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Correspondence | Aug 2011

Ichthyosis Hystrix, Curth-Macklin Type: A New Sporadic Case With a Novel Mutation of Keratin 1

Yoshiaki Kubo, MD, PhD; Yoshio Urano, MD, PhD; Rie Matsuda, MD; Takeshi Ishigami, MD; Kazutoshi Murao, MD, PhD; Seiji Arase, MD, PhD; Akemi Ishida-Yamamoto, MD, PhD
Arch Dermatol. 2011;147(8):999. doi:10.1001/archdermatol.2011.217.
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Ichthyosis hystrix, Curth-Macklin type (IHCM) is a rare autosomal dominant disorder characterized by extensive, spiky, or verrucous hyperkeratosis; perinuclear shells in binucleated suprabasal keratinocytes are seen on electron microscopy.1 The skin over large joints and the trunk are affected. Originally, IHCM was described in patients with palmoplantar keratoderma (PPK),1 but patients with IHCM without PPK have also been described.2 To date, 2 distinct germline mutations of the V2 tail domain of the KRT1 gene (OMIM 139350), which encodes keratin 1 (K1), have been identified in 2 families with IHCM.3- 4 We report a new sporadic case of IHCM that has been proven to have a novel mutation of the V2 tail domain of KRT1.
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Figure 1. Clinical and histologic images. A, severe hyperkeratotic lesions on both knees. B and C, Hematoxylin-eosin –stained specimens taken from the left wrist show acanthotic and papillomatous epidermis with severe hyperkeratosis (original magnifications ×40 [B] and ×100 [C]). D, Electron microscopy demonstrates the shell-like structure and some depositions of keratohyalin granules in binucleated cells (original magnification not reported).

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Figure 2. Sequence analysis of the KRT1 gene with a reverse primer. Compared with a healthy control (A), insertion of A followed by a frame shift in one allele of the patient was detected (B).

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