What disease is associated with morphological and pigmentation abnormalities in the skin, hair, teeth, and nails?

• A. Vitamin D-resistant rickets
• B. Rett syndrome
• C. Aicardi syndrome
• D. Incontinentia pigmenti

Answer: (D)

Incontinentia pigmenti is a rare genetic disorder that primarily affects the skin, hair, teeth, and nails, leading to distinct morphological and pigmentation abnormalities. This condition is caused by mutations in the IKBKG gene, which plays a crucial role in the NF-κB signaling pathway, important for the immune response and inflammation.

Individuals with incontinentia pigmenti typically present with skin lesions that evolve through several stages, including blistering, wart-like growths, and later, changes in pigmentation that can appear as swirling patterns. These skin manifestations may be accompanied by abnormalities in hair (such as patchy alopecia), dental issues (like missing teeth or enamel hypoplasia), and nail dysplasia or changes in nail structure.

The other conditions listed do not primarily exhibit the same spectrum of skin, hair, teeth, and nail abnormalities. Vitamin D-resistant rickets is primarily associated with issues related to bone mineralization and does not encompass the broader range of symptoms seen in incontinentia pigmenti. Rett syndrome, while causing cognitive and physical development issues, does not lead to characteristic pigmentation changes. Aicardi syndrome involves a spectrum of neurological and ocular abnormalities and does not include the same types of morphological and pigmentation irregularities, particularly regarding the integument