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Bockenheimer syndrome

MedGen UID:
1843091
Concept ID:
C5679814
Disease or Syndrome
Synonyms: Genuine diffuse phlebectasia; genuine diffuse phlebectasia
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016311
Orphanet: ORPHA217008

Definition

A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bockenheimer syndrome

Recent clinical studies

Etiology

Costard-Jäckle A, Tschöpe D, Meinertz T
Herz 2019 Sep;44(6):522-525. Epub 2018 May 2 doi: 10.1007/s00059-018-4704-4. PMID: 29721589
Osawa R, Kato N, Yanagi T, Yamane N
Clin Exp Dermatol 2007 Nov;32(6):664-7. doi: 10.1111/j.1365-2230.2007.02466.x. PMID: 17953636

Diagnosis

Costard-Jäckle A, Tschöpe D, Meinertz T
Herz 2019 Sep;44(6):522-525. Epub 2018 May 2 doi: 10.1007/s00059-018-4704-4. PMID: 29721589
Inaraja Pérez GC, Romero VR, Alcalde MC, Luque MÁ
Vasc Med 2012 Apr;17(2):125-7. Epub 2012 Jan 16 doi: 10.1177/1358863X11429375. PMID: 22250045
Osawa R, Kato N, Yanagi T, Yamane N
Clin Exp Dermatol 2007 Nov;32(6):664-7. doi: 10.1111/j.1365-2230.2007.02466.x. PMID: 17953636
van Geest AJ, Veraart JC, de Haan M, Neumann HA
J Eur Acad Dermatol Venereol 1999 Mar;12(2):165-8. PMID: 10343948

Prognosis

Costard-Jäckle A, Tschöpe D, Meinertz T
Herz 2019 Sep;44(6):522-525. Epub 2018 May 2 doi: 10.1007/s00059-018-4704-4. PMID: 29721589
Osawa R, Kato N, Yanagi T, Yamane N
Clin Exp Dermatol 2007 Nov;32(6):664-7. doi: 10.1111/j.1365-2230.2007.02466.x. PMID: 17953636

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