Multiple Symmetrical Scrotal Lipomatosis: Diagnosis and Treatment with Comprehensive Summary of the Entity

Summary:

Multiple symmetrical lipomatosis is a rare diffuse presentation of the progressive accumulation of deposits of nonencapsulated masses of adipose tissue. The characteristic image of this disease is bilateral swelling in the neck, the upper part of upper limb, pelvic rim, back, and thighs. We report a case of unusual localization of benign scrotal symmetrical lipomatosis with ultrasound and histological appearances of the scrotal lipomatous masses, together with treatment. Scrotal lipomatosis should be considered as a rare differential diagnosis of scrotal swelling, and excisional lipectomy should be considered in preference over liposuction. Patients should be offered counseling for infertility.

Multiple symmetrical lipomatosis, also known as Madelung disease (MD), represents a rare diffuse condition characterized by the progressive accumulation of nonencapsulated masses of adipose tissue. MD is most frequently reported in men 30–60 years of age in the European populations with an incidence of 1:250,000 and has shown occurrences in Asia, with prevalence in women and children.^1,2 Variations in sex prevalence could be attributed to differences in hormonal influences, genetic susceptibility, and perhaps lifestyle factors. All these elements affect distribution and metabolism of adipose tissue, including both regular and brown fat.

Etiology is not fully understood, including catecholamine-dependent lipid metabolism defect, mutations in mitochondrial DNA, and primary peripheral neuropathy. One alternative hypothesis of the pathogenesis of MD is a defect of brown adipose tissue.³ The pathology is strongly correlated with obesity, often resulting in peripheral neuropathy, defective lipolysis in response to catecholamines, and a range of metabolic associations such as diabetes, hyperlipidemia, liver disease, hypothyroidism, and polyneuropathy.⁴

MD’s clinical manifestations involve multiple symmetrical lesions on head, neck, shoulders, and upper trunk, imparting a pseudoathletic appearance. In rare instances, preliminary reports describe locations such as the tongue, scrotum, and foot.^5,6 In MD, overgrowth of lipomas can cause compression of the upper respiratory and gastrointestinal tracts, reduced cervical spine mobility, and superior vena cava syndrome. Diagnostic modalities include ultrasonography, CT, or MRI in the presence of life-threatening symptoms. The clinical course typically involves an initial period of rapid adipose mass growth, followed by a plateau or slow progression.

Madelung classified MD anatomically into three types, whereas Constantinidis categorized it clinically into two types.^3,7 Treatment indications primarily address cosmetic concerns, although enlarging fat deposits can lead to aerodigestive symptoms, reduced neck movement, and nerve compression-related tingling sensations.² Malignant degeneration of fatty tissue is rare, making surgical reduction the preferred treatment, with liposuction serving as an alternative in small, well-defined cases.⁷

CASE REPORT

In 2013, a 42-year-old male patient, BMI of 25.3 kg/m² (180 cm, 82 kg), of European origin, presented with large disfiguring masses around neck, chin, and scrotum (Fig. 1). Experiencing painful progressive scrotal overgrowth and changes in the chin and neck areas, as self-detected suddenly at late puberty, with further slow progression, the patient reported mobility dysfunction, gradually decreased libido, impaired potency, and micturition disorders since his late 20s. There was no history of alcohol addiction and no other evident triggers.

Fig. 1.

Patient with multiple symmetrical scrotal lipomatosis—preoperative lithotomy position.

Physical examination revealed significant subcutaneous tissue hypertrophy in various areas, including the chin, neck, occiput, cheeks, pubic region, and scrotum. A detailed scrotal examination identified symmetrical, compact, and hard palpable scrotal hypertrophy, with no evident peristaltic sounds on auscultation. Hair growth was diminished and voice was markedly disrupted, with hoarseness and breathier voice.

Ultrasound scans revealed abnormally positioned and distorted testes, with the right testis (30.5 × 16.1 mm) found in the inguinal canal, together with the left exhibiting intestinal loops in the upper part of the scrotum. The giant scrotum contained solid, hyperechogenic masses, likely of adipose nature. Laboratory findings indicated elevated levels of total cholesterol (281 mg/dL) and triglycerides (755 mg/dL), with no notable family history.

The surgery, conducted under general endotracheal anesthesia in the lithotomy position, involved accessing the scrotal skin across the raphe (Fig. 2). The scrotal fascia was opened, and approximately 800 g of ill-defined, nonencapsulated adipose lobular deposits were removed downwardly from the penis line. There was a small amount of serous fluid oozing from the wound at the time of surgery. The right testis was identified and preserved, the left testis was preserved, and the hernia was managed surgically. Subfascial suction drains were placed on both sides of the scrotal septum posthemostasis, and the skin was sutured in layers.

Fig. 2.

Surgical treatment of the multiple symmetrical scrotal lipomatosis; operative technique: deposits of nonencapsulated adipose tissue removed using midline scrotal skin incision.

Postoperatively, a marked decrease in scrotal volume was observed (Fig. 3). However, the course was complicated by bleeding, requiring transfusion of two units of packed red blood cells and two units of plasma. Suction drains were removed on the seventh day postoperation, and the patient was discharged on day 14. Histological examination of the tissue showed nonencapsulated benign fatty tissue, with mature adipose tissue, fat necrosis, and lobular fibrosis present (Fig. 4). These changes did not indicate invasiveness, aligning with an intermediate form between lipoma and liposarcoma. Surgery resulted in complete resolution of mobility impairment. Libido was unchanged 6 months postoperatively.

Fig. 3.

Postoperative appearance of the scrotal area in the patient with multiple symmetrical scrotal lipomatosis.

Fig. 4.

Histological picture of the specimen resected during ablative surgery for the multiple symmetrical scrotal lipomatosis; mature adipose tissue; magnification 400×.

DISCUSSION

MD is not typically associated with intraabdominal or visceral fat accumulation. Scrotal fat may not be related to herniation, instead occurring as a de novo fat deposit. Scrotal fat may be associated with testicular atrophy due to the extensive fat deposition. Scrotal involvement in symmetrical lipomatosis is rare, with fatty tumors representing the most common extratesticular lesions in the scrotal location. Scrotal lipomatosis is classified by Leuson into intra- and extrasheath, diffuse, and lobular types.^8,9 In our case, the scrotal MD presented as the diffuse type, occurring with equal frequency in patients with and without obesity. Excisional surgery was preferred for radical treatment and to prevent recurrence. The lipomas adhered to the spermatic cord vessels. Scrotal lipomatosis, apart from causing scrotal swelling, may present with infertility, as observed in our patient with atrophic testes. It is postulated but unsubstantiated that testicular temperature dysregulation is the cause of infertility. Postoperatively, potential postural changes due to extensive diffuse adipose masses should be addressed with rehabilitation.¹⁰ In our case, the patient experienced back pain and scoliosis, leading to a referral to the rehabilitation clinic.

Infertility in MD may be due to the association with hormonal imbalances or metabolic disturbances, which can affect reproductive health. Additionally, the extensive fat deposition characteristic of the disease may play a role in altering reproductive organ function or hormone regulation.^2,4

CONCLUSIONS

Scrotal lipomatosis, an unusual manifestation of MD, is considered a rare differential diagnosis in cases of scrotal swelling. Excisional lipectomy is recommended to prevent recurrence. Patients should be offered counseling for potential infertility. As scrotal lipomatosis presents challenges in terms of diagnosis, treatment, and postoperative care, additional clinical reports are crucial for a comprehensive understanding and the development of effective management strategies.

DISCLOSURE

The authors have no financial interest to declare in relation to the content of this article.

PATIENT CONSENT

Patients provided written consent for the use of their images.