Genetically transmitted group of neurocutaneous
disorders characterized by epidermal nevi, odontodysplasia, mental
retardation, and various other malformations (including skeleton, heart,
kidneys, and eyes).
Jadassohn Nevus Phakomatosis; Solomon Syndrome;
(Inflammatory) Linear Nevus Sebaceous Syndrome; Nevus Sebaceous of
Jadassohn. The terms Porcupine Man, Ichthyosis Hystrix Gravior, and Lambert
type Ichthyosis are considered by some authors as synonyms.
Approximately 500 cases have been described in the
Most cases appear to be sporadic, but a few
seem to be familial with autosomal dominant transmission.
Based on the clinical findings. The Epidermal Nevus
Syndromes are a group of five different syndromes:
- 1) Schimmelpenning
Syndrome (sebaceous nevus associated with cerebral anomalies, coloboma, and
lipodermoid of the conjunctiva)
- 2) Nevus Comedonicus Syndrome (with
cataracts as a distinguishing feature)
- 3) Pigmented Hairy Epidermal
Nevus Syndrome (with Becker Nevus and skeletal defects [e.g., scoliosis], and
ipsilateral breast hypoplasia)
- 4) CHILD Syndrome (congenital hemidysplasia with
ichthyosiform erythroderma and limb defects)
- 5) Proteus
The latter two syndromes are described separately; the first three
are described together. The majority of epidermal nevi either are present at
birth or occur within the first year of life (later onset is possible but
unusual). Typically, the distribution of nevi follows the lines of Blaschko.
Verrucous plaques of the scalp usually extend to the cheeks and other facial
structures. The distribution, surface characteristics, and histology of the
lesions are variable. Smaller lesions tend to be limited to the face, scalp,
and neck, whereas larger lesions may affect any part of the body. In
newborns, the nevi appear in a linear distribution as ovoid, flat, velvety
plaques. During adolescence, the lesions often become more raised,
verrucous, and hyperpigmented. Orbital hypoplasia, frontal bossing,
asymmetry of the skull, facial hemihypertrophy, and premature closing of the
sphenofrontal suture are the principal craniofacial defects. Hypoplasia of
the teeth and odontodysplasia (“ghost teeth”) are the main dental
disorders. Facial nevi may extend to the oral mucosa and cause friable,
papillomatous, bleeding masses. Cleft or highly arched palate and bifid
uvula occur in some cases. Rib defects and abnormal clavicles, kyphosis,
scoliosis, lordosis, and vertebral anomalies, short limbs, hemihypertrophy
(or localized gigantism), spontaneous fractures, hypoplasia of the talar
bone, genua valga, luxation of the ankle, pes equinovarus, and
camptodactyly, clinodactyly, and brachydactyly are all features that have
been described. Vitamin D-resistant rickets and cystic changes in the long
bones and mandible have been described.
Epidermal nevi of the face and neck seem to be
associated with a higher rate of cerebral anomalies when compared to
epidermal nevi limited to the trunk. Seizures (that may be difficult to
treat) and mental retardation (mild to very severe) complicate the
neurologic abnormalities and occur in approximately two thirds of patients.
Seizures typically start by the end of the first year of life and may ...