Department of Dermatology, Groupe Hospitalier Necker Enfants-Malades, Paris, France.
J Am Acad Dermatol. 2011 Jan;64(1):97-101. doi: 10.1016/j.jaad.2010.04.025. Epub 2010 Nov 5.
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive ossification of soft tissues. Clinical diagnosis is important because trauma from lesional biopsies can exacerbate the disease.
We sought to evaluate the frequency of scalp nodules as the presenting manifestation of FOP.
We describe 3 infants with FOP who presented with multiple neonatal scalp nodules. We reviewed all 43 cases of this disorder in the French FOP registry.
Scalp nodules were found in 40% of cases and usually represented the first manifestation of the disease. All 43 patients had characteristic skeletal malformations involving the great toes (n = 43), fingers (n = 12), and vertebrae (n = 3). Other abnormalities were cerebral malformations (n = 1) and alopecia (n = 2). Histopathologic analysis did not contribute to the differential diagnosis and was interpreted as cranial fasciitis in two patients.
Our study was retrospective, and the presence or absence of scalp nodules was not always recorded.
Neonatal scalp nodules associated with a characteristic malformation of the great toes are a common presentation of FOP. Physicians should be aware that lesional biopsies can exacerbate the disease and must therefore be avoided. A diagnosis of classic FOP can be confirmed by molecular genetic studies.
进行性骨化性纤维发育不良（FOP）是一种罕见的遗传性疾病，其特征为软组织进行性骨化。临床诊断很重要，因为病灶活检造成的创伤可使疾病恶化。
我们旨在评估头皮结节作为 FOP 首发表现的频率。
我们描述了 3 例以多发性新生儿头皮结节为表现的 FOP 婴儿。我们复习了法国 FOP 注册中心的该疾病的所有 43 例病例。
头皮结节在 40%的病例中被发现，通常代表疾病的首发表现。43 例患者均有特征性骨骼畸形，累及大足趾（n=43）、手指（n=12）和脊椎（n=3）。其他异常包括脑畸形（n=1）和脱发（n=2）。组织病理学分析无助于鉴别诊断，2 例患者被解读为颅骨筋膜炎。
我们的研究为回顾性，头皮结节的存在与否并非始终记录。
新生儿头皮结节伴大足趾特征性畸形是 FOP 的常见表现。医生应注意病灶活检可使疾病恶化，因此必须避免。经典 FOP 的诊断可通过分子遗传学研究得到确认。
