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Epidermolysis bullosa simplex in Infant/Neonate
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Epidermolysis bullosa simplex in Infant/Neonate

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Contributors: Yun Xue MD, Jo-David Fine MD, MPH, Susan Burgin MD
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Synopsis

Epidermolysis bullosa simplex : Fingers, Painful skin lesions, Palms and soles, Tense bullae, Toes, Tense vesicles
Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by blistering in response to minor trauma. It is divided into 3 major categories based on the depth of skin blistering: (1) EB simplex (intraepidermal skin separation), (2) junctional EB (skin separation within the lamina lucida), and (3) dystrophic EB (sublamina densa skin separation). A fourth major type that recently has been proposed encompasses Kindler syndrome, since that genodermatosis shares with the other 3 major EB types the presence of mechanically fragile skin and blisters that, in contrast to all other EB types, typically have cleavage planes within multiple levels of the basement membrane zone. Although, in general, individual EB subtypes vary in their overall clinical severity by mid-childhood or early adulthood, each may present with similar clinical features during the neonatal period. As such, accurate subclassification may not be possible until later in infancy or childhood, when characteristic phenotypic features become more apparent.

EB simplex is the most common form of EB. It is most often caused by mutations within the genes encoding for keratins-5 and -14, with the vast majority being autosomal dominantly transmitted. There are 2 major types of EB simplex, basilar and suprabasilar, based on the ultrastructural site within which blisters arise. Most subtypes are basilar. On the basis of collective clinical findings, in conjunction with ultrastructural and molecular data, basilar EB simplex is further divided into 3 main subtypes:
  1. EBS, localized (EBS-loc; formerly known as EB simplex Weber-Cockayne), the mildest EB simplex subtype, is associated with blisters primarily limited to the palms and soles.
  2. EBS, generalized severe (EBS-gen sev; formerly known as Dowling-Meara type) is a severe subtype characterized by widespread blistering, herpetiform or arcuate grouping of blisters, possible internal organ involvement (to rarely include the upper airway), and the potential for death in the neonatal period.
  3. EBS, generalized intermediate (EBS-gen intermed; formerly known as Koebner type), is an EB simplex subtype having more widespread cutaneous involvement than EBS-loc but little or no extracutaneous disease activity.
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is a rare subtype characterized by nonscarring blisters on distal extremities during infancy and slow development of reticular hyperpigmentation later in life. EB simplex may also be associated with muscular dystrophy (EBS-MD).

In the mildest cases of EB simplex, first signs may not develop until the child begins to walk or crawl, whereas large bullae and erosions are usually present at birth or within the first days of life in infants having a generalized EB simplex subtype. All forms of EB simplex worsen in hot, humid environments, and most improve with age. Treatment is supportive.

There are some patients with a dominant mutation that promotes ubiquitination and excessive proteolysis of KRT14.

Related topic: Epidermolysis bullosa acquisita

Codes

ICD10CM:
Q81.0 – Epidermolysis bullosa simplex

SNOMEDCT:
67144006 – Epidermolysis bullosa simplex

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

During the perinatal period, the differential diagnosis should include:
Unlike EB simplex, the bullae of SSSS tend to be flaccid and centrally located (face and trunk), erode quickly, and are associated with significant underlying erythema. Sucking blisters, aplasia cutis, and traumatic ulcerations are isolated and self-limited, unlike EB simplex, which may be generalized and chronic. As noted previously, other forms of inherited EB cannot reliably be distinguished from EB simplex during earliest childhood on clinical grounds alone.

On the basis of history and clinical findings, other conditions that may need to be considered in childhood include but are not limited to the following:

Best Tests

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Therapy

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References

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Last Reviewed:10/03/2018
Last Updated:01/16/2022
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Epidermolysis bullosa simplex in Infant/Neonate
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A medical illustration showing key findings of Epidermolysis bullosa simplex : Fingers, Painful skin lesions, Palms and soles, Tense bullae, Toes, Tense vesicles
Clinical image of Epidermolysis bullosa simplex - imageId=605236. Click to open in gallery. caption: 'Scaling and flaccid bullae on the palm.'
Scaling and flaccid bullae on the palm.

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