39 - A Rare Case of Extensive Hernias and Penoscrotal Webbing

Poster Board Number: 39
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Abstract Body : Introduction and Objective
A hernia occurs when tissue or organs protrude through weakened musculature or surrounding connective tissue. More than 20 million hernias are repaired every year around the world, making hernia repair a significant portion of a general surgeon’s practice (PMID: 14615114). Penoscrotal webbing (PSW) has been discussed under a variety of names, including inconspicuous penis, penoscrotal fusion, and penis palmatus. PSW is a congenital condition of unknown etiology in which a fold of skin obscures the penoscrotal angle in an otherwise normal-sized penile shaft. The prevalence of PSW is estimated to be only 4% and surgical correction is usually performed on young individuals (PMID: 20975781). There are no previous reports of the coexistence of extensive hernias with PSW.

Materials and Methods
An 81-year-old male cadaver was received through the Gift Body Program of Saint Louis University School of Medicine (SLU SOM). The self-reported medical history includes numerous hernia repairs, quadruple bypass heart surgery, IBS, diverticulitis, and hypertension. The abdomen was of abnormal appearance, suggesting extensive hernias. A diminished or buried phallus was also noted. Gross dissection was performed on the anterior abdominal wall, abdominal and pelvic cavity, and male reproductive tract. DNA from a tibia sample was extracted and whole exome sequencing (WES) was performed on the Illumina Next Generation Sequencing platform (Jenkins M, Frolov A, Tan Y et al. (2019). Ital. J. Anat. Ebryol., 124:230-246).

Results
Anatomical dissection of the abdominal wall revealed extensive herniation of small intestine within the peritoneal sac along the costal margin and extending to the left aspect of the abdomen. Due to the extent of the herniated abdominal contents and prior surgeries, it proved difficult to determine the specific types of hernias present. Consultation with a general surgeon confirmed the presence of numerous incisional hernias along a large midline scar. Other hernias such as epigastric hernia and left primary Spigelian hernia could not be ruled out. Evidence of a previous umbilical hernia repair and left femoral hernia repair were observed. The pelvis and male reproductive tract dissection demonstrated unremarkable male anatomy including a penis within the normal range of length. However, the uncircumcised phallus was buried within the suprapubic fat pad and accompanied by a simple, grade III PSW. The WES analysis revealed 110 rare (minor allele frequency, MAF ≤ 0.01), pathologic/deleterious genetic mutations. The most relevant to this case were associated with male sexual development, BMP1 and BMP4; connective tissue development, COL3A1 and COL5A3; cilia morphogenesis and function, DNAH5 and MAPK15; muscle tone regulation such as ITGA7, NRAP, POLM and XIRP2 as well as hormonal homeostasis, ESR1 and NCOR2.

Conclusion
The coexistence of extensive hernias and grade III PSW in this case may suggest a common genetic underlining.

Significance/Implication
This case is of high clinical and educational significance as it provides additional information that is pertinent to the mechanisms of male sexual development and co-occurrence of extensive hernias.

Funding Sources
This research was funded by the Center for Anatomical Science and Education, SLU SOM.