EPIDERMAL NEVUS AT A GLANCE

Epidermal nevi are hamartomatous proliferations of the epithelium, including

keratinocytes, sebocytes, pilosebaceous units, eccrine glands, or apocrine glands.
Six different epidermal nevus syndromes: epidermal nevi present with developmental
abnormalities of the nervous, cardiovascular, urogenital, or skeletal systems.
Linear configurations common on limbs following Blaschkos lines or in relaxed skin
tension lines. Tend to appear between birth and adolescence.
Epidermal nevus presenting with pruritus, erythema, scaling is likely a variant known
as inflammatory linear verrucous epidermal nevus.
Differential diagnosis: lichen striatus, linear Darier disease, linear porokeratosis,
linear lichen planus, linear psoriasis, and verrucous stage of incontinentia pigmenti.

Epidermal nevus is a generalized term for hamartomatous proliferations of

epithelium. The subtypes of this tumor differ according to the distribution of the lesions
or the predominant histologic cell type: keratinocyte (verrucous epidermal nevus),
sebaceous gland (nevus sebaceous), pilosebaceous unit (nevus comedonicus), eccrine
gland (eccrine nevus), or apocrine gland (apocrine nevus). Table 118-1.1 in online edition
provides a classification of one framework to discuss this large and diverse entity.
Currently, there are six different epidermal nevus syndromes described: (1) Proteus, (2)
congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, (3)
phakomatosis pigmentokeratotica, (4) sebaceous nevus, (5) Beckers nevus, and (6) nevus
comedonicus.

EPIDEMIOLOGY
Epidermal nevi occur in 1 in 1,000 live births. Eighty percent of lesions appear within
the first year of life, with the majority of lesions appearing by age 14 years. There are
rare reports of adult onset of epidermal nevi, with the oldest patient being a 60-year-old
woman. Such late-developing epidermal nevi probably represent lesions that have always
been present subclinically, but recent growth resulted in clinical recognition. There is an
equal male-female prevalence, and most cases are sporadic. However, some familial cases
have been documented.

VERRUCOUS EPIDERMAL NEVUS

Verrucous epidermal nevus is also known as linear verrucous epidermal nevus or
linear epidermal nevus.
CLINICAL FEATURES
Verrucous epidermal nevi are characterized by localized or diffuse, closely set, skincolored, brown, or gray-brown verrucous papules, which may coalesce to form welldemarcated papillomatous plaques (Fig. 118-8). Linear configurations are common on the
limbs as is distribution in Blaschkos lines or in relaxed skin tension lines (Fig. 118-9).

Extensive distribution of a verrucous epidermal nevus is termed systemized epidermal

nevus. Variants of this type of nevus include nevus unius lateris (Fig. 118-10), epidermal
nevi distributed on one-half of the body; and ichthyosis hystrix, epidermal nevi
distributed bilaterally. Commonly, systematized nevi take on a transverse configuration
on the trunk and linear configuration on the limbs.
An epidermal nevus presenting with pruritus, erythema, and scaling is likely a variant
of the epidermal nevus termed an inflammatory linear verrucous epidermal nevus
(ILVEN) (Fig. 118-11). These lesions are found most commonly on the buttocks and
lower extremities.

COURSE AND COMPLICATIONS

Linear epidermal nevi tend to appear between birth and adolescence. Although
congenital lesions tend not to expand significantly, lesions that present ater birth may
expand during childhood, stabilizing in size at or around puberty. Although intertriginous
lesions may become macerated and secondarily infected, the majority of epidermal nevi
remain quiescent after adolescence. Rare cases of basal cell carcinoma and squamous cell
carcinoma arising within epidermal nevi has been reported. This malignant transformation
is most common in middle-aged or elderly individuals, though the youngest reported case
occurred in a 17-year-old woman.
Epidermal nevi may present in conjunction with other epidermal lesions such as cafeau-lait macules, congenital hypopigmented macules, and congenital nevocellular nevi and
may be associated with abnormalities in other systems. (See Section Epidermal Nevus
Syndrome).
Rarely, patients with epidermal nevi have offspring with epidermolytic hyperkeratosis
(EHK), a condition resulting from a mutation in keratin 10 (K10). Paller et al
investigated three families with this occurrence. The analysis of skin samples of parents
and offspring with EHK demonstrated a parenteral mutation in one of the two K10 alleles
within the epidermal nevus; non-lesional skin showed no mutation. Offspring showed the
same K10 mutation as their parents. The presence of two genetically distinct cell lines in
the parents, also known as mosaicism, is a result of postzygotic mutation during
embryogenesis. If histopathologic evaluation of an epidermal nevus reveals findings
consistent with EHK, the patient is at risk of having a child with EHK. Prenatal
counseling, may be very important for there patients.

PATHOLOGY
There are ten histologic variants of the epidermal nevus, with over 60% of lesions
displaying acanthosis, papillomatosis, and hyperkeratosis (Fig. 118-12). Rare variants
may have features similar to SKs, with thin, elongated rete ridges; or EHK, with compact
orthokeratosis, vacuolozation of the granular layer of the epidermis, and large
keratohyalin granules within or outside cells. Epidermal hyperkeratosis may be a more
common finding in ichthyosis hystrix. ILVEN is a histologically distinct variant of the
epidermal nevus that displays a chronic dermal inflammatory infiltrate, psoriasiform

epidemal hyperplasia, and alternating bands of ortho- and parakeratosis. In this variant,
the granular layer is absent underlying the areas of parakeratosis.

DIFFERENTIAL DIAGNOSIS
(see Box 118-1). Lichen striatus, linear Darier disease, linear porokeratosis, linear
lichen planus, linear psoriasis, and the verrucous stage of incontinentia pigmenti may all
have similar clinical presentations as the linear verrucous epidermal nevus. Lichen
striatus may mimic ILVEN clinically, but is self-limited as compared with epidermal
nevi. Histology may be useful in differentiating these entities. Linear Darier disease and
linear porokeratosis can be differentiated patholoically with linear Darier disease having
the distinct pathologic findings of acantholytic dyskeratosis, and linear porokeratosis
having coronold lamellae. Although some consider linear lichen planus and linear
psoriasis to be variants of the ILVEN, the genetics and the immunology has yet to be fully
characterized. Incontinentia pigmenti can be distinguished clinically based on the
transient nature of this phase and the precending verrucous phase. Histologically, this
entity can be distinguished by its dyskeratosis, pigment incontinence, eosinophilic
axocytosis, and basal layer vacuolization.

BOX 118-1 DIFFERENTIAL DIAGNOSIS OF LINEAR EPIDERMAL NEVUS

Lichen striatus
Linear Darier disease
Linear porokeratosis
Linear lichen planus
Linear psoriasis
Incontinentia pigmenti

TREATMENT
Complete excision of an epidermal nevus to the level of the deep dermis is necessary
to prevent recurrences. However, based on the size and distribution of the lesion, excision
may not be an appropriate treatment are available to treat or destroy these lesions. Laser
ablation, electrofulguration, cryo-theray, and medium to full-depth chemical peels may
coffer partial or full destruction of lesions. Although topical retinoids and calcipotriene
offer little relief, these medications can be used as an adjunctive therapy to increase the
efficacy of the surgical intervention. Systemic retinoids and antipsoriatic agents may offer
some clinical improvement. There are reports of successful treatment of ILVEN with
etanercept. If malignant transformation is confirmed within an epidermal nevus, the
lesion should be completely excised.