ArticleCureus2026
Coexistence of Incontinentia Pigmenti and Pituitary Aplasia in a Female Child.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
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.
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