Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Background: The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36.

Methods: Refined genetic mapping and DNA sequencing of 44 genes between D2S2210 and D2S2244 revealed BCS1L mutations. Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome.

Optimized UVB treatment of atopic dermatitis using skin reflectance measurements. A controlled, left-right comparison trial.

In a randomized, open, left-right comparison study, 20 patients with atopic dermatitis were treated with UVB. One side of the body received UVB in a conventional regimen with fixed dosage increments, the other side was given UVB dosages according to skin reflectance measurements of skin pigmentation and erythema. Clinical outcome was assessed by SCORAD.

Facial premature ageing as a side-effect following bone marrow transplantation.

Two female patients developed an acute graft versus host reaction with generalized erythema and subsequent desquamation after allogeneic bone marrow transplantation. Later, over a period of months both developed chronic graft versus host reactions with involvement of liver and lungs. Shortly after the diagnosis of the chronic graft versus host disease both patients developed severe elastosis of the facial skin.

Phototoxicity to diuretics and antidiabetics in the cultured keratinocyte cell line HaCaT: evaluation by clonogenic assay and single cell gel electrophoresis Comet assay).

Background: Potential phototoxicity has been described for a number of drugs and chemical substances. Psoralens, chlorpromazines and fluoroquinolones have been described as inducing photomutagenicity and photocarcinogenicity in vitro and in vivo. We wanted to investigate oral antidiabetics and diuretics for potential phototoxicity and possible DNA damage in the HaCaT cell line.