Blue Nevi Differential Diagnoses

Updated: Sep 18, 2020
  • Author: Rudolf R Roth, MD; Chief Editor: William D James, MD  more...
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Diagnostic Considerations

Also consider the following:

  • Combined nevus (a nevus that contains 2 or more separate types of nevi, such as a blue nevus in combination with a compound nevus or a spindle cell nevus) [11]
  • Congenital nevus
  • Foreign body
  • Deep penetrating nevus
  • Desmoplastic melanoma [12]
  • Carney syndrome (complex) [13, 14, 15, 16] : Carney syndrome (complex) is the rare association of blue nevi with other cutaneous and systemic findings. This condition is thought to arise in an autosomal dominant fashion. Synonyms include lentigines, atrial myxomas, mucocutaneous myxomas, and blue nevi (LAMB) and nevi, atrial myxomas, myxoid tumors (neurofibromas), and ephelides (NAME). Few-to-many blue nevi, ephelides, and mucocutaneous lentigines are found in approximately half the patients. Most often, they are noted on the head and the neck. Lesions may also be noted on the extremities and the genitalia. Lesions arise after birth and develop throughout life. Skin lesions usually precede the detection of cardiac myxomas. Patients with 2 or more clinical findings should undergo a complete evaluation for other associated findings. First-degree relatives of these patients should also undergo an evaluation. Additional associations reported with Carney syndrome (complex) include myxoid fibroadenoma of the breast, growth hormone producing pituitary adenoma causing acromegaly, pheochromocytoma, Sertoli cell tumor of the testes, myxoid uterine leiomyomas, acoustic neuroma, blue nevi, and psammomatous melanotic schwannoma. Mutations in the PRKAR1A gene (a tumor suppressor gene that encodes protein kinase A ) cause most cases of Carney complex. [17]
  • Familial multiple blue nevi [18] : From birth, multiple lesions are present on the head and the neck, the trunk, the extremities, and the sclera. This condition is not associated with other cutaneous or systemic findings. This condition is thought to arise in an autosomal dominant fashion.

Differential Diagnoses