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Objectives <p>The aim of this study was to describe the cutaneous manifestations of patients with autoinflammatory bone diseases and to evaluate the relationship between cutaneous manifestations, bone involvement, and systemic inflammation in Turkish children.</p> Methods <p>This retrospective multicenter study was conducted in nine pediatric rheumatology centers between the years 2013 and 2023 in patients with a diagnosis of autoinflammatory bone disease with cutaneous manifestations. Demographic data, laboratory findings, cutaneous manifestations, bone involvement, and treatments were recorded.</p> Results <p>Two hundred and sixty-nine autoinflammatory bone disease patients were evaluated. Fifty-one patients with cutaneous manifestations (46 CRMO and five Majeed syndrome) were included in this study. The mean diagnostic delay was 16.1 ± 11.7 months in those with cutaneous manifestations and 25.3 ± 9.9 months in those with bone involvement (<i>p</i> = 0.02). The most common skin lesions were acne (<i>n</i> = 26), pustules (<i>n</i> = 23), and papules (<i>n</i> = 10). Patients with acne had more frequent male sex and higher ESR and CRP levels (<i>p</i> = 0.01, <i>p</i> = 0.03, and <i>p</i> = 0.04, respectively). Patients with pustules had a younger age at symptom onset and age at diagnosis and higher ESR and CRP levels (<i>p</i> = 0.04, <i>p</i> = 0.04, <i>p</i> = 0.04, <i>p</i> = 0.02, <i>p</i> = 0.03, respectively). In patients with CRMO, the mean time to remission was 2.1 ± 0.7 years for cutaneous manifestation and 2.9 ± 1.4 years for bone involvement (<i>p</i> = 0.04).</p> Conclusion <p>Skin lesions may appear before bone lesions in autoinflammatory bone diseases, serving as an important early warning sign for diagnosis. Lesions such as acne and pustules are more common in these conditions and may contribute to the severity of inflammation in autoinflammatory bone diseases.</p> <p><Table Float="No" ID="Taba"> <tgroup cols="1"> <colspec align="left" colname="c1" colnum="1" /> <tbody> <row> <entry align="left" colname="c1"> <p><b>Key Points</b></p> </entry> </row> <row> <entry align="left" colname="c1"> <p>• <i>Skin lesions, most commonly acne and pustules, are frequently observed in autoinflammatory bone diseases</i>.</p> <p>• <i>It would be appropriate to closely monitor skin involvement to manage the disease and inflammation</i>.</p> </entry> </row> </tbody> </tgroup> </Table></p>

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Cutaneous manifestations of autoinflammatory bone diseases: a retrospective multicenter study

  • 期刊论文

  • 发表日期：

    2025年12月10日

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  • Nimet Öner,
  • Müşerref Kasap Cüceoğlu,
  • Elif Kılıç Könte,
  • Eda Kayhan,
  • Mustafa Çakan,
  • Selcan Demir,
  • Özge Baba,
  • Gülşah Kılbaş,
  • Nihal Karaçayır,
  • Melike Mehveş Kaplan,
  • Ezgi Deniz Batu,
  • Mehmet Yıldız,
  • Aydan Yekedüz Bülbül,
  • Zahide Ekici Tekin,
  • Fatih Haşlak,
  • Ayşenur Paç Kısaarslan,
  • Yelda Bilginer,
  • Sevcan Azime Bakkaloğlu,
  • Selçuk Yüksel,
  • Mukaddes Kalyoncu,
  • Özgür Kasapçopur,
  • Seza Özen,
  • Banu Çelikel Acar

摘要

Objectives

The aim of this study was to describe the cutaneous manifestations of patients with autoinflammatory bone diseases and to evaluate the relationship between cutaneous manifestations, bone involvement, and systemic inflammation in Turkish children.

Methods

This retrospective multicenter study was conducted in nine pediatric rheumatology centers between the years 2013 and 2023 in patients with a diagnosis of autoinflammatory bone disease with cutaneous manifestations. Demographic data, laboratory findings, cutaneous manifestations, bone involvement, and treatments were recorded.

Results

Two hundred and sixty-nine autoinflammatory bone disease patients were evaluated. Fifty-one patients with cutaneous manifestations (46 CRMO and five Majeed syndrome) were included in this study. The mean diagnostic delay was 16.1 ± 11.7 months in those with cutaneous manifestations and 25.3 ± 9.9 months in those with bone involvement (p = 0.02). The most common skin lesions were acne (n = 26), pustules (n = 23), and papules (n = 10). Patients with acne had more frequent male sex and higher ESR and CRP levels (p = 0.01, p = 0.03, and p = 0.04, respectively). Patients with pustules had a younger age at symptom onset and age at diagnosis and higher ESR and CRP levels (p = 0.04, p = 0.04, p = 0.04, p = 0.02, p = 0.03, respectively). In patients with CRMO, the mean time to remission was 2.1 ± 0.7 years for cutaneous manifestation and 2.9 ± 1.4 years for bone involvement (p = 0.04).

Conclusion

Skin lesions may appear before bone lesions in autoinflammatory bone diseases, serving as an important early warning sign for diagnosis. Lesions such as acne and pustules are more common in these conditions and may contribute to the severity of inflammation in autoinflammatory bone diseases.

Key Points

• Skin lesions, most commonly acne and pustules, are frequently observed in autoinflammatory bone diseases.

• It would be appropriate to closely monitor skin involvement to manage the disease and inflammation.