not history of jaundice and any other digestive symptoms. His family history was unremarkable. Upon physical examination, vital signs were normal. There was hepatomegaly and abdominal tenderness epigastric region. Biochemical tests were normal. Tumor markers including α‑Fetoprotein (AFP), carcinoembryonic antigen (CEA) and CA 19-9 were within normal limits. Blood hepatitis B and hepatitis C tests were negative. Abdominal USG revealed a solid mass in the liver and a polyp in gall blander. MRI (Magnetic resonance imaging) showed a 9x8 cm regular shaped

The patient had tests ran such as an esophagogastroduodenoscopy (EGD) which stated the esophagus was estimated average. No granuloma or acid-fast bacilli(AFB) were seen, her duodenum was normal, but atrophic gastric mucosa was seen and enlarged folds with friable mucosa with lacy reticular pattern was found in gastric fundus. Therefore, an upper endoscopic ultrasound (EUS) was conducted. This showed that the patient had a 3.1cm x 1.8 cm heterogeneous mass lesion coming from the submucosa in the fundus with small anechoic spaces. Viscous serosanguinous liquid was obtained by fine needle aspiration. A gram stain confirmed negative of aspirate yet the AFB showed an excess