J Rheum Dis.  2023 Apr;30(2):133-137. 10.4078/jrd.22.0054.

The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report

• Alansari S
• Alsaleem A
• Alzaid T
• Galal M
• Alyahya N
• Al-Mayouf SM

• KMID: 2541057
• DOI: http://doi.org/10.4078/jrd.22.0054

Abstract

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.

Keyword

H syndrome; Systemic juvenile arthritis; Hyperferritinemia; Autoinflammatory; SLC29A3 gene

Figure

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  Fig. 1 Pedigree of a consanguineous family of patient with homozygous SLC29A3 variant. Affected subject (solid symbol). DM: diabetes mellitus.

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  Fig. 2 Erythematous maculopapular skin rash over the lower extremities.

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  Fig. 3 Hematoxylin and eosin stained section showing dermal perivascular and interstitial neutrophilic infiltrate. There are neutrophils in the epidermis (white arrow) and rare dyskeratotic cells (dark arrow). Perieccrine and eccrine glands neutrophilic infiltrate is present (inset).

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