Epidermolysis bullosa simplex with extracutaneous involvement

MedGen UID:: 1842713
•Concept ID:: C5680281
•: Disease or Syndrome

Synonym:	EBS with extracutaneous involvement

Orphanet:	ORPHA595351

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpidermolysis bullosa simplex with extracutaneous involvement

Epidermolysis bullosa simplex with extracutaneous involvement

Recent clinical studies

Etiology

Nutritional outcomes in children with epidermolysis bullosa: long-term follow-up.

Zidório APC, Leão DOD, De Carvalho KMB, Dutra ES
Nutr Hosp 2018 Jan 19;35(2):265-270. doi: 10.20960/nh.1262. PMID: 29756957

Evaluation and treatment of the newborn with epidermolysis bullosa.

Gonzalez ME
Semin Perinatol 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. PMID: 23419761

Epidermolysis bullosa: case report of appropriate classification of subtype because of an early dental exam.

Bohaty B, Spencer P, Dunlap C, Wandera A
J Clin Pediatr Dent 1998 Spring;22(3):243-5. PMID: 9641100

Structural and compositional alteration of tooth enamel in hereditary epidermolysis bullosa.

Wright JT, Hall KI, Deaton TG, Fine JD
Connect Tissue Res 1996;34(4):271-9. doi: 10.3109/03008209609005271. PMID: 9084636

Epidermolysis bullosa: report of one case.

Yen SL, Chao LH, Ho MM, Hwang KC
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1990 Nov-Dec;31(6):383-7. PMID: 2284946

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Diagnosis

Evaluation and treatment of the newborn with epidermolysis bullosa.

Gonzalez ME
Semin Perinatol 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. PMID: 23419761

Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.

Krous HF, Chadwick AE, Haas EA, Breisch E, Masoumi H
Pediatr Dev Pathol 2007 Nov-Dec;10(6):481-6. doi: 10.2350/06-12-0201.1. PMID: 18001159

Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.

Patrizi A, Di Lernia V, Neri I, Badiali De Giorgi L, Masi M
Pediatr Dermatol 1994 Dec;11(4):342-5. doi: 10.1111/j.1525-1470.1994.tb00102.x. PMID: 7899187

Gastrointestinal manifestations of epidermolysis bullosa. A study of 101 patients.

Ergun GA, Lin AN, Dannenberg AJ, Carter DM
Medicine (Baltimore) 1992 May;71(3):121-7. doi: 10.1097/00005792-199205000-00002. PMID: 1635437

Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.

Fine JD, Stenn J, Johnson L, Wright T, Bock HG, Horiguchi Y
Arch Dermatol 1989 Jul;125(7):931-8. doi: 10.1001/archderm.125.7.931. PMID: 2662909

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Prognosis