[Hydroa vacciniforme-like cutaneous T cell lymphoma: a case report and literature review].

Objective: To study the clinical features, diagnosis and therapy of hydroa vacciniforme-like cutaneous T cell lymphoma.

Methods: The clinical presentations and the findings of laboratory examinations and skin biopsy of affected tissue in a child with hydroa vacciniforme-like cutaneous T cell lymphoma were retrospectively reviewed.

Results: The child manifested as rash, fever and lymph node intumesce.

[Effect of a novel splicing mutation (IVS2-2A-->C) of SEDL gene on RNA processing].

X-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by the mutation of SEDL gene, which mainly involves vertebral bodies and hips. To explore the effect of the novel splicing mutation (IVS2 -2A-->C) of SEDL gene on mRNA processing in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to elucidate the molecular base of SEDL, total RNA was isolated from EDTA blood samples of patients and controls. RT-PCR was performed on total RNA.

[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].

Objective: X linked spondyloepiphyseal dysplasia tarda (SEDL) is heritable osteochondrondysplasia characterized in affected males by disproportional short stature with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints. This progressive skeletal dysplasia is caused by the SEDL gene located approximately 100 kb centromeric of DXS16 at Xp22. The disorder usually manifests in late childhood without systemic complications, and generally female carriers of SEDL are asymptomatic.

[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].

Objective: To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.

Methods: In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation.