Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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
See this image and copyright information in PMC

References

    1. Wilkinson RD, George HC, William AH. Netherton’s disease: trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis. A histopathologic study. Arch Dermatol. 1964;89(1):46‐54. - PubMed
    1. Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000;25(2):141‐142. - PubMed
    1. Sprecher E, Chavanas S, DiGiovanna JJ, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001;117(2):179‐187. - PubMed
    1. Sarri CA, Roussaki‐Schulze A, Vasilopoulos Y, et al. Netherton syndrome: a genotype‐phenotype review. Mol Diagn Ther. 2017;21(2):137‐152. - PubMed
    1. Schepis C, Siragusa M, Centofanti A, Vinci M, Calì F. Two siblings affected by Netherton/comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant. Dermatol Online J. 2019;25(7):13030/qt0881q3sk. - PubMed

Publication types

LinkOut - more resources