Mode of inheritance of incontinentia pigmenti is:
**Core Concept**
Incontinentia pigmenti is a rare X-linked dominant disorder characterized by skin, hair, teeth, and central nervous system abnormalities. The disease is caused by mutations in the IKBKG gene, which encodes a component of the NF-ΞΊB signaling pathway. The mode of inheritance of this disorder is determined by the genotype of the affected individual.
**Why the Correct Answer is Right**
Incontinentia pigmenti is inherited in an X-linked dominant pattern, meaning that the mutated gene is located on the X chromosome and a single copy of the mutated gene is sufficient to cause the condition. Females with the mutated gene have a 50% chance of passing it to each daughter and a 50% chance of passing the normal X chromosome to each daughter. Males with the mutated gene typically do not survive to birth or die shortly after birth due to the detrimental effect of the mutated gene on development. The IKBKG gene plays a crucial role in the regulation of the NF-ΞΊB signaling pathway, which is essential for the development and function of various cell types.
**Why Each Wrong Option is Incorrect**
* **Option A:** Incontinentia pigmenti is not inherited in an autosomal dominant pattern, as it is linked to the X chromosome and affects females more frequently than males.
* **Option B:** Incontinentia pigmenti is not inherited in an autosomal recessive pattern, as a single copy of the mutated gene is sufficient to cause the condition.
* **Option D:** Incontinentia pigmenti is not inherited in an autosomal recessive pattern with variable penetrance, as the disease is caused by a specific mutation in the IKBKG gene rather than by a combination of different alleles.
**Clinical Pearl / High-Yield Fact**
Incontinentia pigmenti is a rare X-linked dominant disorder that can be distinguished from other skin conditions by its characteristic stages of development, including wart-like lesions, verrucous lesions, hyperpigmentation, and atrophy of the skin.
**Correct Answer:** C.