Netherton syndrome associated to Candida parapsilosis otomycosis

Area of Science:

• Dermatology and Genetics
• Pediatric rare diseases
• Clinical case study

Background:

• Netherton syndrome is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma, atopic dermatitis, and hair shaft abnormalities (trichorrhexis invaginata).
• Early diagnosis and management are critical for improving patient outcomes and preventing complications.
• Consanguinity is a known risk factor for autosomal recessive genetic disorders.

Observation:

• A 7-year-old girl with consanguineous parents presented with lifelong recurrent erythroderma, intractable pruritus, scaling, dry skin, and eczematous lesions.
• Associated symptoms included onychogryphosis of fingers and toes, refractory otitis externa, and sparse, brittle hair.
• Microscopic examination of hair shafts revealed the pathognomonic 'bamboo hair' appearance (trichorrhexis invaginata).

Findings:

• Ear swab culture identified *Candida parapsilosis* as the causative agent of otitis.
• The clinical presentation, particularly the combination of erythroderma, pruritus, onychogryphosis, otitis, and characteristic hair shaft abnormalities, strongly suggested Netherton syndrome.
• The case highlights the diagnostic challenges in resource-limited settings lacking routine genetic testing.

Implications:

• This case underscores the importance of considering Netherton syndrome in children presenting with recalcitrant erythroderma, chronic otitis, and hair shaft abnormalities.
• Prompt clinical evaluation and, where available, genetic testing can facilitate early diagnosis and appropriate management strategies.
• Increased awareness among clinicians is vital for timely identification and intervention in suspected Netherton syndrome cases.