Congenital Ichthyosis and Spastic Diplegia: Sjögren–Larsson syndrome

A 38-year-old man presented with generalized xerosis with fine scaling, accentuated on the neck, trunk, and extremities for more than two decades [Figure 1a]. Dermatologic examination revealed hyperlinear skin markings in the cubital and popliteal fossae [Figure 1b]. Additional clinical features included dysphonia, spastic diplegia, and a scissor gait. Fundoscopy demonstrated bilateral retinal glistening white dots [Figure 1c]. Skin biopsy demonstrated orthokeratosis and acanthosis with a preserved granular layer. Brain magnetic resonance imaging revealed subtle T2-FLAIR hyperintensity in the left periventricular region, and a lipid peak at 1.3 ppm was detected on magnetic resonance spectroscopy. A clinical diagnosis of Sjögren–Larsson syndrome (SLS) was confirmed through genetic analysis, which identified a novel compound heterozygous mutation in the ALDH3A2 gene [Figure 1d].Figure 1: (a) Prominent hyperkeratosis with hyperlinearity on the patient’s abdomen; (b) hyperlinear skin with fine scales, accentuated on the patient’s cubital fossae; (c) glistening white dots in fovea region, both eyes; (d) Sanger sequencing chromatogram of proband. Compound heterozygous mutation of c.1157A>G and c.325G>A in ALDH3A2 was identified in our patientSLS is a rare autosomal recessive neurocutaneous disorder caused by mutations in ALDH3A2, leading to fatty aldehyde dehydrogenase deficiency. The enzyme deficiency results in the accumulation of long-chain fatty aldehydes and alcohols in skin and central nervous system, clinically manifesting as a triad of congenital ichthyosis, spasticity, and intellectual disability.[1] The cutaneous lesions were conservatively treated with topical emollients, and the patient was regularly followed up in the neurology department. Authors’ contributions We confirm that all authors have read and approved the manuscript for submission. All authors meet authorship criteria, and the manuscript represents honest work. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Use of artificial intelligence (AI) The preparation of this manuscript was carried out entirely by the authors without the use of artificial intelligence technologies.