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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Epidermal bullosa simplex

Introduction

Overview

Overview

Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598

Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.

Classification

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Type Locus & Gene OMIM
Epidermolysis bullosa simplex with migratory circinate erythema 12q13 (KRT5) 609352
Epidermolysis bullosa simplex with mottled pigmentation.
Associated with a recurrent mutation in KRT14.[2]:557[3][4]
 12q13 (KRT5) 131960
Epidermolysis bullosa simplex, autosomal recessive 17q12-q21 (KRT14) 601001
Generalized epidermolysis bullosa simplex
Also known as “Koebner variant of generalized epidermolysis bullosa simplex”, presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[5]:598[2]:556
 17q12-q21 (KRT5), 12q13 (KRT14) 131900
Localized epidermolysis bullosa simplex
Also known as “Weber–Cockayne syndrome,”[4]:460 and “Weber–Cockayne variant of generalized epidermolysis bullosa simplex”, is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[5]:598[2]:557
 17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) 131800
Epidermolysis bullosa herpetiformis
Also known as “Dowling-Meara epidermolysis bullosa simplex”, presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[5]:598[2]:557
 17q12-q21 (KRT5), 12q13 (KRT14) 131760
Epidermolysis bullosa simplex with muscular dystrophy
A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[5]:598[2]:557[4]
 8q24 (PLEC1) 226670
Epidermolysis bullosa simplex with pyloric atresia 8q24 (PLEC1) 612138
Epidermolysis bullosa simplex of Ogna
Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[5]:598[2]:557[4]
 8q24 (PLEC1) 131950
Diagnosis

Diagnosis

Physical Examination

skin

Extremities
See also

See also

References

References

  1. ↑ Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ↑ Harel, A, et al. “Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14.” Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006. [1]
  4. ↑ 4.0 4.1 4.2 4.3 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 “Dermatology Atlas”.
External links

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Kiran Singh, M.D. [3]