Review of the current literature on H syndrome treatment

Anaraki, Kimia Saleh; Khosravi, Sepehr; Behrangi, Elham; Sadeghzadeh‐Bazargan, Afsaneh; Goodarzi, Azadeh

doi:10.4103/jfmpc.jfmpc_1435_21

Cited by 7 publications

(3 citation statements)

References 20 publications

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“…The syndrome starts to manifest during the first decade of life, as in our patient, with sensorineural hearing loss, delayed growth, and/or cardiac anomalies [8]. Later on, during the first to second decades of life, hyperpigmented sclerodermatous changes start to appear, mainly covering the middle and lower body parts [1,2,7].…”

Section: Discussionmentioning

confidence: 56%

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option

Al-Haddab,

Al Muqarrab,

Alhumidi

et al. 2024

Am J Case Rep

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Congenital defects/diseases Background:H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. Case Report:A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. Conclusions:Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

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Section: Discussionmentioning

confidence: 56%

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option

Al-Haddab,

Al Muqarrab,

Alhumidi

et al. 2024

Am J Case Rep

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“…According to recent reports, mycophenolate mofetil or tocilizumab medication may affect the course of the illness, leading to improvements in scleroderma-like skin lesions, arthritis, sensorineural deafness, and growth. The fact that these symptoms are affected by immunomodulatory medications is in line with their immune pathogenesis [5][6][7]. Anti-inflammatory medications, however, are frequently initiated many years after the onset of symptoms due to poor awareness of their rheumatological pertinence, making it challenging to assess their true efficacy in preventing illness-related organ damage.…”

Section: Introductionmentioning

confidence: 99%

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

Tesser,

Valencic,

Boz

et al. 2024

Pediatr Rheumatol

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Background H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes. The condition also features cardiac and endocrine defects, as well as hearing loss, for which the immune pathogenesis appears less clear. Immunomodulatory medications have been shown to improve many symptoms in recent experiences. Case presentation A 21-year-old girl was referred to our institute after being diagnosed with H syndrome. Her medical history was characterized by the development of finger and toe deformities, which developed since the first years of life and progressively worsened with clinodactyly. At 6 years of age, she was diagnosed with diabetes mellitus without typical autoantibodies and with bilateral sensorineural hearing loss. She also complained of frequent episodes of lymphadenopathy, sometimes with colliquation and growth retardation due to pancreatic insufficiency. It wasn’t until the genetic diagnosis of H syndrome that the continual increase in acute phase reactants was noticed, suggesting that an immunological pathogenesis may be the source of her problems. During her visit to our institute, she reported serious pain in both feet and hands and difficulty walking due to knee arthritis and muscle contractures. Conventional therapy with steroid injection in affected joints and methotrexate only led to partial improvement. After a thorough assessment of her inflammatory profile showing a high interferon score, the girl received treatment with baricitinib. Furthermore, based on recent data showing that SLC29A3 deficiency results in interferon production because of Toll-like Receptor 7 activation in lysosomes, hydroxychloroquine was also added. The combination of the two drugs resulted for the first time in a rapid and persistent normalization of inflammatory markers, paralleled by a dramatic improvement in symptoms. Conclusions We describe the results of inhibiting IFN inflammation in H syndrome and discuss how JAK inhibitors and antimalarials might represent a mechanistically based treatment for this orphan drug disorder.

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“…5 Clinical studies have revealed a range of manifestations, with some patients experiencing joint swelling, recurrent fever, hyperinflammation, and osteopenia. 5,6 Previous research indicates that hENT3 is crucial in facilitating mitochondrial and lysosomal functions, affecting cell proliferation and apoptosis. Elevated acute phase reactant values, similar to hyperinflammatory periodic fever syndrome, can be observed in patients with H syndrome.…”

Section: Introductionmentioning

confidence: 99%

Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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BackgroundThe H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.MethodsA mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.ResultsThe first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.ConclusionOur objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

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Review of the current literature on H syndrome treatment

Cited by 7 publications

References 20 publications

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

Cases with the H syndrome presenting with skin and bone findings

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