Kimura disease (KD) is a rare condition that predominantly affects young middle-aged Asian men. It is classically characterized by tumors in the head and neck region with associated eosinophilia and elevated serum immunoglobulin E levels. The exact pathogenesis of this condition remains unknown. Although some regard it as a reactive condition, others believe that it is a T-cell-mediated disease. T-cell clonality has been recently demonstrated in a few cases. We report a 37-year-old Lebanese woman who had both KD and mycosis fungoides (MF). T-cell receptor gene rearrangement studies using 2 different techniques did not detect any clonality for T-cell receptor in both KD and MF lesions. Due to the presence on histology of lymphoid follicles and the persistent high serum immunoglobulin E levels, we elected to attempt treatment with rituximab. Although the KD lesions persisted, they became softer and less nodular. As for the MF lesions, they flared transiently and then exhibited a sustained improvement over a follow-up period of 1 year.

Background: Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. Methods: We analyzed the DNA of members from 3 consanguineous families for mutations in the CTSC gene by direct sequencing analysis. We then performed haplotype analysis. Results: We identified an identical recurrent missense mutation, R272P, in all 3 families. Microsatellite marker analysis around the CTSC gene revealed the same haplotype on the mutation-carrying allele in all 3 families. Conclusion: The presence of this common mutation in families from 2 different geographical areas provides evidence for a founder effect for CTSC mutations in PLS.

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Dermoscopic findings revealed the bite hole in the lesion (Fig. 1b) and that the tick had lost its hypostome (Fig. 1c). The figure clearly showed the trace left in the skin by the tick's hypostome. Verification of a tick bite is important because the persistent presence of the hypostome in the skin can lead to infection or granuloma when the tick carries an infectious pathogen. 5 Application of dermoscopy to the captured tick and the bite lesion is effective for confirming a tick bite. The dermoscopic technique may be useful for immediate and precise findings for tick bites, when tick is detached from skin. Figure 1 (a) A consanguineous Lebanese family with one affected boy. (b) Shedding of the collodion membrane with underlying erythroderma. (c) Evidence of mild ectropion. (d) Complete resolution of skin lesions at 10 months of age. (e) Nonsense mutation consisting of a C > T transition (CGA > TGA), resulting in a premature stop codon in the affected individual. The father is heterozygous for the mutation.

The patient is a 15-year-old male who presented with a complaint of painless hand nodules. He was referred by an outside dermatologist for evaluation of nodules on the dorsal and lateral aspects of his fingers that had been present for approximately 18 months (Fig. 1). Prior evaluation by the primary care provider included normal hand radiographs. A previous superficial biopsy was performed showing changes consistent with lichen simplex chronicus. The patient reported previously, that applying topical corticosteroids provided little benefit. Physical examination is significant for six hyperkeratotic firm, 4 to 15 mm nodules in a periarticular distribution dorsally and laterally on both hands (Fig. 1). A thorough cutaneous examination failed to reveal similar lesions. A 3-mm-punch biopsy was obtained for histopathology and special stains (Figs. 2 and 3).