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Cited by 57Genetic and rare skin diseases.Skin and Cellular Biology Researchdental development and anomalies

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Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

Hadj-Rabia, Smaïl, Rimella, Aude, Smahi, Asma, Fraitag, Sylvie, Hamel-Teillac, Dominique, Bonnefont, Jean-Paul, de Prost, Yves, Bodemer, Christine·2011·Journal of the American Academy of Dermatology
DOI 10.1016/j.jaad.2010.01.045
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Abstract

Background Incontinentia pigmenti (IP) is a multisystem disorder, in which cutaneous symptoms can be accompanied by dental, ocular, and central nervous system defects. In adults, the clinical diagnosis of IP is based principally on the late onset of stage 4 lesions and their association with dental, nail, ocular, or central nervous system anomalies. Nevertheless, these lesions are often unrecognized. Objectives Our aim was assessment of IP manifestations in adults to clarify diagnostic criteria for mild forms of the disease, to help physicians detect adult IP in the presence of subtle lesions and avoid misdiagnosis. Method We conducted clinical and histologic examination of 25 adults with IP and nuclear factor-κB essential modulator gene rearrangement or mutations. Results Linear atrophic, hypopigmented, and hairless lesions (stage 4) are constant in adults. Apoptotic keratinocytes in the epidermis or dermis and atrophic hair follicles, with absence of arrector pili muscles, are frequently observed. In contrast, nipple anomalies are rare. Limitations We were unable to determine the age of the onset of IP stage 4 lesions. Conclusion Skin manifestations are constant in adult patients with IP. Histology is characteristic and could be considered as a minor diagnostic criterion of IP. Nipple anomalies also may be considered as a minor criterion. Detection of such subtle manifestations can evoke IP in patients with repeated miscarriages or unexplained neurologic manifestations.

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  • The classic cutaneous presentation of incontinentia pigmenti occurs in four stages.

    “The classic cutaneous presentation occurs in four stages[28]:”

    From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [28]

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Research works printed but not linked: 29

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Cited by

Sorted by citations

  • Ectodermal Dysplasia – An Overview and Update

    Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19

    “[27] The classic cutaneous presentation occurs in four stages [28] : Stage 1 (vesicular) – Tense vesicles and/or pustules, overlying an erythematous base along the Blaschko lines, which occur at birth or a few days later.”
    Background

Metadata

Authors
Hadj-Rabia, S., Rimella, A., Smahi, A., Fraitag, S., Hamel-Teillac, D., Bonnefont, J.-P., de Prost, Y., & Bodemer, C.
Affiliations
Hôpital Necker-Enfants Malades (FR)
ORCID
Venue
Journal of the American Academy of Dermatology
Publisher
Elsevier BV
Published
2011-03
Volume
64
Issue
3
Pages
508-515
ISSN
0190-9622 (ISSN-L)
DOI
10.1016/j.jaad.2010.01.045
OpenAlex
W2127434021
Cited by
57
References
0
Citations by year
2026: 3 · 2025: 1 · 2024: 3 · 2023: 1 · 2022: 5 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 2 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 7 · 2013: 8 · 2012: 5
FWCI
4.20
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Journal of the American Academy of Dermatology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
  • Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Keywords
incontinentia pigmenti, histopathology, diagnostic criteria, misdiagnosis, neurologic manifestations, unexplained miscarriage
MeSH terms
Adult, Aged, Biopsy, Female, Humans, Incontinentia Pigmenti, Middle Aged, Mutation, Skin, I-kappa B Kinase

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