Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.

Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family. The proband was the younger sister who was referred for bilateral dysgerminoma. She had a normal blood karyotype, and whole-exome sequencing analysis revealed a novel homozygous missense variant, c.275C>T, in SOHLH1; several family members were also analyzed. In addition to pure dysgerminoma, histopathological analysis revealed an ovarian cortex with fibrosis and almost total absence of follicles. This work confirms the inheritance of ovarian dysgenesis 5, supports the occurrence of cell loss in mouse models, and suggests that affected women should undergo periodic imaging surveillance due to the likely risk of tumor development.

Pachydermodactyly: Soft Tissue Enlargement of the Fingers in a Teenager.

Pachydermodactyly (PDD) is an uncommon and benign digital fibromatosis of unknown etiology. It is characterized by a fusiform swelling of the medial and lateral sides of the fingers, with unspecific histopathological features of an increased number of fibroblasts, collagen, and mucin deposit in the dermis. Due to its rarity, PDD could be misdiagnosed as rheumatic arthropathies, which could lead to unnecessary immunosuppressant treatments. Here, we report the case of a 16-year-old boy who presented progressive and asymptomatic soft tissue enlargement of multiple fingers in both hands. The histopathological study and X-ray findings correlated with PDD diagnosis. Intralesional corticoid treatment was indicated with a mild improvement.