A 7-year-old girl born to consanguineous parents, had recurrent erythroderma since birth; she presented with intractable pruritus, scaling, dry skin and eczematous lesions, associated to fingers and toes onychogryphosis, along with refractory otitis. The hair was sparse and brittle, the simple light microscopic examination of hair shaft revealed a pathognomonic Bamboo aspect (trichorrehxis invaginata) and ear swab culture revealed Candida parapsilosis as otitis agent. Due to the lack of genetic routine testing, children with recalcitrant erythroderma and otitis, along with hair shaft abnormalities, need to be evaluated for Netherton syndrome.
- congenital disorders
- infant health
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Contributors YM: writing, conceptualising, editing. HD: writing, reviewing. KO: diagnostic and reviewing. KB: diagnostic and reviewing.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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