Dermatology

Nevus Sebaceus (Nevus Sebaceus of Jadassohn, nevus epitheliomatous capitis, organoid nevus)

Nevus sebaceus(Nevus sebaceous, Nevus Sebaceus of Jadassohn, nevus epitheliomatous capitis, organoid nevus), 702.8;216.9;238.2,757.8

Are You Confident of the Diagnosis?

What you should be alert for in the history

Characteristic findings on physical examination

Nevus sebaceus is an organoid hamartoma that manifests at birth or early childhood.{Figure 1, Figure 2} The lesion develops in three stages. It initially presents as a flesh-colored or pink to yellow-orange, smooth plaque found mostly on the face and scalp. Alopecia is frequently associated with scalp lesions. Maternal hormones briefly increase the prominence during infancy. During and after puberty, enlargement and proliferation of sebaceous and apocrine glands result in the nevus acquiring a verrucous or cobblestone appearance. Lesions can progress to the third state, which is characterized by associated benign and malignant neoplasms.

Figure 1.

Linear plaque on scalp and temple of infant

Figure 2.

Yellow-orange hairless plaque on scalp.

Who is at Risk for Developing this Disease?

In the United States, nevus sebaceus occurs in equal frequency in males and females of all races. Approximately 0.3% of newborns are affected. The most frequent lesion locations are the scalp (59.3%), face (32.6%), preauricular area (3.8%), neck (3.2%), and areas other than the head and neck (3.2%). There are rare reports of familial lesions.

What is the Cause of the Disease?

Etiology

Pathophysiology

The cause of this condition is unknown, but it is possibly linked to postzygotic somatic gene mutation involving PTCH gene. Maternal human papillomavirus (HPV) may be a risk factor.

Systemic Implications and Complications

Nevus sebaceus has a propensity to develop benign and malignant epidermal neoplasms. Malignant transformation within nevus sebaceus has been reported in childhood and adolescence. The incidence and lifetime risk of malignant transformation is unknown.

Basal cell carcinoma (BCC) is the most common associated malignant neoplasm; the most commonly associated benign neoplasm is trichoblastoma. Other benign and malignant neoplasms associated with nevus sebaceus include syringocystadenoma papilliferum, trichilemmoma, apocrine cystadenoma, keratoacanthoma, squamous cell carcinoma, and apocrine and sebaceous carcinomas. These neoplasms rarely occur during childhood. They can be locally invasive but rarely metastasize.

Recent studies indicate that previous misinterpretation of benign neoplasm (eg, trichoblastoma) as BCC may have resulted in overestimation of the potential for development of malignant neoplasms in nevus sebaceus. Development of nodules or ulceration within a nevus sebaceous should prompt a biopsy to evaluate for the potential development of a neoplasm. However, some studies report that malignant transformation can occur without clinical changes in lesion, so absence of clinical change is not an absolute reassurance against malignant transformation.

Nevus sebaceous syndrome (Schimmelpenning-Feuerstein-Mims syndrome, Jadassohn nevusphakomatosis) is a rare disorder incorporating sebaceous nevi, often extensive or linear, and other multisystem disorders. Extracutaneous manifestations can affect the central nervous, skeletal, ophthalmic, cardiac, and genitourinary systems. Vitamin-D resistant rickets has also been reported. When this syndrome is suspected, magnetic resonance imaging (MRI) and electrotroencephalography (EEG) studies should be obtained to evaluate for intracranial involvement. Appropriate consultation with neurology, ophthalmology, and orthopedics is recommended.

Treatment Options

The surgical option of choice is excision. Physical treatment with photodynamic therapy (PDT), CO2 laser, and dermabrasion has been reported, but these are not preferred treatment modalities. Treatment with these physical modalities generally results in incomplete removal of nevus sebaceus and thus the potential for development of neoplams in the residual lesion remains.

Optimal Therapeutic Approach for this Disease

The incidence of malignant transformation within the nevus sebaceus is uncertain, making the decision and timing of prophylactic surgical excision controversial. The decision to treat this condition varies from patient to patient. Factors that should be taken into consideration are the patient’s age, location and size of the lesion, and cosmetic significance. The risks of anesthesia must also be considered, as most children would require general anesthesia for excision. In cases where treatment is necessary, excision is the preferred option. Other treatment modalities including PDT, CO2 laser, and dermabrasion are associated with higher rates of recurrence.

Patient Management

Patients with this condition require close serial clinical observation. Any suspicious lesional changes (development of nodules or ulcerations) require biopsy. Controversy regarding the need for prophylactic excision is reviewed in the optimal therapeutic approach for this disease section. The patient and family members should be aware of the risks associated with excisional surgery including scar, bleeding, infection, recurrence and anesthesia-related complications.

Unusual Clinical Scenarios to Consider in Patient Management

The nevus sebaceous syndrome (Schimmelpenning-Feuerstein-Mims syndrome, Jadassohn nevus phakomatosis) is a rare disorder incorporating sebaceous nevi, often extensive or linear, and other multisystem disorders. Extracutaneous manifestations can affect the central nervous, skeletal, ophthalmic, cardiac, and genitourinary systems. Vitamin-D resistant rickett has also been reported. When this syndrome is suspected, MRI and EEG studies should be obtained to evaluate for intracranial involvement. Appropriate consultation with neurology, ophthalmology, and orthopedics is recommended.

What is the Evidence?

Chun, K, Vazquez, M, Sanchez, JL. "Nevus sebaceus: clinical outcome and considerations for prophylactic excision". Int J Dermatol . vol. 34. 1995. pp. 538-41.

(This study documents a retrospective review of 225 consecutive cases of nevus sebaceus at a single institution. Based on findings, these authors recommend against prophylactic excision. Excision should only be pursued when benign or malignant neoplasms are suspected.)

Cribier, B, Scrivener, Y, Grosshans, E. "Tumors arising in nevus sebaceus: A study of 596 cases". J Am Acad Dermatol. vol. 42. 2000. pp. 263-8.

(This study reviewed 596 cases of nevus sebaceus documenting a low risk of malignant transformation for all lesions and 0 cases of malignant neoplasm in children. Most tumors occurred in adults over age 40, suggesting prophylactic excision in children is of uncertain benefit.)

Domingo, J, Helwig, EB. "Malignant neoplasms associated with nevus sebaceus of Jadassohn". J Am Acad Dermatol . vol. 1. 1979. pp. 545-56.

(This study documents nine malignant neoplasms associated with nevus sebaceus. Tumors consisted of four apocrine carcinomas, three adnexal carcinomas, one squamous cell carcinoma, and one combination of squamous cell and adnexal carcinoma.)

Eisen, DB, Michael, DJ. "Sebaceous lesions and their associated syndromes: Part I". J Am Acad Dermatol. vol. 61. 2009. pp. 549-60.

This article discusses the clinical and pathological aspects of nevus sebaceus. Lesional relationships with muir torre syndrome are discussed.)

Rosen, H, Schmidt, B, Lam, HP, Meara, JG, Labow, BI. "Management of nevus sebaceous and the risk of basal cell carcinomas: An 18-year review". Pediatr Dermatol . vol. 26. 2009. pp. 676-81.

(This review consists of 18 years of nevus sebaceus patient cases. The authors concluded that malignant transformation can occur in childhood and adolescence and therefore recommends excision.)

Prendiville, JS, Eichenfeld, LF, Frieden, IJ, Esterly, NB. "Lumps, bumps and hamartomas". Neonatal dermatology. Elsevier. 2008. pp. 435-6.

(This is a textbook review of nevus sebaceus. This chapter comments on both clinical and pathologicissues.)

Santibanez-Gallerani, A, Marshall, D, Duarte, AM, Melnick, SJ, Thaller, S. "Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases, and literature review". J Craniofac Surg . vol. 14. 2003. pp. 658-60.

(This retrospective study included 757 cases of nevus sebaceus in children under 16 years of age. No cases of basal cell carcinoma were observed and the authors suggest prophylactic excision is not necessary.)
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