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一个显示明希迈尔病的皮肤结节。

A cutaneous nodule revealing Münchmeyer's disease.

作者信息

Rkiek Yasmine, El Jouari Ouiame, Rimani Mouna, Haddad Meriem, Gallouj Salim

机构信息

Department of Dermatology, University Hospital Center of Tangier, Tetouan Al Hoceima, Faculty of Medicine and Pharmacy Tangier Abdelmalek Essaadi University, 90100 Tangier, Morocco.

Department of Pathological Anatomy Hassan, 10020 Rabat, Morocco.

出版信息

Oxf Med Case Reports. 2025 May 28;2025(5):omaf045. doi: 10.1093/omcr/omaf045. eCollection 2025 May.

Abstract

Münchmeyer's disease, also known as fibrodysplasia ossificans progressiva, is an extremely rare congenital condition affecting the musculoskeletal system, occurring in approximately 1 in 2 million people. We report the case of a 13-month-old male toddler who presented with dorsal cutaneous nodules. Examination revealed a firm, immobile nodule and congenital hallux valgus with microdactyly. Imaging studies showed ossifications of the subcutaneous tissues, and genetic testing confirmed a mutation in the ACVR1 gene, leading to the diagnosis of Münchmeyer's disease. This disabling, progressive condition is characterized by extraskeletal ossification and congenital big toe malformations. The precocity of the diagnosis in this case is noteworthy, as Münchmeyer's disease is often misdiagnosed, leading to significant delays and complications. Awareness of this rare condition is important for dermatologists to avoid missed or delayed diagnoses, as early recognition and appropriate management are crucial.

摘要

明希迈尔病,又称进行性骨化性纤维发育不良,是一种极其罕见的先天性疾病,影响肌肉骨骼系统,发病率约为二百万人中有一人。我们报告了一名13个月大男童的病例,该男童出现背部皮肤结节。检查发现一个坚硬、固定的结节以及先天性拇外翻伴多指畸形。影像学检查显示皮下组织骨化,基因检测证实ACVR1基因发生突变,从而确诊为明希迈尔病。这种致残性、进行性疾病的特征是骨骼外骨化和先天性大脚趾畸形。该病例诊断的早熟值得注意,因为明希迈尔病常被误诊,导致显著延误和并发症。认识这种罕见疾病对皮肤科医生很重要,可避免漏诊或延误诊断,因为早期识别和适当管理至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1278/12118052/4ad02a3ce5b9/omaf045f1.jpg

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