Ichthyosis hystrix is a rare autosomal dominant genodermatosis, characterized by persistent spiny hyperkeratotic scales which cover a significant part of the skin surface. Based on the pattern of distribution, five clinical variants namely Brocq type, Lambert type, Curth-Macklin type, Rheydt type and Bδfverstedt type have been described. We report the case of an 11-year-old male child with spiny, hyperkeratotic scales all over the body since birth with sparing of scalp and central part of the face. Palmoplantar keratoderma was also present. These clinical features are suggestive of Ichthyosis Curth Macklin, which has been typically described in families. However, family history was negative in our patient. The case is being reported on account of rarity of the disease, that too with a very rare sporadic presentation.
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http://dx.doi.org/10.4103/0019-5154.164439 | DOI Listing |
Clin Exp Dermatol
August 2020
Departments of, Department of, Dermatology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), Beijing, China.
Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.
View Article and Find Full Text PDFPLoS One
July 2018
Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain.
View Article and Find Full Text PDFInt J Womens Dermatol
March 2017
Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Int J Womens Dermatol
September 2016
Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Indian Dermatol Online J
January 2017
Department of Dermatology and Venereology, Pramukhswami Medical College, Karamsad, Gujarat, India.
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