H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

Lequain, Hippolyte; Gerfaud‐Valentin, Mathieu; Émile, Jean-François; Gangloff, Yann-Gaël; Boursier, Guilaine; Deligny, C.; Guenno, G. Le; Tantot, Juliet; Valantin, Julie; Savey, Léa; Bachmeyer, Claude; Jamilloux, Yvan; Schaeffer, Laurent; Leblanc, Pascal; Sève, P.

doi:10.3324/haematol.2022.282040

Cited by 4 publications

(4 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By examining the BRAF gene in these patients, those with this mutation had more cardiac and CNS involvement 4,13 . Our patient had SLC29A3 mutation, which was previously seen in histiocyte‐lymphadenopathy plus syndrome, including Faisalabad histiocytosis, H‐syndrome, pigmented hypertrichotic dermatosis and insulin‐dependent diabetes and in a recent study that examined four cases, SLC29A3 was introduced as an inherited monogenic mutation associated with atypical ECD‐like hystiocytosis 14,15 . ECD patients' pathology shows bland xantho‐granulomatous inflammation with different degrees of fibrosis and foamy, lipid‐laden histiocytes 16 .…”

Section: Discussionmentioning

confidence: 63%

“… 4 , 13 Our patient had SLC29A3 mutation, which was previously seen in histiocyte‐lymphadenopathy plus syndrome, including Faisalabad histiocytosis, H‐syndrome, pigmented hypertrichotic dermatosis and insulin‐dependent diabetes and in a recent study that examined four cases, SLC29A3 was introduced as an inherited monogenic mutation associated with atypical ECD‐like hystiocytosis. 14 , 15 ECD patients' pathology shows bland xantho‐granulomatous inflammation with different degrees of fibrosis and foamy, lipid‐laden histiocytes. 16 Cardiac MRI of the patients shows soft tissue mass density appearing Hypo‐intense in the balanced steady‐state free precession (B‐SSFP) and T2W sequences.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Cardiac mass as the primary diagnostic clue of Edheim–Chester disease

Alizadehasl,

Salehi,

Soltani

et al. 2024

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageWe introduced one of the rare causes of intra‐cardiac mass, that is, ECD and a new gene mutation (SLC29A3) that is probably related to this disease, and we noted the importance of using several diagnostic methods to rule out other intra‐cardiac causes.AbstractEdheim–Chester disease is a rare histiocytosis affecting multiple organs. The infiltration of lipid‐laden histiocytes characterizes the disease. Most patients experience bone involvement; over 50% of cases involve the cardiovascular system and other extra‐osseous organs. In this case report, we present the case of a 42‐year‐old man who complained of shortness of breath and bone pain. During echocardiography, a large, homogenous, and fixed mass was found in the right atrium free wall. Computed tomography and cardiac magnetic resonance imaging revealed an infiltrative mass in the RA with atrioventricular groove involvement but coronary sinus encasement, right coronary artery, and superior vena cava encasement. Abdominal CT scans also reported aortic wall involvement and bilateral renal cortical and perirenal involvement. A kidney biopsy confirmed the infiltration of histiocytes and the diagnosis of ECD. The treatment was initiated for him, and his symptoms improved. In this case report, we express the importance of considering the rare causes of cardiac tumors.

show abstract

Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Cardiac mass as the primary diagnostic clue of Edheim–Chester disease

Alizadehasl,

Salehi,

Soltani

et al. 2024

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…10 Lequain et al reported a 42-year-old female who presented with spinal cord compression secondary to an epidural infiltrate, who was found to have homozygous SLC29A3 gene mutations. 11 To our knowledge, this is the first adolescent patient with this condition reported to have intradural lymphoproliferation leading to spinal cord compression as his initial presentation. However, previous reports of pediatric patients with IHP have not included next-generation sequencing for primary immunodeficiencies/immune-dysregulation disorders in their evaluation.…”

Section: E T T E R T O T H E E D I T O R Hypertrophic Pachymeningitis...mentioning

confidence: 75%

“…Tocilizumab, an IL-6 inhibitor, has also been shown in multiple reports to help reduce systemic inflammation with improvement of symptoms in these patients and should be a consideration if he were to have another recurrence. [11][12][13][14] Coopera-tive guidelines and institutional experiences and further research are needed to advance treatment of this rare disorder.…”

Section: E T T E R T O T H E E D I T O R Hypertrophic Pachymeningitis...mentioning

confidence: 99%

Hypertrophic pachymeningitis as an unusual presentation of a patient with SLC29A3 spectrum disorder: Considering the use of next‐generation sequencing

Clingo,

Bustamante,

Carcamo

et al. 2024

Pediatric Blood & Cancer

View full text Add to dashboard Cite

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib

Banks,

Abeykoon,

Rech

et al. 2024

Neurol Genet

View full text Add to dashboard Cite

ObjectivesPathogenic SLC29A3 variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of SLC29A3 variants and describe potential treatment. MethodsWe describe a case of newly diagnosed SLC29A3-related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression. ResultsWe present a 25-year-old man with recurrent dural based masses resulting in spinal cord and brain compression, hyperpigmented skin patches, proptosis, short stature, and elevated serum and spinal fluid inflammatory markers. Panel genetic testing revealed homozygous pathogenic variant c.1309G>A in the SLC29A3 gene resulting in a missense alteration (p. Gly437Arg). The patient was treated with cobimetinib with clinical, serologic, and radiographic improvement at 1-month follow-up. DiscussionSLC29A3 variant may cause fibroinflammatory lesions involving the dura resembling the clinical spectrum of Rosai-Dorfman disease. Patients with SLC29A3 disease and neurologic signs or symptoms should undergo screening MRI for CNS involvement. MEK inhibition represents a novel treatment for this disorder.

show abstract

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

Abstract: Not available.

Cited by 4 publications

References 16 publications

Cardiac mass as the primary diagnostic clue of Edheim–Chester disease

Cardiac mass as the primary diagnostic clue of Edheim–Chester disease

Hypertrophic pachymeningitis as an unusual presentation of a patient with SLC29A3 spectrum disorder: Considering the use of next‐generation sequencing

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib

Contact Info

Product

Resources

About