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丁香综合征:一种具有异常特征的罕见过度生长疾病——一种不常见的表型?

Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype?

作者信息

Mahajan Vikram K, Gupta Mrinal, Chauhan Pushpinder, Mehta Karaninder S

机构信息

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, (Tanda), Himachal Pradesh, India.

出版信息

Indian Dermatol Online J. 2019 Jul-Aug;10(4):447-452. doi: 10.4103/idoj.IDOJ_418_18.

DOI:10.4103/idoj.IDOJ_418_18
PMID:31334068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6615369/
Abstract

CLOVES syndrome characterized by ongenital ipomatous vergrowth, ascular malformations, pidermal nevi, and keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. The parents did not consent for magnetic resonance imaging and genetic studies because of financial constraints. The CLOVES syndrome has emerged as an uncommon yet distinct clinical entity with some phenotypic variations. Its diagnosis is usually from cutaneous, truncal, spinal, and foot anomalies in clinical and radioimaging studies. Proteus syndrome remains the major differential.

摘要

CLOVES综合征的特征为先天性脂肪瘤过度生长、血管畸形、表皮痣和骨骼异常,是一种最近描述的由[基因名称]合子后激活突变引起的散发性综合征。这个3岁男孩的父母非近亲结婚且身体健康,他患有表皮疣状痣、下肢长度差异和双侧膝外翻、前腹壁脂肪瘤肿块、L2和L3椎体中央喙突以及左侧额骨纤维发育不良。眼部和牙齿异常(上睑下垂、内斜视、犬齿萌出延迟、牙发育不全)、颅骨同侧不对称畸形以及左侧大脑半球增大伴同侧轻度脑室扩大是他所特有的,表明是一种不常见的表型。由于经济限制,父母不同意进行磁共振成像和基因研究。CLOVES综合征已成为一种不常见但独特的临床实体,有一些表型变异。其诊断通常基于临床和影像学研究中的皮肤、躯干、脊柱和足部异常。变形综合征仍然是主要的鉴别诊断对象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f48/6615369/e3b60b619bdc/IDOJ-10-447-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f48/6615369/96bea82eb96d/IDOJ-10-447-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f48/6615369/e3b60b619bdc/IDOJ-10-447-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f48/6615369/96bea82eb96d/IDOJ-10-447-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f48/6615369/e3b60b619bdc/IDOJ-10-447-g002.jpg

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