Sharma Aviskar, Vadakekut Elsa S., Apostol Radu
Manipal College of Medical Sciences, Pokhara, Nepal
American College of Osteopathic Obstetricians and Gynecologists
Endometriosis is a gynecological condition characterized by the presence of endometrial-like tissue outside the uterus, typically at sites including the ovary, uterosacral ligaments, ovarian fossa, the pouch of Douglas, and the bladder, thought to be precipitated by genetic and epigenetic mutations that can predispose individuals to the disease, leading to infertility and immune system alterations. Contrary to the long-held belief that endometriosis is a progressive and recurrent disease, research indicates that most lesions are self-limiting due to fibrosis and immune response. Emerging research emphasizes the role of immune dysfunction, hormonal influences, and environmental factors in disease onset and progression. The condition presents with diverse symptoms, including pelvic pain, dysmenorrhea, and infertility, but its progression and severity vary among individuals. Diagnosis remains challenging, often leading to delayed recognition, with surgical assessment via laparoscopy historically considered the gold standard. Please see StatPearls' companion resource, "Endometriosis," for further information. Additionally, endometriosis can occur at extrapelvic/extragenital sites. Cutaneous endometriosis can be placed into the subtype of extrapelvic endometriosis. Cutaneous endometriosis is a rare condition commonly classified as primary or secondary types. Secondary cutaneous endometriosis usually develops after surgical procedures, eg, cesarean sections or laparoscopies; primary cutaneous endometriosis occurs spontaneously in <30% of cases. Primary cutaneous endometriosis arises without prior surgery, most frequently affecting the umbilicus, also known as "Villar's nodule." The condition typically manifests as a palpable, discolored skin lesion that may fluctuate in size and symptoms, including pain and bleeding over the affected sites on the skin in response to hormonal changes during the menstrual cycle. Scar or iatrogenic endometriosis is the term used for endometriosis that occurs in surgical scars, which can be cutaneous or subcutaneous, depending on the location of the lesions. Diagnosis requires a biopsy, as its appearance overlaps with various other conditions, including metastases and benign skin lesions. Surgical excision is the primary treatment, though hormonal therapy may be considered for symptom management. The underlying mechanisms of cutaneous endometriosis are still debated, with theories including metaplasia, lymphatic spread, and iatrogenic implantation. While generally benign, rare cases of malignant transformation have been reported. Imaging techniques like ultrasound and MRI aid in diagnosis, but histopathological examination remains the gold standard. Understanding the complex origins and mechanisms of cutaneous endometriosis is crucial for developing more effective diagnostic and therapeutic approaches.
子宫内膜异位症是一种妇科疾病，其特征是子宫外存在类似子宫内膜的组织，通常位于卵巢、子宫骶韧带、卵巢窝、Douglas陷凹和膀胱等部位，据认为是由遗传和表观遗传突变引发的，这些突变会使个体易患该疾病，进而导致不孕和免疫系统改变。与长期以来认为子宫内膜异位症是一种进行性和复发性疾病的观点相反，研究表明，由于纤维化和免疫反应，大多数病变是自限性的。新出现的研究强调了免疫功能障碍、激素影响和环境因素在疾病发生和发展中的作用。该疾病表现出多种症状，包括盆腔疼痛、痛经和不孕，但个体之间其进展和严重程度各不相同。诊断仍然具有挑战性，常常导致诊断延迟，历史上腹腔镜手术评估一直被视为金标准。有关更多信息，请参阅StatPearls的配套资源“子宫内膜异位症”。此外，子宫内膜异位症可发生在盆腔外/生殖器外部位。皮肤子宫内膜异位症可归入盆腔外子宫内膜异位症的亚型。皮肤子宫内膜异位症是一种罕见疾病，通常分为原发性或继发性类型。继发性皮肤子宫内膜异位症通常在手术（如剖宫产或腹腔镜手术）后发生；原发性皮肤子宫内膜异位症在不到30%的病例中自发出现。原发性皮肤子宫内膜异位症在没有先前手术的情况下发生，最常累及脐部，也称为“Villars结节”。该疾病通常表现为可触及的、变色的皮肤病变，其大小和症状可能会波动，包括在月经周期中因激素变化而在皮肤受影响部位出现疼痛和出血。瘢痕或医源性子宫内膜异位症是指发生在手术瘢痕中的子宫内膜异位症，根据病变位置，瘢痕可以是皮肤的或皮下的。诊断需要活检，因为其外观与包括转移瘤和良性皮肤病变在内的各种其他病症有重叠。手术切除是主要治疗方法，不过也可考虑采用激素疗法来控制症状。皮肤子宫内膜异位症的潜在机制仍存在争议，理论包括化生、淋巴扩散和医源性植入。虽然通常为良性，但也有罕见的恶变病例报道。超声和MRI等成像技术有助于诊断，但组织病理学检查仍然是金标准。了解皮肤子宫内膜异位症的复杂起源和机制对于开发更有效的诊断和治疗方法至关重要。
