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Case Reports
. 2014 Oct 11;6(3):232-8.
doi: 10.1159/000368823. eCollection 2014 Sep.

A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN

Hiroshi Kawakami  1 , Masaki Uchiyama  1 , Tatsuo Maeda  1 , Takahiko Tsunoda  2 , Yoshihiko Mitsuhashi  1 , Ryoji Tsuboi  1
Affiliations
Case Reports

A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN

Hiroshi Kawakami et al. Case Rep Dermatol. .

Abstract

A 54-year-old Japanese woman had repetitive superficial skin peeling and ensuing erythematous changes in the sites since infancy. Her parents had a consanguineous marriage, and she was the only individual affected in her family tree. The erythematous changes seemed to worsen in the summer. Histologically, hyperkeratosis and splitting of the epidermis within the stratum corneum was noted, and electron microscopy revealed shedding of corneal cells in the horny layer and normal-looking corneodesmosomes. Gene analysis revealed a homozygous missense mutation at c.1358G>A in CDSN. Electron microscopic examination of the length and number of corneodesmosomes revealed statistically significant shortness and sparsity in the affected individual (mean ± SD 386.2 ± 149.5 nm) compared with that of an age- and site-matched control (406.6 ± 182.3 nm). We speculate that this size shrinkage of corneodesmosomes might be the result of a missense mutation of CDSN and that this could be one of the factors contributing to the pathological process of skin peeling.

Keywords: CDSN; Corneodesmosomes; Homozygous missense mutation; Inflammatory generalized peeling skin syndrome.

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Figures

Fig. 1
Fig. 1
Peeling of the skin was noted on both palms, thighs and buttocks. Erythematous color changes at the site of peeling were observed. Shedding of the skin was observed more prominently on the palms, forearms and intertriginous areas than on the torso.
Fig. 2
Fig. 2
Basket weave-type hyperkeratosis with half of the stratum corneum in the right upper portion of the image seemingly sloughed off. The figure shows the original stratum corneum with the residual half above it and the area left of the center missing the upper corneal sheet.
Fig. 3
Fig. 3
Electron microscopy showed split formation (arrows) between the corneocyte rows. However, whether this change stemmed from a pathological cause or was an artefact is not clear. As shown by the circles, corneodesmosomes were found between the corneocytes, and abnormalities in the density and morphology of the corneodesmosomes were not obvious.
See this image and copyright information in PMC

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