Clinicians identified an association between Wolman disease, a type of lysosomal acid lipase deficiency (LAL-D), and metastatic Crohn’s disease (MCD), as published in the Journal of The American Academy of Dermatology Case Reports.

A 39-month-old female was diagnosed with Wolman disease at the age of 4 months. She presented with hepatosplenomegaly, adrenal calcification, and severe failure to thrive. Genetic testing showed the homozygous variant c.260G>T of the LIPA gene.

The diagnosis of Wolman disease was further confirmed by the analysis of lipase A activity, which was below the reference level (<8.0 limit of detection, reference ≥32.5 mol/L/h). Additionally, the patient presented with swelling of the labia majora for 2 months.


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Physical examination showed marked erythema and edema of the labia majora. She also had multiple erythematous and macerated fissures near the anal orifice. Further analysis revealed epidermal hyperplasia and diffuse, noncaseating granulomatous dermatitis. Altogether, clinical and histopathologic examinations suggested MCD.

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The patient’s fecal calprotectin levels were increased and gastrointestinal (GI) endoscopy identified multiple alterations, including esophageal intraepithelial lymphocytosis, chronic inactive, gastritis, and duodenal and colonic superficial aphthous ulcers.

“A histologic examination of the colonic biopsies showed expansion of the lamina propria with foamy histiocytes and xanthoma cells, consistent with Wolman disease, with no evidence of the noncaseating granuloma that is characteristic of GI [Crohn’s disease],” the clinicians said.

The patient showed mild improvement upon treatment with a topical combination of miconazole and hydrocortisone ointment, followed by a 0.1% topical tacrolimus ointment. However, she died a few months later due to cardiopulmonary arrest secondary to multiorgan failure.

“MCD is likely underdiagnosed given its variable clinical manifestations, and, therefore, its exact prevalence in pediatric patients is unknown,” the authors said. “A thorough history, skin examination, and biopsy are crucial for a definitive diagnosis and to avoid a delay in treatment and substantial morbidity.”

Reference

AlAsmari A, AlEssa R, AlAjroush W, AlKhodair R, AlHaddad S. Novel association of metastatic Crohn’s disease and Wolman disease. JAAD Case Reports. 2022;20:40-43. doi:10.1016/j.jdcr.2021.12.014