No abstract

Telangiectasia macularis eruptiva perstans (TMEP) is a form of mastocytosis. It is an uncommon condition, particularly in children. The disorder is characterized by telangiectatic macules and generally has a good prognosis, with little tendency to urticate or cause constitutional symptoms. We report a girl who presented at age 2 with a 6-month history of erythematous macules on her arms and legs. The lesions were larger and possessed a more angular configuration than classic telangiectases. They slowly spread to her torso and face; there were no associated constitutional symptoms. Histopathologic examination showed dilated capillaries and increased numbers of mast cells, consistent with TMEP. Mastocytosis should be considered in patients presenting with telangiectatic lesions that are atypical in appearance, distribution, or onset.

Venous malformations with glomus cells are localised cutaneous lesions of vascular dysmorphogenesis.They are usually sporadic, but sometimes familial. Using five families, we mapped the locus, VMGLOM, to chromosome 1p21-p22. In order to refine this locus, spanning 4-6 Mbp, we then studied seven additional families. They exhibited linkage to VMGLOM and the combined lod score for all 12 families was 18.41 at θ = 0.0 for marker D1S188. We found a distinct haplotype shared by seven families, comprising seven alleles which are rare in the general population (P < 0.01). This indicates that the haplotype is identical by descent in all seven families, and hence the locus can be refined by inferring ancestral crossovers. Using this approach, we position the causative gene between two markers on the same non-chimeric YAC of 1.48 Mbp, a feasible size for positional cloning. As there is no known gene involved in vasculogenesis and/or angiogenesis in this YAC, the identification of the causative gene is likely to reveal a novel regulator or vascular development. European Journal of Human Genetics (2001) 9, 34-38.

The cotton swab technique is an easy, atraumatic, inexpensive, and reliable means to evaluate patients with suspected tinea capitis. The method remains sensitive and specific even when transport of these specimens is required and processing is thus delayed. This painless technique requires little technical expertise and can be rapidly performed with a standard cotton tip applicator. It should prove an invaluable aid to practitioners in evaluating patients with possible fungal infections of the scalp.