Ichthyosis hystrix, Curth-Macklin type

Definition:

Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant skin disorder characterized by spiky, verrucous hyperkeratosis of palms and soles. Diagnosis is supported by specific ultrastructural abnormalities such as perinuclear tonofibril shells of keratin intermediate filaments in binucleated suprabasal keratinocytes.

References:

[1]. Akemi Ishida-Yamamoto, et al. In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. J Invest Dermatol. 2003 Mar;120(3):498-500. [Content Brief]

[2]. Arash Kimyai-Asadi, et al. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol. 2002 Sep;47(3):327-43; quiz 344-6. [Content Brief]

[3]. Frances Smith, et al. The molecular genetics of keratin disorders. Am J Clin Dermatol. 2003;4(5):347-64. [Content Brief]

[4]. Yoshiaki Kubo, et al. Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1. Arch Dermatol. 2011 Aug;147(8):999-1001. [Content Brief]

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