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Epidermal Nevus Syndrome Clinical Presentation

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
 
Updated: Jun 06, 2016
 

History

Epidermal nevi are patches, plaques, or nodules that may be bilateral or distributed on most of the body. Usually, no symptoms of the nevi are present, with the exception of inflammatory linear verrucous epidermal nevus.

Inflammatory linear verrucous epidermal nevus is a linear, persistent, pruritic plaque, usually first noted on a limb in early childhood. The clinical history may reflect symptoms associated with underlying anomalies. Inflammatory linear verrucous epidermal nevus, unlike the other types of epidermal nevi, demonstrates erythema and sometimes pruritus.

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Physical

Linear nevus comedonicus

Nevus comedonicus is evident clinically as confluent clusters of dilated follicular orifices plugged with keratin, giving the appearance of aggregated open comedones. These clusters are often arranged in a linear or zosteriform pattern, occasionally paralleling the lines of Voigt or the lines of Blaschko.

Although usually unilateral, bilateral occurrences have been noted. As with other epidermal nevi, the most common sites are the face, the trunk, and proximal extremities.

Nevus comedonicus may be associated with a number of other cutaneous and internal defects, such as skeletal anomalies (eg, scoliosis, fused vertebrae or hemivertebrae, spina bifida occulta, absent fifth finger), central nervous system defects (eg, seizures, changes noted on EEG, transverse myelitis), and ocular alterations (eg, cataracts).

Inflammatory linear verrucous epidermal nevus

Inflammatory linear verrucous epidermal nevus is a linear, persistent, pruritic plaque, usually first noted on a limb in early childhood. Inflammatory linear verrucous epidermal nevus is characterized by tiny, discrete, erythematous, slightly warty papules, which tend to coalesce in a linear formation.

Altman and Mehregan[3] delineated 6 characteristic features: early age at onset, predominance in females (with a female-to-male ratio of 4:1), frequent involvement of the left leg, pruritus, marked refractoriness to therapy, and a distinctive psoriasiform and inflammatory histologic appearance.

The lesions may be observed at birth, but most appear during infancy and childhood. In the study by Altman and Mehregan,[3] one half of patients were noted to have lesions by age 6 months with three quarters of the 25 patients developing lesions by age 5 years. Several patients were noted to develop lesions at an older age (eg, 1 patient developed a lesion at 49 y). The left side of the body, particularly on the left lower extremity, was more often involved.

Inflammatory linear verrucous epidermal nevus may occur with musculoskeletal abnormalities in a few children, prompting the classification of inflammatory linear verrucous epidermal nevus as part of epidermal nevus syndrome. One infant had inflammatory linear verrucous epidermal nevus with congenital dislocation of the ipsilateral hip and Fallot tetralogy of the heart. Another infant had congenital inflammatory linear verrucous epidermal nevus with congenital bony anomalies of the ipsilateral extremities. Nevus depigmentosus and inflammatory linear verrucous epidermal nevus may occur together, as may inflammatory linear verrucous epidermal nevus and melanodontia.

Linear sebaceous nevus (Jadassohn nevus phacomatosis)

In 84% of patients with linear sebaceous nevus, skin lesions are on the face, and in approximately 50%, lesions are on the scalp, the neck, and the forehead. In most patients, the lesions appear on 1 side of the body (nevus unius lateralis), as shown in the images below. Lesions on the scalp are devoid of hair.

Characteristic epidermal nevus in the axillary fos Characteristic epidermal nevus in the axillary fossa of a child with Jadassohn nevus phakomatosis.
An extensive plaque is observed over most of the l An extensive plaque is observed over most of the left scapula, neck area, and lumbosacral location.
Plaque is evident in the region of the left groin, Plaque is evident in the region of the left groin, and it has a unilateral distribution.

Seizures are reported in 75% of patients with linear sebaceous nevus, mostly appearing in the first 6 months of life. The morphology of the seizures varies from infantile spasms or focal motor seizures to generalized tonic or tonic-clonic seizures. In some children, seizures are drug resistant and may result in progressive mental retardation, which is noted in approximately 70% of patients with Jadassohn nevus phacomatosis. Such regression of mental capacity is not observed in older children or adolescents.

Approximately 50% of patients demonstrate different neurologic deficits, including cranial nerve paresis (cranial nerves VI and VII), hemiparesis, or cortical blindness.

Linear sebaceous nevus syndrome is composed of multiple, well-demarcated linear, hairless plaques with evidence of neurologic or skeletal alterations, such as epilepsy or mental retardation. Skin lesions in linear sebaceous nevus syndrome are less obvious in infancy, and they are a smooth yellow-orange plaque. The nevus distribution pattern in this Schimmelpenning syndrome usually follows the lines of Blaschko. With age, these lesions become more visible, darker, verrucous, and hyperkeratotic. The last stage of development occurs in late adolescence or early adult life.

The verrucous nature of the lesions is further emphasized with cutaneous benign or malignant neoplasms noted in as many as 20-30% of patients. Trichoblastomas and syringocystadenoma papilliferum are the most likely benign neoplasms, whereas basal cell carcinoma, squamous cell carcinoma, and keratoacanthoma are the most common in the malignant category.[16] Rarely, the squamous cell carcinoma may be of the spindle cell type.[17]  Trichoblastic carcinoma developing with a nevus sebaceus has been described along with seven secondary benign neoplasms.[18]

Note the images below:

Extensive unilateral linear epidermal nevi in a 14 Extensive unilateral linear epidermal nevi in a 14-year-old girl with Jadassohn nevus phakomatosis. The plaques are elevated; some have verrucous characteristics.
An 8-year-old girl with Jadassohn nevus syndrome. An 8-year-old girl with Jadassohn nevus syndrome. Note typical plaques in the midline and on the arm and the neck. The plaques are darker and more verrucous on the arm and the neck than on the midline.

Epidermal nevus syndrome has been described in association with a complex ocular choristoma.[19] Further experience may show whether this linkage is significant.

Linear epidermal nevus may be bilateral or distributed on most of the body. The lesions appear as asymptomatic patches or plaques, with the head and the neck, as well as the trunk, being the most common sites.

The lesions may have a somewhat verrucous appearance. They lack erythema, and they are not pruritic.

An epidermal nevus may be associated with oral involvement and cleft palate.[20]

Epidermal nevus syndrome has been described with a combination of widespread eccrine proliferation, multiple facial and oral poxlike lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. This complex phenotype fits the genetic mosaicism theory.[21]

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Causes

The basis of the cause may be the activation of an autosomal dominant lethal mutation that survives by mosaicism. These cells might survive only by being adjacent to normal ones[22] Inflammatory linear verrucous epidermal nevus has been described in a mother and daughter.

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Warsaw Medical University, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

References
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Characteristic epidermal nevus in the axillary fossa of a child with Jadassohn nevus phakomatosis.
An extensive plaque is observed over most of the left scapula, neck area, and lumbosacral location.
Plaque is evident in the region of the left groin, and it has a unilateral distribution.
Epidermal nevus syndrome, demonstrating extension of a plaque distally.
Extensive unilateral linear epidermal nevi in a 14-year-old girl with Jadassohn nevus phakomatosis. The plaques are elevated; some have verrucous characteristics.
An 8-year-old girl with Jadassohn nevus syndrome. Note typical plaques in the midline and on the arm and the neck. The plaques are darker and more verrucous on the arm and the neck than on the midline.
 
 
 
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