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Stefanie Hübner1, Agnes Schwieger-Briel2, Kristin Technau-Hafsi1

  • 1Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Deutschland.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|January 18, 2022
PubMed
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Incontinentia pigmenti (IP) is a rare X-linked disorder affecting skin, teeth, hair, eyes, and the nervous system. This study highlights frequent extra-cutaneous manifestations, emphasizing the need for comprehensive, long-term patient evaluation.

Area of Science:

  • Genetics and Dermatology
  • Rare X-linked disorders
  • Neuroectodermal diseases

Context:

  • Incontinentia pigmenti (IP) is a rare, X-linked dominant inherited systemic disease.
  • IP primarily affects the skin but also involves other neuroectodermal tissues.
  • Previous reports may not fully capture the spectrum of IP manifestations.

Purpose:

  • To characterize the clinical and genetic features of Incontinentia pigmenti in a European cohort.
  • To assess the frequency and spectrum of cutaneous and extra-cutaneous manifestations.
  • To identify genetic variants associated with IP.

Summary:

  • A multicenter case series of 30 IP patients (28 female, 2 male) revealed frequent dental (81%), hair (78%), and neurological (53%) anomalies, exceeding prior reports.

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  • Stage I skin lesions were seen in 90% of clinically evaluated patients, with Stage IV noted by age one.
  • Genetic testing identified the common exon 4-10 deletion in 14/24 patients, alongside other pathogenic variants, including three novel mutations.

    • Impact:

    • Phenotypic variability in IP ranges from subtle skin issues to severe multisystemic disorders.
    • Highlights the importance of evaluating extra-cutaneous involvement at diagnosis and regularly thereafter.
    • Emphasizes that some IP manifestations may develop progressively over time, necessitating ongoing monitoring.