Random Dermatology MCQ - NAME syndrome

A 22-year-old man is evaluated for a history of recurrent fainting spells. He has had numerous dark skin spots since childhood. Echocardiogram reveals a left atrial myxoma. Dermatologic examination reveals multiple lentigines on the face and lips, several blue-black papules (blue nevi) on the trunk, and a few soft, flesh-colored papules on the face that are consistent with myxomas on biopsy. Given this constellation of findings, what is the most accurate modern classification of this condition?

A. NAME syndrome is a unique and separate entity with its own genetic locus.
B. NAME syndrome represents a distinct variant of Peutz-Jeghers syndrome with cardiac involvement.
C. The findings of NAME syndrome (Nevi, Atrial Myxoma, Myxoid neurofibromata, Ephelides) fall within the diagnostic spectrum of Carney complex.
D. This presentation is most consistent with LAMB syndrome, which is unrelated to NAME syndrome.
E. This is a sporadic occurrence of multiple coincidental conditions.

Correct Answer: C. The findings of NAME syndrome (Nevi, Atrial Myxoma, Myxoid neurofibromata, Ephelides) fall within the diagnostic spectrum of Carney complex.

Answer and Explanation

The correct answer is C. This question describes a patient presenting with features historically labeled as NAME syndrome (Nevi, Atrial Myxoma, Myxoid neurofibromata, Ephelides). The key is understanding that in contemporary dermatology and genetics, NAME syndrome, along with LAMB syndrome, is not considered a separate disorder. Instead, these acronyms describe phenotypic variations of Carney complex, a single, autosomal dominant genodermatosis caused primarily by mutations in the PRKAR1A gene. The diagnostic criteria for Carney complex encompass all these features.

Why the Other Options are Incorrect:

• A. NAME syndrome is a unique and separate entity...: This is incorrect based on current understanding. While the acronym is useful for remembering features, it does not denote a genetically distinct disease.

• B. NAME syndrome represents a distinct variant of Peutz-Jeghers syndrome...: This is incorrect. Peutz-Jeghers syndrome is caused by STK11 mutations and is characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, but not cardiac myxomas or cutaneous myxoid lesions.

• D. This is most consistent with LAMB syndrome, which is unrelated...: This is incorrect. Both LAMB (Lentigines, Atrial Myxoma, Blue nevi) and NAME are historical terms for overlapping presentations of the same disease—Carney complex. They are related, not unrelated.

• E. This is a sporadic occurrence...: The combination of cardiac myxoma with specific, multiple pigmented lesions and cutaneous myxomas is highly specific for a genetic syndrome and is not coincidental.

Additional High-Yield Information for Exams:

• Historical vs. Modern Classification: It is important to know the acronyms NAME and LAMB, but crucial to state they are part of Carney complex. Exam questions often test this integration.

• Components of NAME:

  • Nevi: Refers broadly to pigmented lesions, including lentigines, blue nevi, and café-au-lait macules.

  • Atrial Myxoma: The most life-threatening component, can be recurrent and multicentric.

  • Myxoid Neurofibromata: These are actually cutaneous myxomas (superficial angiomyxomas), not true neurofibromas. They appear as soft, skin-colored papules or nodules, often on the eyelids, ears, and nipples.

  • Ephelides: This is synonymous with lentigines in this context, referring to the small, dark macules.

• Diagnostic Criteria for Carney Complex: The presence of two or more major criteria (e.g., spotty skin pigmentation, cardiac myxoma, cutaneous myxoma, PPNAD) establishes the diagnosis. The findings in this question meet multiple criteria.

• Genetics: As with LAMB syndrome, the genetic basis is a mutation in the PRKAR1A gene in the majority of familial cases.

• Prognosis and Management: Identical to Carney complex. The prognosis hinges on early detection and management of cardiac myxomas to prevent stroke or sudden death. Management mandates:

  • Annual echocardiography.

  • Surveillance for endocrine tumors (Cushing's syndrome from PPNAD, acromegaly).

  • Genetic counseling for the patient and family.

  • Surgical excision of cardiac myxomas and symptomatic cutaneous lesions.