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Case Reports
. 2021 Nov 25;9(11):e05108.
doi: 10.1002/ccr3.5108. eCollection 2021 Nov.

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

Agata Moar  1 , Manfredo Bruni  1 , Donatella Schena  1 , Erika Rigotti  2 , Chiara Colato  3 , Antonio Novelli  4 , Claudia Cesario  4 , Giampiero Girolomoni  1
Affiliations
Case Reports

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

Agata Moar et al. Clin Case Rep. .

Abstract

A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations.

Keywords: Netherton syndrome; SPINK5; atopic dermatitis; filaggrin 2; ichthyosis; trichorrhexis invaginata.

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Conflict of interest statement

The authors declare no conflict of interests.

Figures

FIGURE 1
FIGURE 1
(A, B), erythematous, scaly lesions, and erosions with periferical fine scale; ©, trichoscopy showig trichorrhexis invaginata of hairs; (D), examination of the hair under light microscopy showing the presence of golf‐tee hair; (E, F), marked hyperortoparacheratosis arranged in parallel laminae with an orthokeratotic stratum corneum thicker than the rest of the epidermis, forming the collarette scale, with a mild perivascular lymphohistiocytic infiltrate in the papillary dermis (hematoxylin and eosin, original magnification: (E) ×40; (F) ×100)
FIGURE 2
FIGURE 2
(A) dermatoscopy showing double‐edged scale; (B) vesicles with serous‐hemorrhagic content and honey crusts localized on the right hemiface and in the right retroauricular region were evident; (C, D), marked improvement of skin lesions at the follow‐up visit
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References

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