C) Hypertrichosis around the distal region of the hyperpigmented plaque Open in a separate window Fig. Coronavirus Disease-2019 (COVID-19) pandemic with tachypnoea, tachycardia, and oliguria. Echocardiography showed dilated cardiomyopathy and severe systolic dysfunction compatible with cardiogenic shock. Additionally, he presented with multiple organ dysfunction syndrome. SARS-CoV-2 polymerase chain reaction (PCR) and antibody detection by chromatographic immunoassay were unfavorable. A previously ordered gene panel for pre-existing sensorineural hearing loss showed a pathological mutation in the SCL29A3 gene compatible with H syndrome. Computed tomography scan revealed extensive alveolar infiltrates in the lungs and multiple poor defined hypodense lesions in liver, spleen, and kidneys; adenopathy; and cardiomegaly with left ventricle subendocardial nodules. Invasive mechanical ventilation, broad antibiotic and antifungal coverage showed no significant response. Therefore, Tocilizumab as compassionate use together with pulsed intravenous methylprednisolone was initiated. Improvement was impressive leading to normalization of inflammation markers, liver and kidney function, and stabilising heart function. Two weeks later, he was discharged SR9011 and has been clinically well since then on two weekly administration of Tocilizumab. Conclusions We report the most severe disease course produced by HS described so far in the literature. Our patients manifestations included uncommon, new complications such as acute heart failure with severe systolic dysfunction, multi-organ cell infiltrate, and digital ischemia. Most of the clinical symptoms of our patient could have been explained by SARS-CoV-2, demonstrating the importance of a detailed differential diagnosis to ensure optimal treatment. Although the mechanism of autoinflammation of HS remains uncertain, the good response of our patient to Tocilizumab makes a case for the important role of IL-6 in this syndrome and for considering Tocilizumab as a first-line treatment, at least in severely affected patients. strong class=”kwd-title” Keywords: H syndrome, Cardiogenic shock, Multiorgan infiltration, Digital ischemia, Paediatric intensive care unit, Interleukin-6, Tocilizumab, CT-scan, Case report Background HS (OMIM #612391) is an autosomal recessive disorder caused by homozygous or SR9011 compound heterozygous mutation in SLC29A3, the gene on chromosome 10q22 that encodes human equilibrative nucleoside transporter-3 (hENT3) [1]. HS was first described in 2008 in 6 consanguineous Arabic families [2]. Since then, around 100 cases have been reported [3C5]. The average age at onset is usually 9.7?years [6]. Previous studies have described other diseases caused by mutations in the SLC29A3 gene, such as pigmented hypertrichosis dermatosis SR9011 with insulin-dependent diabetes syndrome (PHID), Faisalabad histiocytosis, and familial Rosai Dorfman disease, among others. Many patients shared Rabbit polyclonal to PARP14 overlapping signs and symptoms, leading to the suggestion that they should be regarded as the same entity [7C10]. The pathognomonic sign of HS is usually cutaneous hyperpigmentation located mainly in the inner thighs and often accompanied by hypertrichosis and progressive sclerodermatous induration. Other manifestations include histiocytosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss (SNHL), exophthalmos, endocrinopathy such as insulin-dependent diabetes mellitus (IDDM), genital abnormalities, and fixed flexion contractures of proximal interphalangeal joints [2C4, 7, 11]. Histologically, skin lesions show a perivascular dermal and subcutaneous infiltrate, composed mainly of histiocytes and plasma cells later replaced by fibrosis. HS shows a high variability in clinical presentation with a lack of phenotype-genotype correlation even in siblings with identical mutations [3, 7, 12]. We expand the clinical spectrum of HS describing the first patient who presented cardiogenic shock and multiorgan cell infiltrate. Case presentation We report an 8-year-old young man given birth to SR9011 to consanguineous parents of Moroccan origin who was admitted to the intensive care unit because of dyspnoea, fever, and intense abdominal pain during the COVID-19pandemic. His medical history was positive for SNHL, diagnosed at five years of age, and a gene panel had recently been ordered for this reason. A few months previously, he had suffered an episode of Henoch-Sch?nlein purpura; and during a follow-up visit, a linear indurated patch was observed on the left thigh. His 4-year-old sister had been diagnosed with IDDM seven months before. On admission, he showed tachypnoea, tachycardia, and oliguria. Physical exploration showed weak cardiac sounds, gallop rhythms, crackling, hypoventilation, and oedema of scrotum and mons pubis. The skin patch located on the inner left thigh had increased in size and showed thickening, in addition to hypertrichosis and hyperpigmentation (Fig.?1); histologically, the patch exhibited oedema with a lymphohistiocytic infiltrate in subcutaneous and perivascular cell tissue, but with no signs of thrombophlebitis or vasculitis (Fig.?2). Moreover, he developed purpuric lesions of ischemic aetiology in the 2nd and 3rd toes, similar to the lesions described in COVID-19 in children (Fig.?3). The echocardiography detected a dilated cardiomyopathy (left ventricle end- diastolic volume 54?mm Z-score+?2,9), severe systolic dysfunction (30% of left ventricular ejection fraction (LVEF)), mild diastolic dysfunction (fusion of E/A, E/E 16) and elevated pulmonary arterial pressure (tricuspid regurgitation gradient 46?mmHg) confirming cardiogenic shock. Open in a separate window Fig. 1 A) Oedema of pubis and scrotum. B) Linear hyperpigmented and indurated plaque with poorly defined edges on SR9011 the anterior medial aspect of.