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Session: ePoster: Basic and Translational Science 1 (Sun8)

EP205 - Genes Critical to Hair Growth and Patterning are Implicated in Pilonidal Sinus Disease: Bench to Bedside Immunohistochemical Analysis

Sunday, May 11, 2025
8:32 AM – 8:37 AM PT
Location: Monitor 1, Sails Pavilion, Upper Level

    ePoster Presenter(s)

  • Jeffrey L. Roberson, MD

    Resident
    The Hospital of the University of Pennsylvania
    The Hospital of the University of Pennsylvania
    Philadelphia, Pennsylvania, United States

    All of the relevant financial relationships listed below have been mitigated.
    This individual has no financial relationships with ineligible companies.

    • Author(s)

  • RG

    Radhika Gupta, BS

    Medical Student
    Perelman School of Medicine at the University of Pennsylvania
    Marlboro, New Jersey, United States

    Disclosure information not submitted.

  • EM

    Eric Morgan, MD

    Assistant Professor of Pathology, Dermatopathologist
    Duke University Health
    Durham, North Carolina, United States

    Disclosure information not submitted.

  • VF

    Victoria Fang, MD, PhD

    Clinical Instructor
    Department of Dermatology
    Philadelphia, Pennsylvania, United States

    Disclosure information not submitted.

    • Senior Author(s)

  • LM

    Lillias Maguire, MD (she/her/hers)

    Assistant Professor of Surgery
    University of Pennsylvania
    Philadelphia, Pennsylvania, United States

    All of the relevant financial relationships listed below have been mitigated.
    This individual has no relevant relationships with ineligible companies.

All of the relevant financial relationships listed below have been mitigated.
Jeffrey L. Roberson, MD: This individual has no financial relationships with ineligible companies.
Lillias Maguire, MD: This individual has no relevant relationships with ineligible companies.
Image or Table (Do Not add text here):

Purpose/Background: Although the etiopathogenesis of pilonidal sinus disease (PSD) is incompletely understood, clinical associations between PSD and family history, male gender, hair traits, and other skin conditions, such as hidradenitis suppurativa (HS), have long been appreciated. A recent genome wide association study (GWAS) supported and detailed these associations by describing the genetic background of PSD. The GWAS identified genes related to hair growth and patterning: HDAC9, NEK9, TWIST1, TBX15 and implicated androgen biology. This study further interrogated those GWAS findings by analyzing expression in PSD resection specimens.

Methods/Interventions: Eleven wide local excisions of PSD specimens were compared to age and sex-matched non-diseased control gluteal skin. All specimens were sectioned at a thickness of five microns with single antibody staining for HDAC9, NEK9, TWIST, TBX15, and the androgen receptor at accepted dilution ratios and incubation times and visualized with diaminobenzidine photooxidation. Disease and control specimens’ signals were compared qualitatively and quantitatively.

Results/Outcomes: PSD specimens demonstrated subcutaneous inflammatory infiltrates with the presence of tertiary lymphoid structures (TLS) noted. Diseased specimens had increased expression of HDAC9, NEK9, and TWIST1 signals in the polymorphous infiltrating region compared to control samples. Specifically, HDAC9 demonstrated increased expression in dermal areas of inflammatory infiltrate (Image 1, A control B disease). TBX15 and androgen receptor exhibit slightly enhanced signals in the epidermis; however, there is no discernible difference in signals in the polymorphous infiltrated region.

Conclusion/Discussion: Increased expression of HDAC9, NEK9, and TWIST1 in polymorphous infiltrating regions of PSD specimens supports a potential role for these genes in disease pathogenesis. Additionally, the finding of TLSs in diseased specimens is novel. TLSs are organized inflammatory clusters outside of lymphoid tissues. TLSs have been previously in HS, but not PSD. This bench to bedside study provides support for a genetic component to PSD and demonstrates a novel inflammatory link to HS.