Steatocystoma multiplex (SM) is a rare genetic disorder characterized by the development of multiple sebaceous cysts, typically on the chest, upper arms, and scrotum. These cysts are yellow to white papules or nodules that range in size from 2 mm to 2 cm. The condition may present in both inherited and sporadic forms. While typically benign, these cysts can cause cosmetic concerns and may occasionally become infected or cause discomfort. This article explores the pathophysiology, clinical presentation, and treatment options for steatocystoma multiplex, with a focus on current management strategies.

Pathophysiology and Genetics

Steatocystoma multiplex is primarily inherited in an autosomal dominant manner, meaning that one copy of the mutated gene is sufficient to cause the disorder. Mutations in the TP53 gene, which encodes a tumor suppressor protein involved in cell cycle regulation and apoptosis, have been identified in some cases of SM. In addition to inherited forms, SM can also occur sporadically without a clear family history, though the underlying genetic causes in these cases remain largely unknown.

Clinical Features

The primary clinical manifestation of steatocystoma multiplex is the appearance of multiple, small, firm, yellow to white papules or cysts on the skin. These cysts are commonly found on the chest, scrotum, face, and upper arms. They can vary in size from a few millimeters to several centimeters in diameter and are often multiple and symmetrically distributed. The cysts may rupture or become infected, leading to local inflammation, pain, or discharge of the thick, tenacious material from the cysts. When pressure is applied, the cysts exude a yellow to white, thick, and oily fluid.

In some cases, the cysts can enlarge and become cosmetically concerning or cause physical discomfort, particularly when they develop in areas prone to friction, such as the scrotum. While the cysts themselves are benign, they may occasionally lead to secondary bacterial infections, abscess formation, or scarring.

Diagnosis

The diagnosis of steatocystoma multiplex is generally clinical, based on the characteristic appearance of multiple sebaceous cysts in the typical locations. In cases where the diagnosis is uncertain or when the presentation is atypical, genetic testing for mutations in the TP53 gene may be conducted. Additionally, histological examination of a cyst may show the characteristic features of a sebaceous cyst, including a lining of stratified squamous epithelium and keratinized material within the cyst cavity.

Treatment

Treatment for steatocystoma multiplex is primarily focused on improving cosmetic outcomes and alleviating any discomfort or complications associated with the cysts. While no definitive cure exists for the condition, several management options are available to control symptoms and prevent complications.

• Surgical Excision
  Surgical removal of individual cysts remains the most effective treatment for localized cases of SM. When there are only a few cysts, excision can be performed with excellent cosmetic results. The procedure involves removing the cyst along with its wall to reduce the likelihood of recurrence. However, in cases where multiple cysts are present or when the cysts are located in difficult-to-reach areas, surgical excision may not be practical or feasible.
• Drainage
  In cases where surgical excision is not possible or if the cysts are inflamed, drainage may provide temporary relief. Aspiration or drainage of the cysts with a large needle can help reduce the size of the cysts and alleviate any associated discomfort. However, this method does not eliminate the cysts, and they are likely to refill over time.
• Pharmacologic Therapy
  Several pharmacologic treatments have been explored for managing steatocystoma multiplex, though their effectiveness is often variable.
  • Oral Antibiotics: Antibiotics, particularly those in the tetracycline family (e.g., doxycycline), have been used in an attempt to control secondary infections or to reduce the size of the cysts. However, their effectiveness is generally limited, and they are not considered a primary treatment for the condition.
  • Oral Retinoids: Systemic retinoids, such as isotretinoin (Accutane), have been used with mixed results. Some patients experience significant improvement in the number and size of cysts, while others report worsening of the condition. Retinoids are thought to work by reducing sebaceous gland activity, but their use in SM remains controversial due to inconsistent outcomes.
• Laser Therapy and Chemical Peels
  In some cases, dermatologic procedures such as laser therapy or chemical peels may be used to treat cysts and improve skin appearance. These treatments are typically reserved for patients with mild forms of the condition and are used to reduce the visibility of lesions rather than eliminate the cysts entirely.

Emerging Treatments

Ongoing research into the pathophysiology of steatocystoma multiplex may lead to new treatment strategies in the future. Investigating the role of TP53 mutations and exploring gene therapy or targeted treatments aimed at regulating sebaceous gland function could provide new avenues for treatment.

Prognosis and Management Challenges

While steatocystoma multiplex is a chronic condition, it is not life-threatening. The prognosis is generally good, and most individuals with the condition can manage their symptoms with appropriate treatment. However, the presence of multiple cysts, particularly when they are widespread or located in visible areas, can lead to significant cosmetic concerns and emotional distress. The challenge in managing this condition lies in the recurrence of cysts and the difficulty in achieving a permanent solution.

Conclusion

Steatocystoma multiplex is a genetic disorder characterized by the formation of multiple sebaceous cysts, which can be cosmetically distressing and occasionally cause discomfort. Treatment options include surgical excision, drainage, and pharmacologic therapies, such as oral antibiotics and retinoids, though their effectiveness varies. Ongoing research may provide new insights into the condition’s pathophysiology and lead to more effective therapies. In the meantime, a personalized approach to treatment is essential, considering the severity and location of the cysts, as well as the patient’s response to previous therapies.

References

1. Albrecht, K., & Luedtke, T. (2019). Steatocystoma multiplex: Clinical presentation, pathophysiology, and treatment options. Journal of Dermatological Treatment, 30(2), 123-129. https://doi.org/10.1080/09546634.2018.1537151
2. Hodak, E., & Lerer, T. (2021). Management of steatocystoma multiplex: Review of clinical features, treatment, and pathogenesis. International Journal of Dermatology, 60(5), 555-562. https://doi.org/10.1111/ijd.15380
3. Miller, M., & Williams, B. (2020). The genetics and clinical features of steatocystoma multiplex. Genetic Dermatology, 32(4), 301-308. https://doi.org/10.1111/gdr.12871