Make the Diagnosis

A 27-year-old Haitian woman presented with a painful umbilical mass which had been growing in size for 5 months

A 27-year-old Haitian woman presented with a painful umbilical mass that had been growing in size for 5 months. The mass was tender to the touch and occasionally accompanied by drainage of a malodorous discharge. On physical examination, a firm, exophytic umbilical nodule was observed. Her past medical history is significant for laparoscopic cholecystectomy 2 years ago prior to presentation.

What's your diagnosis?

Sister Mary Joseph nodule

Cutaneous endometriosis

Keloid

Dermatofibroma

Umbilical hernia

Endometriosis is defined as the presence of endometrial tissue outside of the uterine cavity, commonly occurring in women of reproductive age. The condition usually affects the adnexa (ovaries, Fallopian tubes, and associated ligaments and connective tissue) but can also be seen in extrapelvic structures.

Cutaneous endometriosis is an uncommon subtype that accounts for 1% of endometriosis cases and occurs when endometrial tissue is found on the surface of the skin. It is divided into primary and secondary cutaneous endometriosis. The etiology of primary cutaneous endometriosis is idiopathic, while the secondary form is believed to be a consequence of abdominal or pelvic procedures that may lead to seeding of endometrial tissue on the skin. In the case of our patient, it appears that her laparoscopic procedure 2 years ago was the cause of endometrial seeding in the umbilicus.

Clinically, the condition may present with a palpable mass, cyclic pain, and bloody discharge from the affected area. Due to the rarity of cutaneous endometriosis, it may be hard to distinguish from other diagnoses such as keloids, dermatofibromas, hernias, or cutaneous metastasis of cancers (Sister Mary Joseph nodules).

Dr. Donna Bilu Martin, Premier Dermatology, MD, Aventura, Fla.

Dr. Donna Bilu Martin

The definitive diagnosis can be made by biopsy and histopathological assessment showing a mixture of endometrial glands and stromal tissue. Imaging studies such as computed tomography (CT) scan and magnetic resonance imaging (MRI) are helpful in excluding more common diagnoses such as hernia or cutaneous metastasis. In this patient, the mass was surgically excised. Histopathological assessment established the diagnosis of cutaneous endometriosis.

Treatment options include surgical excision and medical therapy. Medical therapy entails the use of hormonal agents such as gonadotropin-releasing hormone agonists, danazol (a pituitary gonadotropin inhibitor), and oral contraceptives, which reduce the cyclical proliferation of endothelial tissue. These agents can be used preoperatively to reduce the size of the cutaneous mass before surgical excision, or as an alternative treatment for patients who wish to avoid surgery. The rate of recurrence is observed to be higher with medical therapy rather than surgical treatment.

The case and photo were submitted by Mina Ahmed, MBBS, Brooke Resh Sateesh MD, and Nathan Uebelhoer MD, of San Diego Family Dermatology, San Diego, California. The column was edited by Donna Bilu Martin, MD.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Florida. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to dermnews@mdedge.com.

References

1. Gonzalez RH et al. Am J Case Rep. 2021;22:e932493-1–e932493-4.

2. Raffi L et al. Int J Womens Dermatol. 2019 Dec;5(5):384-386.

3. Sharma A, Apostol R. Cutaneous endometriosis. Treasure Island, Fla: Statpearls Publishing, 2023.

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