Ptosis and Ophthalmoplegia Associated With Epidermolysis Bullosa Simplex-Muscular Dystrophy

被引：3
|
作者：
Auringer, David E. [1 ]
Simon, John W. [1 ]
Meyer, Dale R. [1 ]
Malone, Anthony [2 ]
机构：
[1] Albany Med Coll, Lions Eye Inst, Dept Ophthalmol, Albany, NY 12208 USA
[2] Albany Med Coll, Dept Pediat, Albany, NY 12208 USA
来源：
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY | 2010年 / 26卷 / 06期
关键词：
D O I：
10.1097/IOP.0b013e3181e2f984
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
The association of epidermolysis bullosa simplex and muscular dystrophy (EBS-MD) has rarely been discussed in ophthalmology literature. This case report offers a brief summary of epidermolysis bullosa and describes what is known about EBS-MD. The case involves a patient with EBS-MD who presented with ptosis and ophthalmoplegia, suggesting that these may be complications of EBS-MD.
引用
收藏
页码：488 / 489
页数：2
相关论文
共 50 条
  • [1] Epidermolysis Bullosa Simplex with Muscular Dystrophy
    Chiaverini, C.
    Charlesworth, A.
    Meneguzzi, G.
    Lacour, J. P.
    Ortonne, J. P.
    DERMATOLOGIC CLINICS, 2010, 28 (02) : 245 - +
  • [2] EPIDERMOLYSIS BULLOSA SIMPLEX ASSOCIATED WITH MUSCULAR-DYSTROPHY WITH RECESSIVE INHERITANCE
    NIEMI, KM
    SOMMER, H
    KERO, M
    KANERVA, L
    HALTIA, M
    ARCHIVES OF DERMATOLOGY, 1988, 124 (04) : 551 - 554
  • [3] EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY ASSOCIATED WITH PLEC DELETION MUTATION
    Alvarez, Valeria Carolina
    Penttila, Sini Tellervo
    Salutto, Valeria Lujan
    Udd, Bjarne
    Mazia, Claudio Gabriel
    NEUROLOGY-GENETICS, 2016, 2 (06)
  • [4] CONGENITAL MUSCULAR-DYSTROPHY AND EPIDERMOLYSIS BULLOSA SIMPLEX
    KLETTER, G
    EVANS, OB
    LEE, JA
    MELVIN, B
    YATES, AB
    BOCK, HGO
    JOURNAL OF PEDIATRICS, 1989, 114 (01): : 104 - 107
  • [5] Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
    McMillan, J. R.
    Akiyama, M.
    Rouan, F.
    Mellerio, J. E.
    Lane, E. B.
    Leigh, I. M.
    Owaribe, K.
    Wiche, G.
    Fujii, N.
    Uitto, J.
    Eady, R. A. J.
    Shimizu, H.
    MUSCLE & NERVE, 2007, 35 (01) : 24 - 35
  • [6] PLEC1-related epidermolysis bullosa simplex-muscular dystrophy (EBS-MD) with early onset and associated myasthenic symptoms
    Forrest, K.
    Melerio, J.
    Robb, S.
    Goyal, S.
    Jungbluth, H.
    Wraige, E.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 621 - 621
  • [7] EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH MUSCULAR-DYSTROPHY - A NEW CASE
    PATRIZI, A
    DILERNIA, V
    NERI, I
    DEGIORGI, LB
    MASI, M
    PEDIATRIC DERMATOLOGY, 1994, 11 (04) : 342 - 345
  • [8] EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH MUSCULAR-DYSTROPHY WITH RECESSIVE INHERITANCE
    NIEMI, KM
    SOMER, H
    KERO, M
    KANERVA, L
    HALTIA, M
    JOURNAL OF CUTANEOUS PATHOLOGY, 1988, 15 (05) : 332 - 332
  • [9] Plectinopathy Resulting In Epidermolysis Bullosa Simplex With Muscular Dystrophy And Pyloric Stenosis
    Lowder, Lindsey
    Vega, Jose Velazquez
    Mendoza, Pia
    Neill, Stewart
    Schniederjan, Matthew
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2018, 77 (06): : 504 - 504
  • [10] Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
    Winter, Lilli
    Tuerk, Matthias
    Harter, Patrick N.
    Mittelbronn, Michel
    Kornblum, Cornelia
    Norwood, Fiona
    Jungbluth, Heinz
    Thiel, Christian T.
    Schloetzer-Schrehardt, Ursula
    Schroeder, Rolf
    ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2016, 4
12345