Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

• DOI: 10.1111/ddg.14638
• Publication Date: 2021-12-14T01:06:27Z
• Authors: Stefanie Hübner; Agnes Schwieger‐B...; Kristin Technau‐H...; Sorina Danescu; Adrian Baican; Martin Theiler; Lisa Weibel; Cristina Has
• Keywords: Incontinentia Pigmenti; Pigmentation disorder

Summary Background and objectives Incontinentia pigmenti is a rare X‐linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, central nervous system. Patients methods This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty were evaluated clinically genetically, another ten only genetically. Results The included 28 females two males median age years. Cutaneous manifestations present in all 20 clinical data. Stage I observed 90 % those patients. IV early one year age. Dental (81 %), hair (78 %) neurological anomalies (53 more frequent than previously reported. Fourteen biopsies showed typical features corresponding stage. Genetic testing 24 revealed common exon 4–10 deletion 14 cases seven pathogenic variants, unpublished mutations. In cases, no genetic alterations found. Conclusions this study, phenotype ranged from subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous should be time diagnosis regular intervals, some may develop over time.