Aug 2011

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

Author Affiliations

Author Affiliations: Departments of Dermatology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan (Drs Kubo, Ishigami, Murao, and Arase); Tokushima Red Cross Hospital, Tokushima (Drs Urano and Matsuda); and Asahikawa Medical College, Asahikawa, Japan (Dr Ishida-Yamamoto).

Arch Dermatol. 2011;147(8):999-1001. doi:10.1001/archdermatol.2011.217

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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