Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage
Sjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia. It occurs due to the defect in the gene responsible for encoding the enzyme fatty aldehyde dehydrogenase. Accumulating thes...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_116_24 |
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| Summary: | Sjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia. It occurs due to the defect in the gene responsible for encoding the enzyme fatty aldehyde dehydrogenase. Accumulating these abnormal aldehyde lipids in the skin and brain leads to clinical symptoms. This case report presents three siblings, born of a nonconsanguineous marriage, with a unique and rare manifestation of SLS. The siblings, aged 7, 5, and 3 years, respectively, exhibited pruritic dry, scaly rashes since infancy, along with abnormal gait and mental retardation. Genetic examination confirmed a homozygous mutation of the ALDH3A2 gene, leading to the diagnosis of SLS. Treatment involving capsule acitretin and a multidisciplinary approach resulted in a significant reduction in dryness and scaling. The case underscores the importance of early SLS diagnosis to mitigate morbidity and improve the quality of life for affected individuals. |
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| ISSN: | 2319-7250 2319-7269 |