Case report of H-syndrome with a review from a rheumatological perspective

Abstract

A woman in her 20s, symptomatic since the age of 4 with short stature, hearing loss, skin hyperpigmentation and induration over the medial aspect of the thigh, hypertrichosis, histiocytes on biopsy, lymphadenopathy, dilated scleral vessels, pancreatic exocrine deficiency, pericardial thickening, swelling of the eyelids and resistant retroperitoneal fibrosis. Whole-genome sequencing showed a mutation in SLC29A3, confirming ‘H’-syndrome. She is on steroids and methotrexate. This case highlights the rheumatological mimics of this rare disorder.

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

“…Infrequently reported, our patient developed hypothyroidism early in her life, which was similarly reported previously [12]. As in our patient, joint pain combined with an elevated erythrocyte sedimentation rate level and positive antinuclear antibody might confuse the diagnosis [2]. However, these findings were not enough to fulfil the clinical and immunologic criteria proposed for the diagnosis of systemic lupus erythematosus [13].…”

“…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]. Interestingly, although our patient's upper body parts, including the arms and chest, were uniquely involved, the pattern of the disease spread starting from the inner thighs and spreading upward was noticed in our case, as described earlier by El-Khateeb [9].…”

“…Hyperpigmented sclerotic skin changes of the inner thighs associated with hypertrichosis are pathognomonic of the disease and are considered the most common feature that characterize the syndrome [3,4]. Apart from its cutaneous sclerotic changes, its clinical mimickers are either in the spectrum of histiocytoses, such as Rosai Dorfman and Erdheim Chester disease [5], or what is importantly described in our case, in the spectrum of rheumatologic/immune-inflammatory disorders [2]. Previous reports, including of monozygotic twins, failed to identify a genotype-phenotype correlation for the disease spectrum, suggesting environmental modifiers being a likely explanation [6,7].…”

“…Since its description in 2008 [1], H syndrome has been increasingly reported in the literature. To date, more than 134 cases have been described, mainly of patients from Arab descent [2]. It is an autosomal recessive disorder of histiocytic proliferation with a clinical spectrum of unique cutaneous and systemic manifestations.…”