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Master Thesis

Une panniculite pédiatrique atypique : peut-il s’agir d’une lipoatrophie annulaire des chevilles ?

Abstract : Objective: To determine with a literature review the medium- and long-term evolution of the annular lipoatrophy of the ankles (ALA). To propose new hypothesis to explore in this pathology to understand its physiopathology with the study of a case report. Design: A case report and literature review. Case report: A 10-year-old boy presented with panniculitis of both ankles rapidly atrophic after an Ear, Nose and Throat (ENT) infection. Etiologies studies were negative, no treatment could prevent the evolution to ALA. It was associated with auto-immune myositis and hepatitis diseases. A neurodevelopmental delay evoked a commune genetic cause. Results: Literature review and discussion with different authors couldn’t answer the first objective. Whole Exome Sequencing found a match for the PTPRC (or CD45) gene in which we have identified a variant on the initiation codon. Functions of this molecule in immunity, neurology and adipocytes coincide with symptoms of the reported case. An international study is underway to find the implication of variant in PTPRC in other ALA cases. Conclusion: ALA should be evoked in case of atrophy panniculitis despite there is no consensus for medical treatment. A better understanding of its physiopathology could help to find a specific therapy. The hypothesis of CD45 involvement presented in our study should be considered.
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Master Thesis
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Submitted on : Monday, September 21, 2020 - 6:08:13 PM
Last modification on : Tuesday, November 24, 2020 - 4:00:12 PM
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  • HAL Id : dumas-02944901, version 1


Quentin Joliot. Une panniculite pédiatrique atypique : peut-il s’agir d’une lipoatrophie annulaire des chevilles ?. Médecine humaine et pathologie. 2020. ⟨dumas-02944901⟩



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