Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12
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DOI：
10.1111/bjd.16893
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发表时间：
2018-11-01
影响因子：
10.3
通讯作者：
Woods, G.
中科院分区：
文献类型：
--
作者：
Moss, C.;Srinivas, S. M.;Woods, G.
研究背景面中部幼儿表皮脱落综合征（MiTES）是最近报道的三个无关儿童的一种情况。出生后第一年的习惯性抓挠在鼻子和眼睛周围造成了深深的、慢性的疤痕。一个孩子有轻微的神经功能缺损，但没有其他证据表明对疼痛不敏感。双侧分布和定位于面中部将MiTES与其他自我造成的皮肤损伤（如三叉神经营养综合征）区分开来。早期的一项研究对来自一个爱尔兰血缘家庭的五个兄弟姐妹进行了研究，这些兄弟姐妹的病变对应于MiTES加上其他感觉缺陷，结果显示遗传性感觉和自主神经病变VIII型（HSAN 8）基因中的纯合突变，PRDM 12。目的方法进一步研究MiTES病例，包括PRDM12分析。我们描述了五个进一步的儿童，从四个家庭，面部病变的典型MiTES，在其中进行了PRDM12的突变分析。结果结论在三个家族的五名受影响个体中的四名中发现了PRDM 12多聚丙氨酸片段的纯合或复合杂合致病性扩展。我们在5例MiTES患者中发现4例PRDM12的常染色体隐性突变，这扩展了PRDM12突变的表型谱，PRDM12突变通常导致HSAN 8，其特征是肢体、嘴唇和舌头的自残伤口。相比之下，MiTES显示严重的面中部病变，几乎没有（如果有的话）全身疼痛不敏感的证据。这种情况可能是遗传异质性的，其他先天性对疼痛和HSAN基因（如SCN 11 A）不敏感可能也有牵连。这种新的理解的性质，螨，它可以伪装成factories疾病，将促进适当的管理。
Background Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and eyes. One child had a mild neurological deficit but there was no other evidence of insensitivity to pain. Bilateral distribution and localization to the midface distinguish MiTES from other causes of self-inflicted skin damage such as trigeminal trophic syndrome. An earlier study of five siblings from a consanguineous Irish family, with lesions corresponding to MiTES plus other sensory deficits, showed homozygous mutations in a gene for hereditary sensory and autonomic neuropathy type VIII (HSAN8), PRDM12. Objectives Methods To study further cases of MiTES, including analysis of PRDM12. We describe five further children, from four families, with facial lesions typical of MiTES, in whom mutation analysis of PRDM12 was carried out. Results Conclusions Homozygous or compound heterozygous pathogenic expansions of the PRDM12 polyalanine tract were found in four of five affected individuals, in three families. Our finding of autosomal recessive mutations in PRDM12 in four of five patients with MiTES extends the phenotypic spectrum of PRDM12 mutations, which usually cause HSAN8, characterized by mutilating self-inflicted wounds of the extremities, lips and tongue. By contrast, MiTES shows severe midfacial lesions with little if any evidence of generalized pain insensitivity. The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated. This new understanding of the nature of MiTES, which can masquerade as factitious disease, will facilitate appropriate management.