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Generalized severe epidermolysis bullosa simplex in Child
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Generalized severe epidermolysis bullosa simplex in Child

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Contributors: Jo-David Fine MD, MPH, Lowell A. Goldsmith MD, MPH
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Synopsis

Generalized severe epidermolysis bullosa (EB) simplex (EBS-gen/sev; formerly known as Dowling-Meara EB simplex [EBS-DM] and simplex herpetiformis) is one of the more severe generalized forms of EB, inherited as an autosomal dominant trait. This major and most severe subtype of EB simplex results from a defect in the genes encoding either keratin-5 or -14. Generalized blistering occurs, oftentimes with blisters either grouped together ("herpetiform") or in an arc-like ("arcuate") or serpiginous array. Although herpetiform lesions may not be obvious during severe outbreaks, this feature, whenever seen in a patient with an inherited blistering disorder, is pathognomonic of EBS-gen/sev. The oral mucosa is commonly involved during early infancy or the neonatal period, making feeding somewhat difficult. Localized atrophic scarring, milia, and nail dystrophy are commonly seen, especially as the child ages, features of which at times erroneously suggest the diagnosis of dystrophic EB. Repeated blistering of the palms and soles eventually leads, usually by late childhood, to the development of confluent thickening of those surfaces ("keratoderma"), a rather characteristic feature of this particular subtype of inherited EB. As in all other types and subtypes of inherited EB, most patients with EBS-gen/sev experience worse blistering during warmer weather. Curiously, though, rarely EBS-gen/sev patients have temporary lessening in skin disease activity during periods of high fever. As with all other EB patients, lesions arise almost immediately following any (even seemingly insignificant) trauma or traction to the surface of the skin, because of its inherent mechanical fragility. Some patients with EBS-gen/sev may experience some lessening of their blister activity during mid-adulthood, and rarely some of these keratodermas may even partially regress.

Extracutaneous complications may accompany EBS-gen/sev, most notably oral cavity blistering. Some patients with EBS-gen/sev may develop some partial contractures of the arms and legs, and a few have been reported to develop progressive, potentially life-threatening occlusion of the upper airway as a result of repeated blistering at or above the level of the vocal cords, analogous to what occurs in infants and small children with junctional EB. Growth retardation and anemia are uncommon findings in children with EBS-gen/sev. Most patients with EBS-gen/sev live a normal lifespan, although a minority of the most severely affected dies during early infancy, presumably from overwhelming sepsis or failure to thrive.

For more information, see OMIM.

Related topics: Dystrophic epidermolysis bullosa, Kindler syndrome, Epidermolysis bullosa acquisita

Codes

ICD10CM:
Q81.0 – Epidermolysis bullosa simplex

SNOMEDCT:
254179000 – Dowling-Meara epidermolysis bullosa

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Differential Diagnosis & Pitfalls

For someone experienced in seeing patients with inherited EB, reasonably accurate subclassification of older children and adults is usually rather easy, based on history and clinical findings alone.

In the newborn period, however, it is oftentimes impossible to clinically distinguish among any of even the three major EB subtypes (ie, simplex, junctional, and dystrophic) in the absence of appropriate laboratory data. Of particular note, with the rarest exceptions, the use of three common cutaneous findings (scarring, milia, and nail dystrophy) as a means of distinguishing among the these three major EB types is dangerous, since the presence or absence of any of all of these three findings still yields insufficiently high sensitivity and specificity to allow for the reliable classification and subclassification of these patients. As such, specialized diagnostic laboratory testing is mandatory in all cases of EB unless confirmatory testing has already been successfully done on another affected member of the same kindred.

A large differential diagnosis for inherited EB can be generated in young children having vesicles or bullae on their skin. Some of the following may, however, be rather readily dismissed by the more experienced dermatologist on the basis of personal and family history and close inspection of the entire skin surface. This differential diagnosis may include but is not limited to:

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Last Updated: 08/31/2018
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Generalized severe epidermolysis bullosa simplex in Child
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Generalized severe epidermolysis bullosa simplex : Arcuate configuration, Grouped configuration, Tense bullae, Tense vesicle, Widespread, Atrophic scar
Clinical image of Generalized severe epidermolysis bullosa simplex
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