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. 2017 Dec 6;12:176. doi: 10.1186/s13023-017-0728-8

Fig. 1.

Fig. 1

Clinical features of the index patient following initiation of acitretin therapy, including hypotrichosis and ichthyosis (a-b), along with follicular atrophoderma (c). Scanning electron microscopy of the patient’s scalp hair displaying longitudinal ridging (d), pseudomonilethrix (e), and cuticular fraying (f). Pedigree showing first-cousin consanguinity in the patient’s parents (g). Sanger sequencing of the index patient’s genomic DNA displaying the homozygous p.Asp482Asn mutation in ST14 (h). Skin histology of the patient’s epidermis (i) and a hair follicle (j)