Acrodermatitis entropathica is seen with deficiency of –
**Question:** Acrodermatitis entropathica is seen with deficiency of –
* Core Concept: Acrodermatitis entropathica is a rare, inflammatory skin condition characterized by palmoplantar keratoderma, hyperkeratosis, and hyperkeratotic fissures. It is caused by deficiency in a specific enzyme, which is crucial for maintaining skin barrier function.
* Why the Correct Answer is Right: Acrodermatitis entropathica is primarily caused by deficiency in the enzyme Lysophospholipase D (LPLD), also known as epidermolytic lipase. This enzyme plays a crucial role in the degradation of lysophosphatidylcholine (LPC) present in the stratum corneum, which is essential for maintaining skin barrier integrity. A deficiency in LPLD leads to accumulation of LPC, causing skin inflammation and symptoms seen in acrodermatitis entropathica.
* Why Each Wrong Option is Incorrect:
1. **Option A:** Sphingomyelinase D (SMPD1) deficiency: This enzyme is involved in degradation of sphingomyelin and is not related to acrodermatitis entropathica.
2. **Option B:** Sphingomyelinase A (SMPD2) deficiency: Similar to Option A, this enzyme is also unrelated to acrodermatitis entropathica and plays a role in sphingomyelin degradation.
3. **Option C:** Keratohyalin granule deficiency: This is a separate disorder characterized by impaired keratinization and palmoplantar keratoderma, but is not caused by enzyme deficiency.
4. **Option D:** Keratinocyte apoptosis: Acrodermatitis entropathica is caused by a primary defect in skin barrier function, while keratinocyte apoptosis is a secondary event in various skin disorders and not the primary cause.
* Clinical Pearl: Acrodermatitis entropathica is a rare genetic disorder affecting skin barrier function due to deficiency of Lysophospholipase D (LPLD), also known as epidermolytic lipase. This enzyme is crucial in the degradation of lysophosphatidylcholine (LPC) in the stratum corneum, ensuring proper skin barrier maintenance. A deficiency in LPLD leads to accumulation of LPC, resulting in inflammation and symptoms of acrodermatitis entropathica.