H syndrome

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H syndrome
Other names	Histiocytosis-lymphadenopathy plus syndrome
This condition is inherited in an autosomal recessive manner

H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID,^[1] is a rare genetic condition caused by mutations in the SLC29A3 gene which encode the human equilibrative nucleoside transporter (hENT3) protein.^[2]

It is also known as Faisalabad histiocytosis, familial Rosai-Dorfman disease, sinus histiocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. ^[3]

Presentation

This syndrome has a number of different clinical features many of which start with the letter 'H' giving rise to the name of the syndrome. These features include^{[citation needed]}

• Hyperpigmentation
• Hypertrichosis
• Hepatosplenomegaly
• Hearing loss
• Heart anomalies
• Hypogonadism
• Low height (short stature)
• diabetes mellitus
• Hallux valgus
  /flexion contractures

Exophthalmos, malabsorption and renal anomalies have also been reported.^{[citation needed]}

Genetics

The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).^{[citation needed]}The causative gene was identified in 2010.^[4]

Pathogenesis

This is not understood at present.^{[citation needed]}

Management

There is no curative treatment for this condition at present. Management is directed to the clinical features.^{[citation needed]}

History

This condition was first described in 1998.^[5]

References