Question

Multiple neurofibromatosis and "café au lait" spots

on the skin are typical of
A. Gardner's syndrome.
B. Plummer-Vinson syndrome.
C. Von Recklinghausen's disease.
D. Down syndrome.

Answer 1

Multiple neurofibromatosis and "café au lait" spots on the skin are characteristic of Von Recklinghausen's disease, or neurofibromatosis type 1, and not Gardner's syndrome, Plummer-Vinson syndrome, Down syndrome, or the other conditions listed.

Step-by-step explanation:

The multiple neurofibromatosis and "café au lait" spots on the skin are typical of Von Recklinghausen's disease, which is also known as neurofibromatosis type 1 (NF1). This genetic disorder is characterized by the growth of noncancerous tumors along the nerves in the skin, brain, and other parts of the body. The inheritance pattern of NF1 is autosomal dominant, which means that having just one copy of the affected gene from a parent can cause the disorder.

While "café au lait" spots are common in NF1, similar skin pigmentation changes can also be a feature of other genetic conditions, such as McCune-Albright syndrome and Legius syndrome; however, these conditions do not typically present with the neurofibromas that are characteristic of NF1.

It is important to distinguish between these conditions as they have different management strategies and associated health risks. Diagnosis typically involves a thorough clinical examination and may include genetic testing to confirm the mutation in the NF1 gene.