In Tuberous sclerosis all are seen except:
**Core Concept**
Tuberous sclerosis is a genetic disorder characterized by the growth of non-cancerous tumors in various parts of the body, including the skin, brain, kidneys, and other organs. It is caused by mutations in either the TSC1 or TSC2 gene, leading to the activation of the mTOR pathway and subsequent cell proliferation.
**Why the Correct Answer is Right**
The correct answer is related to the characteristic features of tuberous sclerosis.
* **Angiofibromas** are small, benign growths that typically appear on the face, particularly around the nose and cheeks, in children with tuberous sclerosis.
* **Subependymal giant cell astrocytomas** (SEGA) are a type of tumor that develops in the brain, usually in the wall of the lateral ventricles.
* **Renal angiomyolipomas** are benign tumors that originate from the blood vessels and smooth muscle cells of the kidneys.
**Why Each Wrong Option is Incorrect**
* **Option A:** **Calcifications in the basal ganglia** are a characteristic feature of tuberous sclerosis, particularly in the thalamus and periventricular regions.
* **Option B:** **Retinal hamartomas** are small, benign growths that appear on the retina, which can be seen in patients with tuberous sclerosis.
* **Option C:** **Lymphangioleiomyomatosis** (LAM) is a rare lung disease that affects women with tuberous sclerosis, characterized by the growth of abnormal smooth muscle cells in the lungs.
**Clinical Pearl / High-Yield Fact**
Tuberous sclerosis is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. This is in contrast to autosomal recessive disorders, which require two copies of the mutated gene.
**Correct Answer:** D