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Case Reports
. 2020 Oct 6;100(17):adv00285.
doi: 10.2340/00015555-3643.

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

Naomi Tani  1 , Nanako Yamada, Tetsuya Okazaki, Takashi Horie, Hajime Nakano, Daisuke Sawamura, Osamu Yamamoto
Affiliations
Case Reports

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

Naomi Tani et al. Acta Derm Venereol. .
No abstract available

Keywords: cholesterol clefts; electron microscopy; lamellar granules; transglutaminase 1; bathing suit ichthyosis.

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Figures

Fig. 1
Fig. 1
(a) Clinical findings at initial visit at 0 days of age. The patient’s entire body was covered with a semi-transparent shiny cellophane-like membrane and the inguinal skin showed notable fissures. (b) Histopathology of a biopsied specimen taken from the abdomen at 7 days of age. Histopathology showed compact hyperkeratosis, a normal granular layer and minimum inflammatory infiltration in the superficial dermis (haematoxylin-eosin stain, original magnification ×100). (c–e) Transmission electron microscopy (SU6600 field emission scanning electron microscope (Hitachi, Tokyo, Japan)). (c) Crystalloid structures, so-called cholesterol clefts (*), inside some of the corneocytes. Keratohyalin granules that were small in number and in size (arrows). (d) Hypoplasia of a marginal band of corneocytes (arrows). (e) Vacuolated lamellar granules (arrows). (f) The compound heterozygous TGM1 mutations p. R307W (c. 919C>T) and p. R225Pfs*14 (c. 671dupT) were detected in the patient. P. R225Pfs*14 was present in the father and p. R307W was shown to be maternal.
Fig. 2
Fig. 2
(a) Clinical findings at 3 months of age. Multiple brown scales remained over the patient’s forehead, trunk and extremities. (b) Clinical findings at 8 months of age. Brownish scaling remained on her forehead, trunk, flexor of the upper extremities, popliteal region, feet and hands. Other regions of her face and outside of the superior limb and both lower extremities showed a normal appearance. (c) Thermography image which were taken using a INF-3000 thermograph (Nihon Kohden, Tokyo, Japan) at 8 months of age. The areas of higher temperature in the thermography image correspond to the distribution of ichthyosiform skin lesions.
See this image and copyright information in PMC

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References

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