An unusual presentation of Madelung's disease in a Hispanic 49-year-old male with pruritus

A 49-year-old Hispanic male presented with a 3-month history of mildly pruritic, bilateral nodules on the suboccipital neck. Examination revealed bilateral suboccipital nodules measuring 3 × 5 cm, alongside additional bilateral nodules in the preauricular and submandibular regions, as well as in the central submental and substernal areas, each approximately 2 × 3 cm. Laboratory tests indicated hypercholesterolemia and elevated transaminases, suggestive of alcoholic hepatitis. Fine-needle aspiration (FNA) cytology of the substernal and suboccipital masses revealed fibrous adipose tissue and spindle cell proliferation, and magnetic resonance imaging confirmed adipose-like density tumors. The diagnosis of Madelung's disease (also known as multiple symmetric lipomatosis, MSL) was established based on nodular distribution, laboratory findings, cytology, and imaging results. This rare disorder is characterized by non-encapsulated symmetric lipomas and is commonly associated with alcohol use disorder and metabolic abnormalities. This case is notable for its atypical presentation in a Hispanic male, as MSL typically affects Mediterranean or European populations, and the presence of pruritus, which has not been previously reported. Topical hydrocortisone was prescribed, resulting in pruritis improvement. The patient was counseled on alcohol cessation and offered surgical removal of the masses; however, he declined surgery. Providers should remain vigilant for MSL in patients with bilateral lipomas and a history of alcohol use disorder or metabolic abnormalities. A comprehensive workup should include FNA to exclude malignancy and imaging to assess for compression of underlying structures. Treatment should involve counseling on alcohol cessation, consideration of surgery, and topical hydrocortisone may be considered to manage pruritus. • MSL can occur in patients of Mexican descent, outside of typical populations. • Atypical symptoms like pruritus can occur in MSL patients and require evaluation. • Topical hydrocortisone may alleviate pruritus in patients with pruritic MSL lipomas. • Surgery should be offered for MSL but the high risk of recurrence must be discussed. • Consider MSL in patients with symmetric lipomas and alcohol or metabolic disorders.

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Journal
Otolaryngology Case Reports
Published
2024-12-31
DOI
https://doi.org/10.1016/j.xocr.2024.100649
Primary Topic
Body Contouring and Surgery
Type
article
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article

An unusual presentation of Madelung's disease in a Hispanic 49-year-old male with pruritus

Travis Shiba, Nicole Johnsen, Pranati Pillutla, Qiang Zhang et al.
Otolaryngology Case Reports
Body Contouring and Surgery
article

An unusual presentation of Madelung's disease in a Hispanic 49-year-old male with pruritus

Travis Shiba, Nicole Johnsen, Pranati Pillutla, Qiang Zhang, Shannon Nesbit
article en

Abstract

A 49-year-old Hispanic male presented with a 3-month history of mildly pruritic, bilateral nodules on the suboccipital neck. Examination revealed bilateral suboccipital nodules measuring 3 × 5 cm, alongside additional bilateral nodules in the preauricular and submandibular regions, as well as in the central submental and substernal areas, each approximately 2 × 3 cm. Laboratory tests indicated hypercholesterolemia and elevated transaminases, suggestive of alcoholic hepatitis. Fine-needle aspiration (FNA) cytology of the substernal and suboccipital masses revealed fibrous adipose tissue and spindle cell proliferation, and magnetic resonance imaging confirmed adipose-like density tumors. The diagnosis of Madelung's disease (also known as multiple symmetric lipomatosis, MSL) was established based on nodular distribution, laboratory findings, cytology, and imaging results. This rare disorder is characterized by non-encapsulated symmetric lipomas and is commonly associated with alcohol use disorder and metabolic abnormalities. This case is notable for its atypical presentation in a Hispanic male, as MSL typically affects Mediterranean or European populations, and the presence of pruritus, which has not been previously reported. Topical hydrocortisone was prescribed, resulting in pruritis improvement. The patient was counseled on alcohol cessation and offered surgical removal of the masses; however, he declined surgery. Providers should remain vigilant for MSL in patients with bilateral lipomas and a history of alcohol use disorder or metabolic abnormalities. A comprehensive workup should include FNA to exclude malignancy and imaging to assess for compression of underlying structures. Treatment should involve counseling on alcohol cessation, consideration of surgery, and topical hydrocortisone may be considered to manage pruritus. • MSL can occur in patients of Mexican descent, outside of typical populations. • Atypical symptoms like pruritus can occur in MSL patients and require evaluation. • Topical hydrocortisone may alleviate pruritus in patients with pruritic MSL lipomas. • Surgery should be offered for MSL but the high risk of recurrence must be discussed. • Consider MSL in patients with symmetric lipomas and alcohol or metabolic disorders.

Otolaryngology Case ReportsVol. 34
University of California, Los Angeles (US), Olive View-UCLA Medical Center (US)
Gender equality
Openalex Percentile: Top 55%
Body Contouring and Surgery
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