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Case Reports

Abstract

We present a 14-year-old girl with a history of medium-chain-acyl-coenzyme-A dehydrogenase deficiency (MCADD) who developed numerous subcutaneous nodules with a yellow hue on her back. The excised lesion revealed a hamartomatous proliferation of lipocytes within the superficial dermis, with preserved hair follicle density and morphology. Various initial differential diagnoses including connective tissue nevi such as collagenoma or elastoma, lipoma, and Gardner-type fibroma were considered. Histological examination showed normal collagen and elastin morphology, confirmed by special stains. Gardner-type fibroma was ruled out based on morphology and negative Beta-catenin expression. The presence of a superficial hamartomatous growth with preservation of skin adnexa did not support a lipoma diagnosis. Histologically, the findings resembled those seen in the Hoffman-Zurhelle form of nevus lipomatosus superficialis (NLS). The exact pathophysiology of NLS remains unclear; however, some postulate that fat deposition in the dermis may result from degenerative changes within connective tissue or develop from perivascular lipoblasts that proliferate into mature adipocytes. While patients with MCADD may exhibit fatty infiltration in organs like the heart, liver, and kidneys, specific skin manifestations have not been reported. The clinical morphology and histology observed in this case are not entirely typical of NLS. Generally, NLS exhibits mature adipocytes in the dermis without a definitive connection to subcutaneous tissue. The biopsy of this patient revealed an increase in lipocytes concentrated around the hair skin adnexa, aligning with the clinical presentation. Such morphology can pose a challenge, especially in a patient with complex syndromes, as the findings may have unknown clinical significance.