Ichthyosis hystrix Lambert type and Curth-Macklin type are a single entity with affected ( KRT1 mutation) or unaffected ( KRT10 mutation) palms and soles?
2016
Ichthyosis hystrix Lambert type (IHL) and Curth-Macklin type (IHCM) are very rare conditions characterised by striking hyperkeratotic lesions. They differ from epidermolytic ichthyosis, referred to as “IH Brocq type” in earlier reports by the absence of blister formation clinically and the presence of perinuclear tonofilament shells ultrastructurally. In IHCM, the palms/soles are affected, which is not the case in IHL [1-3]. To date, there have been four reports of KRT1 mutations in IHCM [4-7], [...]
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