Skip to main content
Fig. 1 | BMC Genetics

Fig. 1

From: The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Fig. 1

Skin symptoms, histology findings and pedigree of a Spanish family with multiple familial trichoepithelioma type 1. Two affected family members were identified. a The father presented skin-colored papules in the periorbital region, nose, nasolabial folds and upper lip. b Histological features of trichoepithelioma were islands of basaloid cells with peripheral palisading and small horny cysts (hematoxylin-eosin staining; original magnification × 10). c The daughter presented similar but smaller and fewer lesions in the nasolabial fold. d The pedigree of the investigated family. Written informed consent was obtained from all participants to publish this article and its accompanying images

Back to article page

BMC Genomic Data

ISSN: 2730-6844

Contact us