Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma

A Case of Poikiloderma Vasculare Atrophicans

Poikiloderma vasculare atrophicans (PVA) is a rare variant of mycosis fungoides, and is characterized by generalized hyperkeratotic scaly papules in net-like, retiform, or zebra-like patterns. A 59-year-old Korean woman presented with asymptomatic, erythematous-to-violaceous, reticulated confluent papules on the trunk and extremities. Skin lesions were initially limited to both thighs 25 years ...

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is ...

X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.

The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one family under the title 'hereditary osteochondrodystrophia deformans'. Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who proposed the name dysplasia spondyloepiphysaire tardive, or spondyloepiphyseal dysplasia tarda (SDT). These authors also d...

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...

An adult female with spondyloepiphyseal dysplasia tarda.