Coexistence of Incontinentia Pigmenti and Pituitary Aplasia in a Female Child

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous ectodermal disorder. It is caused by IKBKG gene mutations, leading to nuclear factor-kappa B (NF-kB) signaling pathway dysfunction. Skin involvement occurs in almost all patients. IP may also involve teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. However, endocrine involvement, and specifically the coexistence of IP with complete pituitary aplasia, has not been previously documented in a patient with genetically confirmed IP. We describe a four-year-old female with genetically confirmed IP referred to Paediatric Endocrinology clinic due to short stature and poor growth velocity. Investigation revealed pituitary aplasia with ectopic neurohypophysis. The patient initiated hormone replacement therapy with recombinant human growth hormone and hydrocortisone, followed separately by desmopressin, with significant clinical improvement and no exacerbation of cutaneous manifestations. To our knowledge, this is the first documented case of complete pituitary aplasia in a patient with genetically confirmed IP, with a three-year clinical follow-up.