SEARCHCASE_REPORTdermatology, pediatrics

case_report·dermatology, pediatrics, gastroenterology, nutrition, clinical nutrition·PMC10191539

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis

JPGN Reports · 4 authors, 3 centres

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TL;DR

The patient's liver enzymes improved on this regimen but worsened when acitretin was started for his skin condition.

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Liver biopsy showed nonalcoholic steatohepatitis with stage 1 fibrosis, and a subsequent FibroScan at age 12 indicated advanced fibrosis with a median liver stiffness score of 16.5 kPa. Initial management with a high MCT/LCT diet, vitamin E, and exercise resulted in improved liver enzyme levels. However, treatment with acitretin for his ichthyosis caused a deterioration in his liver biochemistry, necessitating discontinuation. The report highlights the multisystem nature of the syndrome and the importance of monitoring for drug-induced liver injury with retinoids.

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case_report

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dermatology

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ORIGINAL PAPER

PMC10191539

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis

JPGN Reports

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ABSTRACT

Chanarin-Dorfman syndrome also known as neutral lipid storage disease is a rare multisystemic autosomal recessive disorder. It is mostly encountered in patients of Mediterranean and Middle Eastern origin. Most patients are brought to medical attention secondary to dermatological manifestations namely ichthyosis. Here, we report a 10-year-old Kurdish male patient with ichthyosis, who was referred to pediatric liver clinic for transaminase elevation of unknown etiology despite elaborate workup. Histological findings on liver biopsy were consistent with nonalcoholic steatohepatitis. Genetic testing identified homozygous mutation C.776G>A (p.G259D) in the Abhydrolase domain containing 5 gene on chromosome 3 described in patients with Chanarin-Dorfman syndrome. After the initiation of a diet with high medium chain triglycerides/long chain triglycerides ratio, aerobic exercise, and vitamin E, the patient liver enzymes improved. Due to debilitating ichthyosis, he was started on acitretin therapy that was discontinued due to transaminases elevation. Patient is currently stable and doing well.

CITATION EXPORT

Nawras Habash, Yaohong Wang, Eva Morava et al.. An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis. JPGN Reports. (2021). https://doi.org/10.1097/PG9.0000000000000137

AUTHORS

4 · 3 CENTRES

Nawras Habash, Yaohong Wang, Eva Morava, Samar H. Ibrahim

From the *Division of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN
†Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Rochester, MN
‡Department of Clinical Genomics, Rochester, MN.