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

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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.

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Approximately 500 cases have been described in the medical literature.

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

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Unknown.

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Based on the clinical findings. The Epidermal Nevus Syndromes are a group of five different syndromes:

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  • 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 Syndrome

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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.

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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 ...

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