Annular elastolytic giant cell granuloma is a rare granulomatous skin disease characterized by phagocytosis of elastic fibres by multinucleated giant cells. Lesions are either solitary or grouped in a few annular patches with elevated borders and central atrophy. Sun-exposed areas are more commonly involved than covered skin. The pathogenesis of the disease is still controversial. We report a 72-year-old fair-skinned woman with unusual clinical findings. An irregularly shaped erythematous plaque covered the entire face, and hundreds of lichenoid papules were present on both sun-exposed and covered areas which gradually evolved into annular lesions of about 0.5-1 cm in diameter. Sparing of an old burn scar and a nearly complete lack of elastic fibres in the scar site were noted, illustrating the presumed importance of dermal elastic tissue in the pathogenesis. The course of the disease is chronic. Several treatments have been tried, with variable success. In our patient, improvement was achieved with chloroquine over a period of 16 weeks.

In our experience, patches were more prevalent among childhood MF cases. Overrepresentation of hypopigmented and purpuric lesions was remarkable. Progression to an advanced stage was not seen. However, recurrences after discontinuation of therapy were common.

The disease is not uncommon in the Turkish population. It may be underestimated in other countries with Caucasian populations. Therapeutic results with tetracycline and doxycycline was successful in our patients.

Dominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non-syndromic hearing impairment alone or in association with palmoplantar keratoderma (PPK). We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. The age of onset and progression of hearing loss were found to be variable among affected family members, but all of them had more severe impairment at higher hearing frequencies. Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK. However, the R75W mutation was also observed in a control individual without PPK and unknown hearing status. Therefore, the nature of the R75W mutation remains ambiguous. Our molecular findings provide further evidence for the importance of the conserved R75 in Cx26 for the physiological function of the inner ear and the epidermal cells of the skin.

No abstract