H syndrome: The first 79 patients - 18/12/13
Abstract |
Background |
H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3.
Objective |
We sought to investigate the clinical and molecular findings in 79 patients with this disorder.
Methods |
A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature.
Results |
The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation.
Limitations |
In the 31 patients described by others, data were collected from the medical literature.
Conclusions |
H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients.
Le texte complet de cet article est disponible en PDF.Key words : genodermatosis, H syndrome, histiocytosis, hyperpigmentation, SLC29A3
Abbreviations used : FHS, IDDM, OMIM, PHID, RDD
Plan
Supported in part by the Authority for Research and Development, Hebrew University of Jerusalem (Dr Zlotogorski) and the Hadassah-Hebrew University Joint Research Fund (Dr Molho-Pessach). |
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Conflicts of interest: None declared. |
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Reprints not available from the authors. |
Vol 70 - N° 1
P. 80-88 - janvier 2014 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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