Birthmarks of Potential Medical Significance

Abstract

After completing this article, readers should be able to: 1. Describe the clinical manifestations of neurofibromatosis type 1. 2. List conditions associated with cafe au lait macules. 3. Explain the clinical significance of congenital melanocytic nevi. 4. Characterize tuberous sclerosis complex. 5. List the two syndromes associated with port-wine stains and extracutaneous abnormalities. 6. Categorize and describe the three types of hemangiomas. Birthmarks are common (∼8% to 10%) in newborns. Most birthmarks represent vascular and pigmentary lesions. The natural history of these lesions varies from being transient phenomena and essentially normal variants of no clinical significance to permanent cutaneous abnormalities that may be associated with significant systemic complications or diseases. Table 1 lists some neonatal skin lesions that should be recognized by the clinician as clues to more serious disorders. | Hyperpigmented Birthmarks | || | | | Hypopigmented Birthmarks (“white spots”) | | Vascular Birthmarks | |     • Vascular Malformations | |         —Port-wine stains (PWS) | |         —Lymphatic malformations | |     • Vascular Tumors | |         —Hemangiomas | | Nevus Sebaceous | Table 1. Neonatal Skin Lesions That Are Clues to More Serious Disorders This review describes some of the most commonly encountered, clinically significant birthmarks, emphasizing those findings that should prompt early assessment, diagnosis, and appropriate treatment and counseling. Hyperpigmented lesions are common at birth and in the first few postnatal weeks. They may be macular, papular, plaquelike, evenly colored, or speckled. ### Cafe Au Lait Macules Cafe au lait macules (CALMs) are localized epidermal melanocytic flat lesions that usually are round or oval, evenly colored with light brown pigmentation, have distinct margins, and range in size from a few millimeters to 15 to 20 cm in diameter. They can occur anywhere on the body, most often on the buttocks in newborns (Fig 1). Most CALMs are present at birth or develop in the first few postnatal months. They are seen in 0.3% to 18% of neonates and usually are not associated with specific abnormalities, although they can be markers for some genetic diseases, such as neurofibromatosis type 1 (NF-1). Neonates who have multiple CALMs …