Ichthyosis as the dermatological phenotype associated to TTC7A mutations

Abstract

The phenotype associated to spontaneous mutation in the Tetratricopeptide Repeat Domain 7A (TTC7A) in the flaky skin (fsn) mice¹ combines gastric hyperplasia, hyperproliferative immune disorder and skin anomalies. All fsn mice progressively develop thick white scales and patchy alopecia that turns into papulo-squamous lesions, marked hyperkeratosis and hypergranulosis associated to a dermal mixed inflammatory infiltrate on skin biopsy^2,3. To date, the fsn mouse constitutes a model for human psoriasis vulgaris³.

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