• Victoria Ruiz, Lucas Bujan, Pablo G Kalfayan, Alberto Seehaus, Indalecio Carboni Bisso, and Marcos Las Heras.
• Unidad de Cuidados Intensivos, Hospital Italiano de Buenos Aires, Argentina. E-mail: victoriaa.ruiz@hospitalitaliano.org.ar.
• Medicina (B Aires). 2023 Jan 1; 83 (2): 311314311-314.

AbstractBirt-Hogg-Dubé syndrome is a genodermatosis of autosomal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemoptysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evidence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofolliculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mutation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counseling was requested for relatives.

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