H syndrome

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]

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

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

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 sydrome. These features include

Exophthalmos, malabsorption and renal anomalies have also been reported.

Genetics

The SLC29A3 gene is located on the long arm of chromosome 10 (10q22).

The causative gene was identified in 2010.[3]

Pathogenesis

This is not understood at present.

Management

There is no curative treatment for this condition at present. Management is directed to the clinical features.

History

This condition was first described in 1998.[4]

References
  1. Virginia P. Sybert (2017). Genetic Skin Disorders. Oxford University Press. pp. 182–. ISBN 978-0-19-027648-5.
  2. Moynihan L M, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham, AF, Lench NJ (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 62: 1123-1128
  3. Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MPG, Devilee P, and 10 others. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 6: e1000833
  4. Moynihan L M, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham, AF, Lench NJ (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 62: 1123-1128
Classification
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