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. 2025 Oct 1:24:16-19.
doi: 10.1016/j.jdin.2025.09.006. eCollection 2026 Feb.

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response

Alexandra Carla Bobica  1   2 , Sarah Moussa  2 , Lydia Ouchene  3 , Megha Udupa  2 , Hessah BinJadeed  3 , Rahaf Bashihab  3 , Zuzanna Misiewicz  4 , Laura Grönroos  4 , Julie Powell  5 , May Chergui  6 , Tania Cruz Marino  7   8 , William D Foulkes  7   8 , Elena Netchiporouk  3
Affiliations

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response

Alexandra Carla Bobica et al. JAAD Int. .
No abstract available

Keywords: dermatopathology; epidermolysis bullosa; genetic counseling; genetics/genodermatoses; immunobullous; keratin; machine learning; retinoids.

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Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
Clinical and histopathological features of superficial epidermolytic ichthyosis in the proband. A, Clinical image of the proband’s lower leg displaying marked hyperkeratosis and diffuse scaling, characteristic of SEI, observed before initiation of retinoid treatment. B, The histological section of the right wrist shave biopsy of the proband with SEI, stained with hematoxylin and eosin, showing characteristic features. The epidermis demonstrates hyperkeratosis with compact orthokeratosis and focal epidermolytic hyperkeratosis, as evidenced by eosinophilic granular degeneration and vacuolization of keratinocytes. The underlying dermis exhibits mild inflammation. SEI, Superficial epidermolytic ichthyosis.
See this image and copyright information in PMC

References

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