Pediatric emergency medicine trisk 324

Type

Typical
inheritance

Epidermolysis
Autosomal
bullosa simplex
dominant
(EBS)
Autosomal
recessive

Junctional
epidermolysis
bullosa (JEB)

Autosomal
recessive

Dystrophic
epidermolysis
bullosa—
Dominant
(DDEB)

Autosomal
dominant

Dystrophic
epidermolysis

bullosa—
Recessive
(RDEB)

Autosomal
recessive

Clinical features

Electron
microscope

Bullae present at Cleavage through
birth, early
the basal cell
infancy, or later
layer or
in life; in areas
suprabasal layer
of trauma; may
above basement
improve in
membrane
adolescence;
rare mucous
membrane
involvement;
nail
involvement
Usually at birth;

Cleavage at
spontaneous
junction of
bullae and large
dermis and
areas of erosion
epidermis
(above
basement
membrane)
Early infancy and Dermal–epidermal
later; little or no
separation
involvement of
beneath
hair and teeth;
basement
mucous
membrane
membrane
lesions and nail
dystrophy
Present at birth;
Dermal–epidermal
widespread
separation
scarring and
beneath
deformity with
basement

mitten
membrane
deformity of
hands; severe
involvement of


Kindler syndrome Autosomal
recessive

mucous
membranes and
nails
Acral blistering;
Cleavage at
mottled
multiple levels
pigmentation;
photosensitivity:
skin atrophy;
involvement of
mucous
membranes


FIGURE 67.5 Linear arrangement of lesions (blisters in some cases) in an infant with
incontinentia pigmenti.

Incontinentia Pigmenti
Incontinentia pigmenti, a rare condition, occurs almost exclusively in females as

it is inherited in an X-linked dominant fashion. Inflammatory vesicles and bullae
erupt in crops in a linear or curvilinear distribution (especially on the extremities)
for the first several weeks to months of life ( Fig. 67.5 ). These affected areas
then progress to a warty stage. Finally, swirl-like pigmentation occurs but not
necessarily in the areas previously involved with warty or blistering lesions.
During the vesiculobullous stage, peripheral eosinophilia occurs (18% to 50%
eosinophils). These patients often have extracutaneous manifestations, including
dental anomalies, neurologic issues, ophthalmologic disease, and developmental


delay. Therefore, care must be coordinated with several subspecialists, and
genetics referral is highly recommended to assist with family planning.

AUTOIMMUNE BULLOUS DISORDERS
Linear IgA Disease
Chronic bullous disease of childhood (CBDC), also known as linear
immunoglobulin A (IgA) disease, may be seen in prepubertal children and is the
most common acquired autoimmune blistering condition seen in childhood. It
usually has an acute onset with characteristic vesicles and bulla in an annular
distribution often referred to as a “crown of jewels” or “string of pearls” ( Fig.
67.6 ). Characteristic areas of involvement include the trunk, extremities, genital
region, and face. The mucosa may be involved. Due to the acute onset and tense
bulla, it may be initially misdiagnosed as bullous impetigo, but the recurrent
nature and sterile bulla should suggest otherwise. Patients will often complain of
pruritus. The lesions do not scar but may leave behind persistent
hyperpigmentation at prior sites of blistering. The differential diagnosis includes
bullous pemphigoid, dermatitis herpetiformis (DH), epidermolysis bullosa
acquisita, and erythema multiforme.

FIGURE 67.6 Chest of a patient with chronic bullous dermatosis of childhood. Notice the

resemblance to erythema multiforme.

The diagnosis is confirmed by biopsy of a vesicle demonstrating a
subepidermal blister with neutrophils along with direct immunofluorescence
(DIF) of perilesional skin highlighting linear IgA staining at the basement