Marta Marcia, Paola Coppo, Giuseppe Alberto Annoni, Gaetana Ferraro, Gabriella Agnoletti, Giuseppe Antonio Mazza
City of Health and Science Hospital.
Italy
Annals of Pediatric Cardiology
Ann Pediatr Cardiol 2023; 16: 297-300
DOI: 10.4103/apc.apc_75_23
Abstract
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes