Multiple familial and pigmented basal cell carcinomas in early childhood – Bazex–Dupré–Christol syndrome

Authors

  • F. Abuzahra,

    1. Department of Dermatology, Zaans Medical Center, Zaandam, The Netherlands
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    • These authors contributed equally to this manuscript.

  • L.J.M.T. Parren,

    1. Department of Dermatology
    2. GROW – School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), Maastricht
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    • These authors contributed equally to this manuscript.

  • J. Frank

    Corresponding author
    1. Department of Dermatology
    2. GROW – School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), Maastricht
      J. Frank. E-mail:j.frank@mumc.nl
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  • Funding support
    This study was not supported.

  • Conflict of interest
    None declared.

J. Frank. E-mail:j.frank@mumc.nl

Abstract

Background  Bazex–Dupré–Christol syndrome (BDCS) is an X-linked dominantly inherited disorder affecting hair follicle structures. Currently, hypotrichosis, follicular atrophoderma and basal cell carcinomas are considered frequent symptoms of the disorder whereas milia are supposed to reflect infrequent clinical signs. Usually, basal cell carcinomas in this disease manifest from the second decade of life onwards.

Case report  Here, we studied a novel multigeneration family of German origin with BDCS. Interestingly, two family members developed pigmented basal cell carcinomas in early childhood, at the age of 3 and 5 years, respectively. The differentiation from other pigmented lesions was accomplished by both dermoscopy and histopathology. A thorough survey of the current literature revealed that milia were present in almost all patients with BDCS reported, as is the case in our family.

Conclusions  We suggest that milia should also be considered frequent symptoms in BDCS. For the first time, to the best of our knowledge, we describe the occurrence of pigmented basal cell carcinomas in BDCS during the first decade of life. Our observation emphasizes the importance of screening for cutaneous malignancies in this disorder already at young age.

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