ABSTRACT
Sacrococcygeal pilonidal sinus disease (SPND) is an acquired chronic disease with no precise etiopathogenesis. The morbidity associated with the disease necessitates the implementation of new techniques, such as sinus laser therapy (SiLaT), to improve disease management. However, surgical techniques as of now are preferred as the mainstay mode of treatment. A retrospective study was conducted to evaluate and report the healing outcome of the application of SiLaT on patients with SPND at a tertiary center. All patients who underwent SiLaT for primary or recurrent pilonidal sinus from February 2012 to December 2019 were included in the study and followed up for at least six months. Forty-one participants (37 males (90.2%) and four females (9.8%)) were included. Of the participants, 58.5% presented with chief complaints of painful swelling with mucopurulent discharge. Most of the participants were students (43.9%). SiLaT was the primary intervention for 82.9% of the participants. The mean duration of hospital stays, resumption of regular activity, and complete wound healing by secondary intention were 30±21.5 hours, 18.4±14.3 days, and 6.5±6.6 weeks, respectively. Around 95.1% of wounds healed without complications. The overall recurrence rate was 24.4%, while the recurrence rate with SiLaT being the primary intervention was 11.8%. Only three (7.32%) patients experienced wound infections as postoperative complications. The visual analog scale (VAS) score decreased postoperatively in the first and second weeks to 3.9±3.2 and 1.9±1.9, respectively, and 78.1% of the total patients showed satisfaction post-surgical interventions. The current study showed that the SiLaT technique is a feasible technology with promising results to evolve. Further studies are encouraged.
ABSTRACT
The constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and challenging condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and leads to multiorgan cancers. Therefore, we report the first case of advanced juvenile rectal cancer related to CMMRD syndrome in the Gulf region. She is a 13-year-old female, born to non-consanguineous parents with a positive family history of malignancy, presented with an eight-month history of a retractable bulging anal mass associated with diarrhea mixed with blood and constitutional symptoms. She was cachectic with café au lait spots all over her body. Upon investigation, she was found to have invasive rectal adenocarcinoma. The case was started on neoadjuvant chemoradiotherapy in addition to genetic testing which showed a homozygous pathogenic variant in PMS2, indicating CMMRD syndrome. The patient underwent pre-operative post-neoadjuvant reassessment followed by laparoscopic total proctocolectomy with ileal J-pouch creation and ileoanal anastomosis with temporary diverting loop ileostomy which later on was reversed with no complications or recurrence. The family declined to continue the adjuvant therapy but accepted the surveillance programs and genetic testing. Unusual or late presentation secondary to a very rare syndrome like CMMRD is a major challenge to clinicians, hence a high index of suspicion and proper utilization of genetics programs might be the best available solutions.
