Stridor Misleading as Asthma: Unveiling Case of Shabbir Syndrome in an Atopy-Prone 2.5 Years Old Pakistani

Laryngo-onycho-cutaneous syndrome (LOCS), or Shabbir's syndrome, linked to mutations in the LAMA3 gene, is predominantly observed in children from Punjabi families. We present the case of a 2.5-year-old male who was initially misdiagnosed with asthma due to progressive hoarseness and stridor. Further evaluation revealed biphasic stridor, paronychia, conjunctival inflammation, nail dystrophy and widespread mucocutaneous lesions. Laryngoscopy showed glottic granulation tissue and subglottic stenosis. While genetic testing was unavailable due to resource limitations, histopathological findings supported a clinical diagnosis of LOCS. Through this case report, we aim to highlight the importance of considering LOCS diagnosis in children with atypical respiratory symptoms complemented by mucocutaneous findings, especially in atopy-prone populations. Early diagnosis is critical to prevent complications like airway obstruction. Management remains supportive, involving surgical and ophthalmologic interventions.