Epidermal Nevus Syndrome

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 medical literature.

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

Unknown.

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 Syndrome

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 include apneic, myoclonic, psychomotor, Jacksonian, and grand mal types of seizures. Cranial nerve disorders usually involve palsy of the sixth, seven, and eighth cranial nerve. Occasional cortical atrophy, hydrocephalus, cerebral hemangiomas or vascular malformations, hemimegalencephaly (typically ipsilateral to the skin lesions), agenesis of the corpus callosum and/or the cerebellar vermis, cysts continuous with the fourth ventricle of the brain, porencephaly, macrocephaly, hypotonia, hyperkinesia, hemiparesis or hemiplegia, cerebral calcifications, and cerebral tumors may be associated. Dandy-Walker Malformation (absence of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuing with the fourth ventricle) occurs in some cases. Neurogenic tumors may occur along the spinal cord. The skin shows epidermal nevi associated with nevus flammeus, sebaceous hypertrophy, hypopigmentation, café au lait spots, acanthosis nigricans, and mixed verrucous lesions. Blindness (retinal changes similar to those in Coats Disease have been reported) is not an uncommon finding, and additional ocular features may include colobomas of the eyelid, iris, and retina, subconjunctival lipodermoids, corneal clouding and vascularization, ptosis, ectopic displacement of the pupils, exotropia/esotropia tear duct stenosis, macrophthalmia/microphthalmia, and nystagmus.

The sebaceous epidermal nevus is associated with an increased risk of secondary tumors, both benign and malignant. Basal cell carcinoma is the most common cutaneous malignancy in these patients (up to 22% of patients). Generally, it does not occur until after puberty, although prepubertal manifestation has been reported. Squamous cell carcinoma has been described but is a rare complication of sebaceous nevus. Other tumors that have a higher incidence in these patients are hemangioma, keratoacanthoma, Wilms tumor, rhabdomyosarcoma, and various adenocarcinomas. Cardiovascular complications may include ventricular septal defect, coarctation of the aorta, pulmonary stenosis, dilated pulmonary artery, tetralogy of Fallot, patent ductus arteriosus, and hypoplastic left heart. Urogenital anomalies may include renal hypoplasia, hydronephrosis, hydroureter, ureteropelvic junction obstruction, vesicoureteral reflux, Wilms tumor, horseshoe kidney, cystic kidney, and cryptorchidism and hypospadia in males.

There does not appear to be any literature about anesthesia associated with this condition, but certain considerations are be made. The disease requires a complete workup, including neurologic and motor milestones, family history, and problems with previous anesthetics. Assess the airway for difficult management and check for enoral lesions. Exercise tolerance and full cardiac workup including echocardiography to quantify heart function are essential because various cardiac diseases are associated with the disease. A history of seizures and effectiveness of treatment should be obtained, and antiseizure medications should be continued until day of surgery. Respiratory function should be checked by chest radiographs and arterial blood gas analysis. Preoperative chest physiotherapy likely will be of benefit. A complete blood count and serum concentrations of electrolytes, creatinine, and urea should be obtained.

Patients may have raised intracranial pressure as a result of hydrocephalus. They may have a large head with prominent occiput and facial abnormalities that may make airway management difficult, as does the increased likelihood of bleeding from lesions of the oral mucosa. The threshold for invasive monitoring should be low in the presence of congenital cardiac lesions. Ventilation could be problematic because of kyphoscoliosis (decreased chest compliance) and other bony abnormalities and may be of particular significance if intracranial pressure is increased. Regular perioperative arterial blood gas analyses are recommended. The choice of anesthetic agents should take into account the patient's epileptic status.

Chronic treatment with antiseizure medications may interact with the metabolism and elimination of certain anesthetic drugs. Chronic administration of phenytoin increases requirements for nondepolarizing neuromuscular blocker, produces gingival hyperplasia and bleeding, and may cause hepatic dysfunction. Ketamine, enflurane, and methohexital are relatively contraindicated. Subacute bacterial endocarditis prophylaxis may be required.

Adams-Oliver Syndrome (AOS): Very rare inherited disorder characterized by defects of the scalp associated with multiple scarred and hairless areas that usually have dilated blood vessels directly under the skin. Scalp defects are present at birth. The extremities are either short (hypoplastic fingers and toes) or characterized by absent hands and lower legs. Congenital heart defect must be ruled out.

Aplasia Cutis Congenita: Most often inherited disorder with circumscribed or more extensive skin lesions that may also involve underlying tissues. Neurologic and cardiac anomalies have been described in these patients.

CHILD Syndrome: Inherited syndrome characterized by unilateral inflammatory nevus with strict midline demarcation, sparing the face, and ipsilateral defects involving all skeletal structures and internal organs.

Cutis Marmorata Telangiectatica Congenita: Congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Often reported in association with a variety of other congenital anomalies.

Delleman Oorthuys Syndrome: Multiple congenital anomaly syndrome mainly affecting the central nervous system, eyes, and skin.

Epidermolysis Bullosa: Group of inherited bullous disorders characterized by blister formation in response to mechanical trauma.

Johanson-Blizzard Syndrome (JBS): Polymalformative syndrome characterized by nasal alar hypoplasia (beak shaped), scalp defects, hypothyroidism, pancreatic achylia, and congenital deafness.

Goltz Syndrome: Complex mesoectodermal hereditary disorder characterized by focal dermal atrophy with herniation of fat producing multiple papillomas, in association with skeletal, dental, ocular, and other anomalies.

Proteus Syndrome: Rare congenital hamartomatous disorder characterized by multiple, diverse, somatic manifestations: partial bilateral gigantism of hands and feet, nevi, hemihypertrophy, subcutaneous tumors, and macrocephaly with cranial hyperostoses. It is named after the Greek god Proteus, “the polymorphous,” who could change his shape at will to avoid capture.

Setleis Syndrome: Puckered periorbital skin, absent or multiple rows of eyelashes.

Streeter Anomaly: Constricting amniotic bands leading to amputation with scarring, distal syndactyly, cleft lip/palate, anencephaly, encephalocele, hydrocephaly, omphalocele, and gastroschisis. Other internal anomalies involve the heart, lungs, diaphragm, kidneys, and gonads.