SHM Converge Scientific Abstract ePoster Gallery-From Rash to Revelation: A Unique Case of Leprosy in a Previously Healthy 38-Year-Old Woman

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This case describes a previously healthy 38-year-old woman who developed fever, diffuse rash, and numb patches on her legs after a year-long history of recurrent skin lesions. Initial biopsy suggested nontuberculous mycobacterial infection, and she improved temporarily with clarithromycin, steroids, then later received moxifloxacin and rifampin without benefit. Her lesions worsened, became tender and indurated, and she developed daily fevers, hypoesthesia, and left-sided madarosis, raising concern for leprosy.<br /><br />Workup showed bilateral axillary and inguinal lymphadenopathy, mild splenomegaly, and a significant immunologic abnormality with CD3/CD4/CD8/B-cell lymphopenia, low IgG, and poor lymphocyte proliferation to Candida and tetanus. Whole-genome sequencing identified a previously undescribed heterozygous GATA2 variant, suggesting an underlying immunodeficiency that may have increased susceptibility to mycobacterial disease.<br /><br />A repeat skin biopsy showed atypical mycobacteria, and PCR confirmed Mycobacterium leprae, establishing the diagnosis of Hansen’s disease. She was treated with minocycline, rifampin, and moxifloxacin, along with prednisone and methotrexate to control inflammation. Her skin lesions, fevers, and neuropathy improved with therapy.<br /><br />The report emphasizes that leprosy remains diagnostically challenging in non-endemic areas because of its rarity, variable presentation, and the unreliability of traditional culture methods. PCR detection of M. leprae DNA is highlighted as the key diagnostic tool. The case also underscores the importance of considering underlying immune defects, such as GATA2-related immunosuppression, in patients with unusual or recurrent mycobacterial infections.

Asset Subtitle

Eli Aminpour

Meta Tag

Author List Eli Aminpour, Patricia E. Litkowski, Zachary A. Morgan

Category Clinical Vignettes

Concept Limited English Proficiency

Concept Mycobacterium leprae

Concept Sensory Loss

Concept Peripheral Neuropathy

Concept Immunodeficiency

Distinguished Non-Finalist

Presenter Organization Washington University in St. Louis

Presenting Author Eli Aminpour

Track Adult

Keywords

Hansen's disease

Mycobacterium leprae

GATA2 variant

immunodeficiency

mycobacterial infection

PCR diagnosis

neuropathy

skin lesions

lymphopenia

leprosy

Limited English Proficiency

Mycobacterium leprae

Sensory Loss

Peripheral Neuropathy

Immunodeficiency