A Case of Skin Lesion in a Child and Radiological Lesions in His Father

Jeanne Renuy, Severine Audebert-Bellanger, Corinne Collet, Laurent Misery, Claire Abasq-Thomas
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引用次数: 0

Abstract

A 4-year-old girl was attended because of multiple, yellowish papules and nodules coalescing into ‘cobblestone’ naevoid plaques on her ankle and her lumbar area (Figure 1). They had been noticed 9 months prior by her parents. The plaques were asymptomatic and there were no other skin lesions (such as achromic macules). Dermatologic examination of her parents was normal. Six months later, the child's father, who had been attended for pain in his knees, brought his X-rays (Figure 2) to the dermatologic follow-up visit.

BOS is a rare, benign, autosomal dominant genetic skin and bone disorder affecting around 1 in 20,000 worldwide; the exact incidence and prevalence are unknown. BOS clinically manifests as connective tissue nevi, also described as collagenomas, elastomas or dermatofibrosis lenticularis. Earlier studies have reported two distinct forms of BOS: (1) with symmetrical, yellow or skin-coloured eruptions of small, uniform, lichenoid papules and (2) more frequently seen, with larger, often grouped, yellowish nodules asymmetrically distributed.

BOS can also manifest as sclerotic bone lesions, as in the case of OPK: these are typically benign and are usually fortuitously found [1]. The main differential diagnosis of OPK includes bone metastases of malignant cancers when the genetic status is unknown. An accurate diagnosis is therefore important [2].

BOS is due to the heterozygous variants in the gene LEMD3, which encodes for the nuclear membrane protein LEMD3, causing its loss of function by haploinsufficiency of the protein [3]. The LEMD3 protein is involved in the TGF-beta signalling pathway, whose deregulation can induce connective tissue lesions in the skin and the bones by an unknown mechanism [2].

BOS is characterized by a high phenotypic variability and an incomplete penetrance, which also depends on age [4, 5]. A systematic review in 2016 showed that bone lesions tend to appear later in life of patients presenting BOS: 46% of those aged 8 or under presented with lesions of OPK, whereas 88% of affected adults had such bone lesions [6]. By contrast, skin lesions appear first and tend to become less pronounced with time and sometimes disappear.

Based on our observation, we first recommend a dermatological examination of the parents of children suspected of having BOS. Second, we suggest a review of any previous radiological examinations of parents for the areas of interest. The prescription of new X-rays for parents may be relevant if there are no existing ones.

In a child with isolated typical skin lesions without any known family history, genetic analysis alone could be discussed as a first step. Radiological testing may be suggested in the absence of an identified pathogenic mutation, as there are cases of clinically confirmed BOS without a mutation [4].

Molecular confirmation of this rare diagnosis seems appropriate, not only to confirm the diagnosis but also to alert patients to the possibility of benign bone involvement.

The patient's age, therefore, determines the diagnosis approach of BOS. Our observation confirms this variance, with the presence of isolated cutaneous lesions in the child and the father showing only bone involvement.

This article was co-written and/or corrected by Dr Renuy, Dr Abasq and Pr Misery. The follow-up of the patient was performed by Dr Abasq and Dr Audebert-Bellanger, and the diagnosis was confirmed by Pr Collet.

The parents/guardians of minor patient have given written informed consent for their child's participation in the study, as well as for the use of their child's deidentified, anonymized, aggregated data and case details (including photographs) for publication. Ethical Approval: not applicable.

The authors declare no conflicts of interest.

儿童皮肤病变及父亲放射学病变1例
一名4岁女孩因其脚踝和腰椎区域出现多发黄色丘疹和结节合并成“鹅卵石”状痣样斑块而就诊(图1)。她的父母9个月前就注意到了。斑块无症状,无其他皮肤病变(如色斑)。父母皮肤检查正常。6个月后,因膝盖疼痛就诊的孩子的父亲带着他的x光片(图2)去皮肤科随访。BOS是一种罕见的、良性的、常染色体显性遗传的皮肤和骨骼疾病,全世界每20000人中就有1人患病;确切的发病率和流行率尚不清楚。BOS临床表现为结缔组织痣,也被称为胶原瘤、弹性瘤或皮纤维化透镜体。早期的研究报告了两种不同形式的BOS:(1)对称的,黄色或皮肤颜色的小的,均匀的,地衣样丘疹;(2)更常见的,较大的,通常成组的,不对称分布的黄色结节。BOS也可以表现为硬化性骨病变,如OPK:这些通常是良性的,通常是偶然发现的。当遗传状况未知时,OPK的主要鉴别诊断包括恶性肿瘤的骨转移。因此,准确的诊断非常重要。BOS是由于编码核膜蛋白LEMD3的基因LEMD3存在杂合变异体,导致该基因[3]单倍体功能不足而丧失功能。LEMD3蛋白参与tgf - β信号通路,其失调可通过未知机制诱导皮肤和骨骼的结缔组织病变。BOS的特点是高表型变异性和不完全外显率,这也取决于年龄[4,5]。2016年的一项系统综述显示,骨病变往往出现在BOS患者的生命后期:8岁及以下患者中有46%出现OPK病变,而88%的受影响成年人有此类骨病变。相比之下,皮肤损伤首先出现,随着时间的推移往往变得不那么明显,有时会消失。根据我们的观察,我们首先建议对怀疑患有BOS的儿童的父母进行皮肤科检查。其次,我们建议回顾任何以前的放射检查的家长感兴趣的领域。如果没有现有的x光处方,给父母的新x光处方可能是相关的。对于没有任何已知家族史的孤立的典型皮肤病变的儿童,单独的遗传分析可以作为第一步进行讨论。在没有确定致病突变的情况下,可能建议进行放射检查,因为有临床确诊的BOS病例没有突变[4]。分子证实这种罕见的诊断似乎是适当的,不仅要确认诊断,而且要提醒患者良性骨受累的可能性。因此,患者的年龄决定了BOS的诊断方法。我们的观察证实了这种差异,在孩子身上存在孤立的皮肤病变,而父亲只显示骨骼受累。本文由Renuy博士、Abasq博士和Misery博士共同撰写和/或修改。Abasq医生和Audebert-Bellanger医生对患者进行了随访,并由Collet医生证实了诊断。未成年患者的父母/监护人已书面同意其孩子参与研究,并同意使用其孩子的去身份、匿名、汇总的数据和病例详细信息(包括照片)进行出版。伦理批准:不适用。作者声明无利益冲突。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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