CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.
Caitlin N Harrington, Emily Kohl, Zainab Gilitwala et al.
✦ AI-curated · Sources linked
Case in brief
A patient with CBL syndrome due to a germline likely pathogenic CBL variant had ten café au lait macules and a recurrent granular cell tumor. The report identifies the tumor as an additional finding in the context of CBL syndrome and notes that it had not previously been described in this condition.
What made this case unusual
The combination of a recurrent granular cell tumor and ten café au lait macules broadens the reported phenotype of CBL syndrome; granular cell tumors had not been described in the condition.
Diagnostic / clinical pearl
In a patient with multiple café au lait macules, consider the broader phenotype and genetic testing implications of CBL syndrome, particularly when other unusual findings are present.
Why it matters
The case challenges the existing genetic testing approach for patients with more than six café au lait macules.