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Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities

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Abstract

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.

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Acknowledgements

The Authors acknowledge Dr. Asif Kamal, Consultant Dermatologist, NESCOM Hospital, Pakistan and Dr. Ayesha Butt, Dermatologist and cosmetologist, Shaafi International Hospital for their assistance regarding the management of ichthyosis syndromes.

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  1. Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan

    Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Asma Gul & Sumbal Khalid

  2. Department of Biology, Lahore Garrison University, Lahore, Pakistan

    Imran Afzal

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Rasheed, M., Shahzad, S., Zaeem, A. et al. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities. Arch Dermatol Res 309, 773–785 (2017). https://doi.org/10.1007/s00403-017-1780-x

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