Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene

Aim: To describe and evaluate the clinical and molecular findings of patients with incontinentia pigmenti (IP) in Greece. Methods: We examined 12 female patients, initially aged 2 weeks to 7 months with clinical diagnosis of IP. Standard tests were performed including skin biopsies and ocular, dental and neurologic examinations. Molecular analysis was carried out on 8 out of 12 cases. Results: The initial clinical examination was stage 1 (vesicular lesions), stage 2 (verrucous lesions) or stage 3 (hyperpigmented linear lesions of the trunk/limbs). At the final clinical examination, 10 of our patients had typical vesicular, verrucous or mixed hyper‐hypopigmented skin lesions which had persisted from the neonatal period; seven had delayed dentition or conical teeth; two had developmental delay; one had microcephaly and strabismus and two had scarring alopecia. In seven patients, deletion of exons 4–10 of the IKBKG gene was found. In one patient, skewed X‐inactivation was demonstrated and a novel mutation p.Gln332X was found. The mothers’ DNA analyses were all normal. Conclusion: In our sample, all the cases were sporadic and the diagnosis of IP was based mainly on clinical features and confirmed with skin histology. Molecular analysis was used to find the mutations, in some cases to confirm diagnosis and to identify the carriers, which are crucial for prenatal and preimplantation diagnosis.