H syndrome - A case report

Abstract

This case report describes a case of H syndrome with characteristic cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystem involvement such as hearing loss and heart anomaly in an Indian patient. There are around 100 cases of this rare, autosomal recessive genodermatosis reported in the literature, out of which 10 cases are from the Indian population. The aim of this paper is to increase awareness about this novel inherited form of histiocytosis and insist on the role of dermatologists to identify such patients in our population where consanguinity is prevalent.

H syndrome with low bone mineral density associated with hypovitaminosis D and low insulin-like growth factor 1

“…H syndrome is a rare autosomal recessive syndrome affecting multiple organ systems with pathognomonic skin findings. 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 Here we report on 3 Iraqi patients with characteristic clinical, histopathologic, and laboratory findings of H syndrome. All 3 patients have hyperpigmented indurated patches with overlying hypertrichosis symmetrically involving the lower half of the body associated with other features of H syndrome ( Table I ).…”

“…H syndrome is a rare autosomal recessive disorder that occurs because of mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter, which is a protein located in endosomes, lysosomes, and mitochondria. 1 , 2 , 3 , 4 , 5 It was first named by Molho-Pessach et al in 2008. 1 To date, fewer than 120 cases of this rare disease have been reported worldwide.…”

“… 1 To date, fewer than 120 cases of this rare disease have been reported worldwide. 5 It is characterized by the presence of hyperpigmented indurated patches with overlying hypertrichosis symmetrically involving the inner aspects of the thighs, which may extend to the posterior aspects of the lower limbs, abdomen, and back, while sparing the knees and buttocks. Other important features of H syndrome include sensorineural hearing loss, hyperglycemia/insulin-dependent diabetes mellitus, heart anomalies, hypogonadism, low height (short stature), and hepatosplenomegaly.…”

“…Other important features of H syndrome include sensorineural hearing loss, hyperglycemia/insulin-dependent diabetes mellitus, heart anomalies, hypogonadism, low height (short stature), and hepatosplenomegaly. 1 , 2 , 3 , 4 , 5 , 6 Currently, many investigators consider H syndrome as a novel form of histiocytosis. 4 , 7 …”

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from Syria

“…The cutaneous characteristics of hyperpigmentation, hypertrichosis, and induration de ne H syndrome. Hearing loss, heart abnormalities, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), short stature, hallux valgus ( exion contractures), and hematological abnormalities are some of the speci c systemic signs linked [4]. The rst or second decade of life is when H syndrome often manifests [1].…”