Lipodystrophia centrifugalis abdominalis in Korea

Area of Science:

• Dermatology
• Rare Genetic Disorders
• Pediatric Endocrinology

Background:

• Lipodystrophia centrifugalis abdominalis infantilis (LCAI) is a rare disorder primarily observed in Asian populations.
• Previous literature suggested an earlier age of onset, leading to the alternative term 'lipodystrophia centrifugalis abdominalis juvenilis'.

Purpose of the Study:

• To evaluate clinical and histopathologic characteristics of LCAI in Korean patients.
• To investigate the age of onset and sex predilection in this cohort.
• To assess treatment responses in affected individuals.

Main Methods:

• Retrospective analysis of 30 Korean patients diagnosed with LCAI (clinically and/or histopathologically).
• Evaluation of patient demographics, age of onset, affected body sites, and treatment outcomes.
• Histopathologic examination of subcutaneous tissue for characteristic fat loss and inflammatory infiltrates.

Main Results:

• The study identified a significant female predilection (fourfold) and a mean age of onset of 6.2 years.
• Onset occurred later in females, with 50% presenting after age 5 and 12.5% after age 18.
• Lower abdomen and groin were the primary sites of onset and main involvement; only one patient showed treatment response to photochemotherapy.

Conclusions:

• Korean patients with LCAI exhibit a notable female predominance and a later age of onset than previously documented.
• The findings support the need for further investigation into the pathogenesis and potential therapeutic strategies for LCAI.
• The term 'lipodystrophia centrifugalis abdominalis juvenilis' may be more fitting given the observed later onset patterns.