NETHERTON SYNDROME – A SMALL SERIES STUDY. IS THERE A CORRELATION BETWEEN ATOPYMANIFESTATIONS ANDTHEPRESENCEOF MULTIPLE HAIR SHAFT DYSTROPHIES?

Ancuta Proca, Persa Ghitulescu, Caius Solovan

Abstract


Background: Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichtyosis, hair shaft distrophy and severe atopic diathesis. The specific hair shaft defects include trichorrhexis invaginata, trichorrhexis nodosa and pili torti. Trichorrhexis invaginata is considered to be pathognomonic of NS and its presence confirms the diagnosis.

Methods: We aimed to observe through scanning electron microscopy
the prevalence of these structural hair shaft defects among the eight cases diagnosed with NS in our clinic over a 10-year period. The examination included samples of scalp hair, eyebrows, eyelashes and pubic hair. Several clinical, biological, neuropsychological, ophthalmological, digestive and histopathological tests were also performed, including allergy testing.

Results: Trichorrhexis invaginata was evident in all cases. Trichorrhexis nodosa hair pathology represented 62.5% and pili torti 50%. When a patient presented more than one atopic manifestation (juvenile atopic dermatitis, asthma, atopic cheilitis), the hair shaft distrophies were multiple and included not only the major abnormalities (trichorrhexis invaginata, trichorrhexis nodosa, pili torti), but also longitudinal and transversal fractures of the hair shaft, breaks, fissures and splits.

Conclusions: We noticed a possible correlation between atopy manifestations and the presence of multiple hair shaft dystrophies. The occurrence of trichorrhexis invaginata is necessary to make a diagnosis of NS but its presence is inconstant and it becomes evident after the first year of life and sometimes completely regresses in adulthood.


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