骨发育异常性皮肤老化症是否诊断不足？
Is geroderma osteodysplastica underdiagnosed?
作者信息
Hunter A G
机构信息
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
出版信息
J Med Genet. 1988 Dec;25(12):854-7. doi: 10.1136/jmg.25.12.854.
Abstract
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.
摘要
本文报告了一名患有轻度骨皮肤发育异常症的女孩，旨在提高对这种可能诊断不足的常染色体隐性疾病的关注度。该综合征的重要体征包括面部下垂、双下巴，伴有一定程度的颧骨发育不全和下颌前突，皮肤松弛但无弹性过度，在四肢最为明显，以及可能与骨折和椎体塌陷相关的骨质疏松症。
相似文献
1
Is geroderma osteodysplastica underdiagnosed?骨发育异常性皮肤老化症是否诊断不足？
J Med Genet. 1988 Dec;25(12):854-7. doi: 10.1136/jmg.25.12.854.
2
Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity.骨发育不良性皮肤老化症：两例病例报告及面部畸形的手术矫正
Am J Med Genet. 1993 Aug 15;47(2):261-7. doi: 10.1002/ajmg.1320470224.
3
Geroderma osteodysplastica. Report of a new family.
Pediatr Dermatol. 2006 Sep-Oct;23(5):467-72. doi: 10.1111/j.1525-1470.2006.00285.x.
4
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.三种常染色体隐性遗传性皮肤松弛综合征的鉴别特征：皮肤松弛症IIA型、皮肤松弛症IIB型和成骨不全性皮肤松弛症。
Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635.
5
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.骨发育不良性皮肤异色症/皮肤皱缩综合征：三例报告及文献简要回顾
Pediatr Dermatol. 2008 Jan-Feb;25(1):66-71. doi: 10.1111/j.1525-1470.2007.00586.x.
6
Geroderma osteodysplastica. A report of two affected families.骨发育异常性皮肤异色症。两个患病家族的报告。
Hum Genet. 1978 Feb 16;40(3):311-24. doi: 10.1007/BF00272192.
7
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.常染色体隐性遗传性皮肤松弛症患者的骨密度降低及治疗
Acta Paediatr. 2009 Mar;98(3):490-4. doi: 10.1111/j.1651-2227.2008.01145.x. Epub 2008 Dec 4.
8
Gerodermia Osteodysplastica.
Indian J Pediatr. 2004 Dec;71(12):e77-79.
9
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
Am J Med Genet. 1989 Nov;34(3):305-12. doi: 10.1002/ajmg.1320340302.
10
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.通过全外显子组测序在一名患有骨发育不全性早老症的日本患者中鉴定出的新型复合杂合突变。
Eur J Med Genet. 2017 Dec;60(12):635-638. doi: 10.1016/j.ejmg.2017.08.002. Epub 2017 Aug 12.
引用本文的文献
1
Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.伴有大血管转位的脂肪发育异常性皮肤病：1例报告及文献复习
Case Rep Genet. 2024 Nov 21;2024:1397713. doi: 10.1155/crig/1397713. eCollection 2024.
2
Orthognathic Surgery with Interdisciplinary Digital Planning in Patients with Geroderma Osteodysplasticum: A Case Report.骨皮肤发育不良患者的正颌外科跨学科数字化规划：病例报告
J Pers Med. 2023 Nov 4;13(11):1578. doi: 10.3390/jpm13111578.
3
Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.临床和分子阐明弹力纤维松解症：内稳态范例。
Adv Exp Med Biol. 2021;1348:273-309. doi: 10.1007/978-3-030-80614-9_13.
4
The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation.高尔基运输机制与蛋白质糖基化之间的密切关系。
Cells. 2020 Dec 10;9(12):2652. doi: 10.3390/cells9122652.
5
Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab mice tibiae: A mouse model of premature aging.研究戈拉布小鼠胫骨的组织组成、全骨形态和力学行为：一种早衰小鼠模型。
J Biomech. 2017 Dec 8;65:145-153. doi: 10.1016/j.jbiomech.2017.10.018. Epub 2017 Oct 25.
6
Membrane trafficking in osteoblasts and osteoclasts: new avenues for understanding and treating skeletal diseases.成骨细胞和破骨细胞中的膜转运：理解和治疗骨骼疾病的新途径。
Traffic. 2012 Oct;13(10):1307-14. doi: 10.1111/j.1600-0854.2012.01395.x. Epub 2012 Jul 24.
7
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.骨发育不全性皮肤异色症由SCYL1BP1（一种与Rab-6相互作用的高尔基体蛋白）的突变引起。
Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.
本文引用的文献
1
Congenital cutis laxa and osteoporosis.先天性皮肤松弛症和骨质疏松症。
Am J Dis Child. 1983 May;137(5):452-4. doi: 10.1001/archpedi.1983.02140310034008.
2
[Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity].
J Genet Hum. 1969 May;17(1):137-78.
3
Congenital cutis laxa with retardation of growth and development.先天性皮肤松弛症伴生长发育迟缓。
J Med Genet. 1987 Sep;24(9):556-61. doi: 10.1136/jmg.24.9.556.
4
Geroderma osteodysplastica. A report of two affected families.骨发育异常性皮肤异色症。两个患病家族的报告。
Hum Genet. 1978 Feb 16;40(3):311-24. doi: 10.1007/BF00272192.
5
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.
Am J Med Genet. 1979;3(4):389-95. doi: 10.1002/ajmg.1320030410.
Zotero 插件