SLMSs are rare but important smooth muscle tumors of the skin. The clinical presentation may be non-specific. The histologic appearance is that of a smooth muscle lesion, but epidermal hyperplasia and thickened collagen bands are previously underrecognized features. Immunohistochemical stains are useful in confirming smooth muscle differentiation, but CD117 is of limited utility. SLMS can appear low grade or even benign on superficial biopsies, leading to undergrading or a delay in the correct diagnosis. Clinicians and pathologists alike should therefore be aware of these pitfalls and must approach these cases with caution.

Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a lethal skeletal dysplasia characterized by severe deficiency of vertebral body and sacral ossification, reduced rib number and cystic kidneys. In this study, however, we have demonstrated that variants in BMPER may cause a milder disorder, without renal anomalies, that is compatible with long-term survival. Four siblings, three males and one female, presented with severe congenital scoliosis associated with rib and vertebral malformations as well as strikingly delayed ossification of the pedicles. The female was stillborn from an unrelated cause. Stabilization of the scoliosis with expandable titanium rods was successful in the three boys, all of whom have short stature. An autosomal recessive mode of inheritance was hypothesized. Single nucleotide polymorphism microarray analysis was performed for three of the siblings to identify autosomal genes with shared allele patterns, suggesting possible linkage. Exome sequencing of one sibling was then performed. Rare variants were identified in 347 genes with shared alleles. Only one of these genes had bi-allelic variants in a gene strongly expressed in paraxial mesenchyme: BMPER, which is the cause of DSD, an autosomal recessive disorder. The disorder described herein could represent an attenuated form of DSD or could be designated a separate entity such as spondylopedicular dysplasia.

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Vaginal polyps and premalignant-malignant cervico-vaginal polyps are rare. Vaginal polyps are larger and multiple and cervico-vaginal polyps in younger and older women are at greater risk of premalignant-malignant changes.