H syndrome (OMIM 612391) is a recently described autosomal-recessive genodermatosis with systemic manifestations.
The disease is characterized by the major clinical findings of progressive cutaneous
hyperpigmentation and hypertrichosis located mainly over the lower limbs and lower abdomen, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height and hyperglycemia/diabetes mellitus [
1
,
2
]. The major histopathological findings include dermal infiltrate consisting mainly
of histiocytes, later replaced by dermal and subcutaneous fibrosis [
[3]
]. Recently, we [
[2]
] and others [
[4]
] found that missense, nonsense, compound and deletion mutations in the SLC29A3 gene are responsible for this unique clinical picture. The SLC29A3 gene encodes the human equilibrative nucleoside transporter (hENT3), which mediates
passive sodium-independent transport of nucleosides [
[5]
]. The exact cellular localization of hENT3, endosomal/lysosomal [
[6]
] or mitochondrial [
[7]
], and its function with relation to the H syndrome is still unclear.Abbreviations:
CRP (C-reactive protein), CT (computed tomography), ENT (equilibrative nucleoside transporters), ESR (erythrocyte sedimentation rate), US (ultrasound)Keywords
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References
- The H syndrome: a new genodermatosis characterized by indurated, hyperpigmented and hypertrichotic skin with systemic manifestations.J Am Acad Dermatol. 2008; 59: 79-85
- The H syndrome is caused by mutations in the nucleoside transporter hENT3.Am J Hum Genet. 2008; 83: 529-534
Doviner V, Maly A, Ne’eman, Z, Qawasmi R, Aamar S, Sultan M, et al. Syndrome: recently defined genodermatosis with distinct histologic features. A morphologic, histochemical, immunohistochemical and ultrastructural study of ten cases. Am J Dermatopathol; in press.
- The SLC29A3 gene is mutated in pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome and intersects with the insulin signaling pathway.Hum Mol Genet. 2009; 18: 2257-2265
- The ENT family of eukaryote nucleoside and nucleobase transporters: Recent advances in the investigation of structure/function relationships and the identification of novel isoforms.Mol Membr Biol. 2001; 18: 53-63
- Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.J Biol Chem. 2005; 280: 15880-15887
- Facilitated mitochondrial import of anti-viral and anti-cancer nucleoside drugs by human equilibrative nucleoside transporter-3 (hENT3).Am J Physiol Gastrointest Liver Physiol. 2009; 296: G910-G922
- Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation.J Am Acad Dermatol. 2006; 54: S189-S191
- POEMS in childhood.Pediatr Dermatol. 2006; 23: 145-148
- Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?.Pediatr Dermatol. 2006; 24: 101-107
Article info
Publication history
Published online: July 12, 2010
Received:
June 26,
2009
Identification
Copyright
© 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
