Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

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)

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172