Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

Author:

Herlin Laura Krogh12ORCID,Herlin Morten Krogh3ORCID,Vinter Hanne4,Blechingberg Jenny3ORCID,Andersen Brian Nauheimer5ORCID,Kruse Casper67ORCID,Sommerlund Mette12ORCID

Affiliation:

1. Department of Dermatology Aarhus University Hospital Aarhus Denmark

2. Department of Clinical Medicine Aarhus University Aarhus Denmark

3. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

4. Department of Pathology Aarhus University Hospital Aarhus Denmark

5. Center for Rare Diseases, Department of Pediatric and Adolescent Medicine Aarhus University Hospital Aarhus Denmark

6. Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery Aarhus University Hospital Aarhus Denmark

7. Department of Dentistry and Oral Health Aarhus University Aarhus Denmark

Abstract

ABSTRACTBackgroundFocal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN.MethodsWe characterized a case series of four genetically confirmed FDH patients (three females, one male) at Aarhus University Hospital, Denmark. We estimated the FDH prevalence from our local cohort and nationwide registry data.ResultsThree patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted PORCN analysis. One patient had an atypical presentation with several malformations but only subtle skin changes and was diagnosed following trio exome‐sequencing analysis. Skin atrophy with fat herniations and telangiectasias were typical cutaneous findings. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly. Eye abnormalities included coloboma and microphthalmos. Facial dysmorphology was defined by asymmetry, thin upper lip, and malformed ears. One patient developed a giant cell bone tumor, which is a rare feature of FDH. Dental findings included enamel hypoplasia with vertical grooving and irregular crowns. Four PORCN variants were identified, including three not previously reported in the literature.We estimated a regional point prevalence in Western Denmark of 1.6 cases per million population (95% confidence intervals (CI): 0.7–3.7 per million) and a nationwide registry‐based point prevalence of 1.2 cases per million population (95% CI: 0.6–2.4 per million).ConclusionsFDH is an extremely rare and complex multisystem disorder of variable presentation, which requires close multidisciplinary collaboration for diagnosis and patient care.

Funder

Aarhus Universitet

Lundbeck Foundation

Publisher

Wiley

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3