Deficiency of E-cadherin is seen in?
**Core Concept**
E-cadherin is a transmembrane glycoprotein that plays a crucial role in cell-cell adhesion, particularly in epithelial tissues. It is essential for maintaining tissue structure and preventing epithelial-to-mesenchymal transition (EMT). Deficiency or dysfunction of E-cadherin has been implicated in various cancers and other disorders.
**Why the Correct Answer is Right**
The correct answer is associated with a type of skin cancer characterized by the loss of adhesion between skin cells, leading to the formation of characteristic blistering lesions. This condition is caused by a mutation in the CDH1 gene, which codes for E-cadherin. The absence of functional E-cadherin results in the disruption of cell-cell adhesion, allowing cancer cells to invade and metastasize.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it refers to a different type of skin cancer, characterized by the loss of skin pigmentation, not cell-cell adhesion.
**Option B:** This option is incorrect because it refers to a condition characterized by the abnormal growth of skin cells, not the loss of cell-cell adhesion.
**Option C:** This option is incorrect because it refers to a condition characterized by the abnormal contraction of muscles, not the loss of cell-cell adhesion.
**Clinical Pearl / High-Yield Fact**
E-cadherin deficiency is a hallmark of lobular breast carcinoma, a type of breast cancer that accounts for approximately 10% of all breast cancer cases.
**Correct Answer: D. Herlitz junctional epidermolysis bullosa.**