The clinicopathologic features of nine cases of a distinctive female adnexal tumor are presented. These tumors arose within the leaves of the broad ligament or hung on pedicles from it or the fallopian tube. Predominantly solid on gross examination, they were characterized microscopically by epithelial cells growing in diffuse, trabecular, and tubular patterns. Despite the presence of mitotic activity and capsular invasion, none of the tumors has proven to be malignant, although the follow‐up has been short in several of the cases. The exclusion of other possible origins and the microscopic features of the tumors are compatible with their development from wolffian remnants. The term “female adnexal tumor of probable wolffian origin” is considered most appropriate for these neoplasms.

We report on a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. Chromosomal studies of the proband showed 46,XY,add(2)(q37)dn and those of the parents were normal. The rearranged material in the patient was further defined using array comparative genomic hybridization (array CGH), which revealed loss of 2Mb distal to 2q37.3 and duplication of 15Mb from 5q34 --> qter. Fluorescence in situ hybridization (FISH) studies using subtelomeric 2q and 5q probes showed the 2q deletion and 5q duplication resulting from a rearrangement of the segment from 5q onto the long arm of chromosome 2. FISH studies of the parents did not show any rearrangement. Recently it has been proposed that an extra copy of MSX2 that maps to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation. Our case further supports the role of MSX2 duplication in the etiology of craniosynostosis.

More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome.Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance.Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. "Whole" exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in ITGB4. The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in PLEC1. The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant.PLEC1 and ITGB4 have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. K E Y W O R D Saplasia cutis congenital, autosomal recessive, ITGB4, PLEC1, total skin aplasia