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At a glance

Genetically transmitted group of neurocutaneous disorders characterized by epidermal nevi, odontodysplasia, mental retardation, and various other malformations (including skeleton, brain, heart, kidneys, and eyes).

Synonyms

Jadassohn Nevus Phakomatosis; Solomon Syndrome; Linear Nevus Sebaceous Syndrome; Nevus Sebaceous of Jadassohn.

N.B.: The terms Porcupine Man, Ichthyosis Hystrix Gravior, and Lambert type Ichthyosis are considered by some authors as synonyms.

Subdivisions

Epidermal Nevus Syndromes encompass a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the extent extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well. Epidermal Nevus Syndrome represents a large group of medical conditions that include: Nevus Sebaceus Syndrome; Angora Hair Nevus Syndrome; Keratinocytic Epidermal Nevus Syndrome; Nevus Comedonicus Syndrome; Cowden Segmental Disease Type 2; Congenital Hemidysplasia Ichthyosiform Nevus Limb Defects Syndrome; Phakomatosis Pigmentokeratotica Syndrome; Proteus Syndrome; Schimmelpenning Syndrome; Becker’s Nevus Syndrome; CHILD Syndrome; Garcia-Hafner-Happle Syndrome; Porokeratotic Adnexal Ostial Nevus Syndrome; Inflammatory Linear Verrucous Epidermal Nevi Syndrome; and Cutaneous-Skeletal Hypophosphatemia Syndrome. See “Other conditions to be considered” for further information.

Incidence

It is estimated at 1 to 3 per 1,000 live births in the general population. The association between epidermal nevi and extra-cutaneous malformations is less frequent but for which the prevalence is most probably unknown due to the large number of medical conditions presenting with ENS.

Genetic inheritance

Most cases appear to be sporadic, but a few seem to be familial with autosomal dominant transmission.

Pathophysiology

Unknown.

Diagnosis

Based on the clinical findings. The five most established forms of Epidermal Nevus Syndromes include:

  • Schimmelpenning Syndrome (sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva): Characterized by multiple sebaceous nevi. Affected individuals also present with brain, eyes, and bones (scoliosis) abnormalities. Ocular abnormalities include coloboma, cloudy cornea, strabismus, and defects of the optic nerve and frequent detachment of the retina. It is the most common type of ENS. The onset of the disease is at birth (congenital lesions) but can also be identified late childhood around puberty. The scalp and mid-facial area are most often affected. The lesions, also seen on the arms, legs and trunk are usually salmon or yellowed colored, hairless, and smooth skin patches. After puberty, the skin lesions become more pronounced, scaly, warty, and elevated. Lesions on the scalp are usually hairless.

  • Nevus Comedonicus Syndrome: Characterized by skin lesion composed of closely-set, widened follicular openings that, in principle, belong to a hair follicle but in nevus comedonicus are plugged with keratin, a major structural protein found in the outer layer of skin as well as hair and nails. These lesions are often found on the head, ...

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