Harlequin Fetus With Abnormal Lamellar Granules And Giant Mitochondria

The study examined a case of harlequin ichthyosis using electron microscopy, revealing that keratinocytes from the basal cell to granular cell layers contained giant mitochondria with vesicular cristae. Typical lamellar granules were absent, replaced by dense cored granules (DCG) and particles containing cored granules (PGG), which mostly failed to be released from the cytoplasm. These retained granules formed large vacuoles and cavities in the stratum corneum. In the hair follicle, keratinized cells did not desquamate properly, forming concentric keratin rings around the hair, a diagnostic feature of the disease. The study suggested that abnormal lamellar granules contributed to the disease's pathogenesis and that giant mitochondria might be linked to abnormal lipid metabolism in keratinocytes.