Epidermolysis bullosa simplex

Classification according to ICD-10
Q81.0	Epidermolysis bullosa simplex
ICD-10 online (WHO version 2019)

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex

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The epidermolysis bullosa simplex (EBS) belongs to the group of diseases of epidermolysis bullosa and refers to a number of hereditary diseases with the characteristics of a fragile skin and formation of bubbles, spontaneously or after minimal trauma . The damage is limited to the epidermis .

frequency

Frequency figures vary from 1 in 215,000 in the US to 1 in 35,000 in Scotland.

clinic

Inheritance is usually autosomal dominant . Exceptions are specified below.

Common features are:

• Onset of illness during or shortly after birth, but also in childhood or early adulthood
• Appearance of bubbles and erosions

Localization of the bubbles in the basal layer of the skin , in a few forms (indicated there) suprabasal.

In addition, nail detachment or nail dystrophy as well as keratoderma of the palms of the hands and soles of the feet can occur.

Classification

So far, numerous forms have been described, currently 3 to 4 main types are considered as a single disease due to their considerable clinical overlap with mutations in the same gene .

Main types

• EBS-WC , Localized Weber-Cockayne type, mildest and most common form, mainly hands and feet. Mutations in the KRT14 gene at locus 17q21.2 or in the MRT5 gene at locus 17q12-q21.
• EBS-DM , herpetiform type Dowling-Meara, generalized, most severe form, from birth, also affected oral mucosa. Improvement in old age. Changes in the nails, hyperkeratosis on the palms of the hands and soles of the feet. Mutations in the KRT5 gene at locus 17q12-q21 or in the KRT14 gene at locus 12q13.
• EBS-K , generalized type Koebner, (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) less severe than Dowling-Meara, mutations in the KRT14 gene at locus 17q21.2 or in the MRT5 gene at locus 17q12-q21

Rare sub-forms

• EBS-MD (epidermolysis bullosa simplex with muscular dystrophy; limb girdle muscular dystrophy - epidermolysis bullosa simplex), rare, only form without keratin mutation, muscular dystrophy in adulthood, mutations in the PLEC1 gene at gene location 8q24
• EBS Ogna form (Epidermolysis bullosa simplex Ogna), only in Norway, onset in childhood, in the summer months, mutations in the PLEC1 gene at locus 8q23
• AR-EBS (epidermolysis bullosa simplex, autosomal recessive), recessive inheritance, mutations in the KRT14 gene
• EBS-AR BP230 (Epidermolysis bullosa simplex due to BP230 deficiency), autosomal recessive, mutations in the DST gene at locus 6p12.1
• EBS-AR exophilin 5 (Epidermolysis bullosa simplex due to exophilin 5 deficiency), autosomal recessive, mutations in the EXPH5 gene at locus 11q22.3
• LAEB (lethal acantholytic epidermolysis bullosa), autosomal recessive, bladders suprabasal, mutations in the DSP gene at gene location 6p24.3, which codes for desmoplakin
• EBS-PD (epidermolysis bullosa simplex due to plakophilin deficiency; ectodermal dysplasia-skin fragility syndrome; McGrath syndrome), autosomal recessive, bladders suprabasal, mutations in the PKP1 gene at 1q32, which codes for plakophilin-1
• EBS-MP (Epidermolysis bullosa simplex blotchy hyperpigmentation, English mottled pigmentation ) with speckled pigmentation, dark spots on the trunk, arms and legs, decreasing in adulthood, with mild nail dystrophy and focal palmo-plantar keratoderma, mutations in the KRT5 gene at 12q13.13
• EBS-migr (Epidermolysis bullosa simplex with ring-shaped erythema migrans | English EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA ), from birth, belt-like erythema with numerous blisters in the marginal area, mutations in the KRT5 gene at locus 12q13.13
• EBSS (epidermolysis bullosa simplex superficialis), lesions suprabasal without blistering
• Epidermolysis bullosa simplex with anodontia / hypodontia (Gamborg-Nielsen syndrome; Kallin syndrome)
• EBS-PA , autosomal recessive, combination with pyloric atresia , mutations in the PLEC1 gene at 8q24

Diagnosis

The diagnosis is based on the determination of the epidermal layer, in which the blisters develop after gently pulling the skin, in a skin biopsy with the help of immunofluorimetric antigen mapping and transmission electron microscopy, the type of inheritance and the clinical picture.

Differential diagnostics

Only in the newborn period is there a need to distinguish between:

• Herpes simplex
• Congenital aplasia cutis
• Pemphigus acutus neonatorum
• Neonatal gestation herpes
• Lyell syndrome
• Incontinentia pigmenti
• Epidermolytic Ichthyosis
• Linear IgA dermatosis
• Bullous pemphigoid
• Impetigo contagiosa

therapy

Treatment consists in avoiding the formation of blisters by cushioning the skin, avoiding trauma.

See also

• Mutations in the KRT14 gene with changes in keratin 14 are also present in dermatopathia pigmentosa reticularis and Naegeli syndrome .
• Mutations in the KRT5 gene with changes in keratin 5 are also present in Dowling Degos disease type 1.

Individual evidence

1. ↑ ^{a b c d e} Epidermolysis bullosa simplex. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b c d e f} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
3. ↑ ^{a b} Genetics Home Reference
4. ^ Encyclopedia Dermatology Epidermolysis bullosa simplex
5. ↑ Epidermolysis bullosa simplex, localized. In: Orphanet (Rare Disease Database).
6. ^ Encyclopedia Dermatology Epidermolysis bullosa simplex Weber-Cockayne
7. ↑ Epidermolysis bullosa simplex Dowling-Meara
8. ↑ Epidermolysis bullosa simplex type Dowling-Meara. In: Orphanet (Rare Disease Database).
9. ↑ Epidermolysis bullosa herpetiformis.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ Generalized epidermolysis bullosa simplex.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ Epidermolysis bullosa simplex Koebner
12. ↑ epidermolysis bullosa simplex, non-Dowling-Meara type 11425. In: Orphanet (database for rare diseases).
13. ↑ Epidermolysis bullosa simplex with muscular dystrophy. In: Orphanet (Rare Disease Database).
14. ^ Epidermolysis bullosa simplex with muscular dystrophy.  In: Online Mendelian Inheritance in Man . (English)
15. ^ Ogna type epidermolysis bullosa simplex. In: Orphanet (Rare Disease Database).
16. ^ Epidermolysis bullosa simplex of Ogna.  In: Online Mendelian Inheritance in Man . (English)
17. ^ Epidermolysis bullosa simplex, recessive 1.  In: Online Mendelian Inheritance in Man . (English)
18. ↑ Epidermolysis bullosa simplex, autosomal recessive. In: Orphanet (Rare Disease Database).
19. ↑ Epidermolysis bullosa simplex due to BP230 deficiency. In: Orphanet (Rare Disease Database).
20. ^ Epidermolysis bullosa simplex, autosomal recessive 2.  In: Online Mendelian Inheritance in Man . (English)
21. ↑ Epidermolysis bullosa, nonspecific, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
22. ↑ Epidermolysis bullosa simplex due to exophilin 5 deficiency. In: Orphanet (Rare Disease Database).
23. ↑ Epidermolysis bullosa, acantholytic lethal. In: Orphanet (Rare Disease Database).
24. ↑ Epidermolysis bullosa, lethal acantholytic.  In: Online Mendelian Inheritance in Man . (English)
25. ↑ Epidermolysis bullosa simplex due to plakophilin deficiency. In: Orphanet (Rare Disease Database).
26. ↑ Ectodermal dysplasia / skin fragility syndrome.  In: Online Mendelian Inheritance in Man . (English)
27. ↑ Epidermolysis bullosa simplex-MP.  In: Online Mendelian Inheritance in Man . (English)
28. ↑ Epidermolysis bullosa simplex with speckled pigmentation. In: Orphanet (Rare Disease Database).
29. ↑ Encyclopedia Dermatology Epidermolysis bullosa simplex with patchy hyperpigmentation
30. ↑ Epidermolysis bullosa simplex with ring-shaped erythema migrans. In: Orphanet (Rare Disease Database).
31. ↑ Epidermylysis bullosa simplex-MCR.  In: Online Mendelian Inheritance in Man . (English)
32. ↑ Epidermolysis bullosa simplex superficialis. In: Orphanet (Rare Disease Database).
33. ↑ EBSS.  In: Online Mendelian Inheritance in Man . (English)
34. ↑ Epidermolysis bullosa simplex with anodontia / hypodontia. In: Orphanet (Rare Disease Database).
35. ↑ Epidermolysis bullosa simplex with pyloric atresia. In: Orphanet (Rare Disease Database).
36. ↑ Epidermolysis bullosa simplex with pyloric atresia.  In: Online Mendelian Inheritance in Man . (English)
37. ↑ KRT14
38. ↑ KRT5

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