Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. Sequencing of the coding regions and splice junctions of KRT14 and SMARCAD1 was performed using PCR-amplified genomic DNA isolated from blood or saliva and standard PCR protocols. In vitro functional studies were performed for a variant identified in SMARCAD1. While direct sequencing of KRT14 failed to reveal any likely pathogenic sequence alterations or splice site variants, a heterozygous splicing variant (c.378+3A>T) that segregated with the disease was identified in the skin-specific isoform of SMARCAD1. In vitro studies failed to demonstrate a splicing defect in SMARCAD1. We screened two candidate genes for Basan syndrome in a 3-generation pedigree. The skin-specific isoform of SMARCAD1 remains a good candidate for this disease.

No abstract

No abstract

Hypertrichosis is a condition in which hair is longer and denser than what is considered normal for an individual based on age, sex, ethnicity, and location on the body and can be classified based on its distribution (generalized vs localized), age of onset (congenital vs acquired), and type of hair (lanugo or vellus vs terminal). We describe a rare case of monozygotic female twins who presented for localized hypertrichosis of the intermammary cleft that developed during puberty. Endocrine examination was unremarkable. Discussion of various treatment modalities should be considered, because localized hypertrichosis may have a considerable psychosocial effect.

No abstract