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Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

Abstract Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29381997
OWN - NLM
STAT- MEDLINE
DCOM- 20180209
LR  - 20180209
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 47
DP  - 2017 Nov
TI  - Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and 
      pulmonary capillary hemangiomatosis-like foci: A case report.
PG  - e8853
LID - 10.1097/MD.0000000000008853 [doi]
AB  - RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant
      inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain 
      of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft
      tissue manifestations including hyperextensibility of skin and joint
      hypermobility but also by early mortality due to rupture of arteries or vital
      organs. Although pulmonary complications are not common, vEDS cases complicated
      by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When 
      a patient initially presents only with pulmonary complications, it is not easy
      for clinicians to suspect vEDS. PATIENT CONCERNS: We report a case of an
      18-year-old high school student, with a past history of cryptorchidism,
      presenting with recurrent pneumothorax. DIAGNOSES: Routine laboratory findings
      were unremarkable. Chest high resolution computed tomographic scan showed
      age-unmatched hyperinflation of both lungs, atypical cystic changes and
      multifocal ground glass opacities scattered in both lower lobes. His slender body
      shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion 
      of a possible connective tissue disorder. INTERVENTIONS: The histological
      examination of the lung lesions showed excessive capillary proliferation in the
      pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary
      hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site
      mutation confirming his diagnosis as vEDS. OUTCOMES: Although his diagnosis vEDS 
      is notorious for fatal vascular complication, there was no evidence of such
      complication at presentation. Fortunately, he has been followed up for 10 months 
      without pulmonary or vascular complications. LESSONS: To the best of our
      knowledge, both cryptorchidism and PCH-like foci have never been reported yet as 
      complications of vEDS, suggesting our case might be a new variant of this
      condition. This case emphasizes the importance of comprehensive physical
      examination and history-taking, and the clinical suspicion of a possible
      connective tissue disorder when we encounter cases with atypical presentation
      and/or unique chest radiologic findings especially in young patients.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Park, Min A
AU  - Park MA
AD  - Division of Pulmonary and Critical Care Medicine, Department of Internal
      Medicine, Kyung Hee University School of Medicine.
FAU - Shin, So Youn
AU  - Shin SY
AD  - Department of Radiology, Kyung Hee University Hospital, College of Medicine,
      Kyung Hee University.
FAU - Kim, Young Jin
AU  - Kim YJ
AD  - Department of Laboratory Medicine, Kyung Hee University School of Medicine,
      Seoul, Republic of Korea.
FAU - Park, Myung Jae
AU  - Park MJ
AD  - Division of Pulmonary and Critical Care Medicine, Department of Internal
      Medicine, Kyung Hee University School of Medicine.
FAU - Lee, Seung Hyeun
AU  - Lee SH
AD  - Division of Pulmonary and Critical Care Medicine, Department of Internal
      Medicine, Kyung Hee University School of Medicine.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (COL3A1 protein, human)
RN  - 0 (Collagen Type III)
RN  - Hemangiomatosis, familial pulmonary capillary
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Collagen Type III/analysis
MH  - Cryptorchidism/*etiology
MH  - Ehlers-Danlos Syndrome/*complications/diagnosis/genetics
MH  - Hemangioma, Capillary/*etiology
MH  - Humans
MH  - Hypertension, Pulmonary/*etiology
MH  - Lung Neoplasms/*etiology
MH  - Male
MH  - Pneumothorax/*etiology
MH  - Recurrence
PMC - PMC5708996
EDAT- 2018/02/01 06:00
MHDA- 2018/02/10 06:00
CRDT- 2018/02/01 06:00
PHST- 2018/02/01 06:00 [entrez]
PHST- 2018/02/01 06:00 [pubmed]
PHST- 2018/02/10 06:00 [medline]
AID - 10.1097/MD.0000000000008853 [doi]
AID - 00005792-201711270-00088 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Nov;96(47):e8853. doi: 10.1097/MD.0000000000008853.