Redundant plantar skin folds

Area of Science:

• Dermatology
• Genetics
• Rheumatology

Background:

• Systemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations.
• Proteus syndrome is a rare mosaic overgrowth disorder characterized by variable somatic abnormalities.
• Adipose tissue dysregulation can occur in various genetic and autoimmune conditions.

Observation:

• A 46-year-old female presented with photosensitivity, arthritis, plantar pain, and skin changes suggestive of lipoatrophy.
• Laboratory findings revealed leukopenia, lymphopenia, thrombocytopenia, and positive antinuclear antibodies, indicative of SLE.
• Dysmorphic features, plantar collagenoma, and early-onset ovarian cystadenoma suggested a diagnosis of minimal Proteus syndrome.

Findings:

• The patient exhibited a complex interplay of autoimmune and hamartomatous features.
• Localized lipoatrophy was a prominent clinical sign, potentially linked to adipose tissue dysregulation in Proteus syndrome.
• Genetic confirmation of Proteus syndrome was not feasible, necessitating clinical diagnosis.

Implications:

• This case underscores the potential for overlapping clinical features between SLE and Proteus syndrome.
• Understanding the links between adipogenesis, inflammation, and dysmorphology is crucial for managing such complex cases.
• Prompt identification and treatment of superimposed inflammation may mitigate further tissue damage in hamartomatous syndromes.