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H syndrome: the first 79 patients
Vered Molho-Pessach1, Yuval Ramot1, Frances Camille2
1Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Journal of the American Academy of Dermatology
|November 1, 2013
Summary
H syndrome, a rare genetic disorder caused by SLC29A3 mutations, presents with diverse symptoms like skin hyperpigmentation, contractures, and hearing loss. Recognizing its variable nature is key for diagnosis.
Area of Science:
- Genetics
- Dermatology
- Endocrinology
Background:
- H syndrome is a rare autosomal recessive genodermatosis characterized by multisystemic complications.
- It is caused by mutations in the SLC29A3 gene, affecting various bodily systems.
Purpose of the Study:
- To investigate the clinical and molecular characteristics of H syndrome in a large cohort of patients.
- To analyze the spectrum of clinical manifestations and genetic mutations associated with SLC29A3-related disorders.
Main Methods:
- A comprehensive study involving 79 patients diagnosed with H syndrome, including 13 new cases.
- Inclusion of 18 patients with allelic disorders due to phenotypic and molecular overlap.
- Data compilation from medical literature for 31 previously described patients.
Main Results:
- The most frequent clinical features observed in over 45% of patients include hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature.
- Insulin-dependent diabetes mellitus and lymphadenopathy, resembling Rosai-Dorfman disease, were present in approximately 20% of cases.
- Significant interfamilial and intrafamilial clinical variability was noted, with 20 identified SLC29A3 mutations but no clear genotype-phenotype correlation.
Conclusions:
- H syndrome is a multisystemic disorder exhibiting considerable clinical variability.
- All diseases linked to SLC29A3 mutations should be viewed as a single disease entity.
- Understanding the pleomorphic nature of H syndrome is crucial for diagnosing new cases.
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