A Case of Familial Lichen Amyloidosis

Familial lichen amyloidosis which is also referred to familial primary cutaneous amyloidosis is a rare clinical variant of cutaneous amyloidosis. Lichen amyloidosis is characterized by persistent, pruritic, small brown papules often located on anterior surfaces of legs which show tendency to form plaques. Amyloid deposits would be identified in papillary dermis in histopathological examination. In our clinic, a 42 year old woman with a widespread involvement describing that similar skin findings were present in her both daughters, elder brother and her nephew was evaluated with suspicion of lichen amyloidosis. In histopathological examination of the involved skin, because of determining amyloid deposits in papillary dermis the case was cited as lichen amyloidosis. Our case was searched for the accompanying diseases such as atopic dermatitis, chronic urticaria, lichen planus, multiple endocrine neoplasia and Kimura disease. The family history of our patient was consistent with autosomal dominant inheritance. Familial lichen amyloidosis has been reported as cases with autosomal dominant inheritance from Russia, Germany, United Kingdom and South America. The genetic researches over familial lichen amylodiosis are limited to the cases with multiple endocrine neoplasia. In this rarely reported cases, further genetical researches are necessary in order to determine the responsible gen locus. (Turkderm 2008; 42: 137-9

Pemfigus etiyopatogezinde coxsackle virüsün olası rolünün araştırılması

Başlangıç seviyesi projesiPemfigus desmozomal proteinlere karşı oluşan antikorlara bağlı gelişen otoimmun büllöz hastalık grubudur. Etiyolojisi tam olarak aydınlanmamış olmakla birlikte viral enfeksiyonlar da suçlanmaktadır. Sunulan çalışmada Pamukkale Üniversitesi Tıp Fakültesi Hastanesi Dermatoloji polikliniğine başvuran pemfigus tamlı hastalarda, histopatolojik olarak akantolizin izlendiği başka bir hastalık olan el- ayak-ağız hastalığı etkeni Coxsackie virüslerin, hastalığın seyri sırasında artmış olduğu gösterilmiş çeşitli kemokin ve sitokinler üzerine sahip olduğu arttırıcı etkilerinden yola çıkarak, perilezyonel deri biyopsi materyalinde ve kanda Coxsackie virus varlığı araştırılmıştır. Bu çalışma ile Pemfigus tamlı hastalar ile sağlıklı kontrol olguları Coxsackie virus IgM ve IgG seroprevalansı açısından karşılaştırılmıştır. Bu araştırma Pamukkale Üniversitesi Bilimsel Araştırma Projeleri Birimi tarafından 2009BSP016 No.lu proje olarak desteklenmiştir

A case with Bloom Syndrome

BS is a rare, autosomal recessive disorder characterized by telangiectasias, photosensitivity, growth deficiency of prenatal onset, immunodeficiency, increased susceptibility to malignancies and diabetes mellitus. There is an increased risk of developing neoplasia at early ages. Chromosomal fractures and an increase in sister chromatid exchanges are observed in BS that presents prominent genetic instability. A sixteen year old boy applied to our clinic with complaint of erythema on his face having existed since infancy. In physical examination of the patient in whom growth retardancy has been determined, a narrow, long face, prognatism, an erythematous telangiectatic blanchable patch involving malar areas, nose, forehead, and temples have been established. The patient whose sister chromatid exchange number was determined as 107/cell in cytogenetic analyse, was cited as BS together with his phenotypic findings. The patient has been taken into follow-up in terms of cancer risk and the family was genetically informed. (Turkderm 2008; 42: 94-6

Carpet weaving: An occupational risk for onychomycosis?

Background Some occupations carry a risk for fungal infections. Objective To investigate the prevalence of onychomycosis in carpet weavers. Methods Seventy-seven weavers (the mean age ± SD = 32.97 ± 12.38) from three factories and 77 controls (the mean age ± SD = 38.32 ± 12.38) were examined for onychomycosis. Samples from nails and the carpets, which were being weaved, were taken for mycological investigations. Results Direct microscopic examination of only two controls' normal-appearing nails was positive. Fungal growth was observed in the culture of four weavers' normal-appearing nails. It was watched over that most of the weavers had polished-appearing nails and were using a glue containing cynoacrylate to restore their broken nails due to weaving. Conclusion The fungal growth observed in weavers' nails has been accepted as colonization. There is no data about the presence of fungi on normal-appearing nails. So, we thought that the weavers with fungal colonization should be followed for the development of onychomycosis. © 2009 European Academy of Dermatology and Venereology

The role of essential and non-essential elements in mal de meleda

Mal de Meleda (MDM) is a rare autosomal recessively inherited palmoplantar keratoderma. In 1826 Stulli described the disease on the Dalmatian island of Meleda. Hyperkeratosis involves other parts of the body such as elbows and knees, in addition to the palms and soles. Zinc deficiency is known to cause hyperkeratozis in addition to other skin changes. We studied the levels of essential and nonessential elements in blood and tissues /nail, hair, skin/ in MDM patients and healthy controls living in Köprüçay area, Turkey. The results show no significant difference in blood zinc, iron, copper, cadmium, and lead levels between MDM patients and healthy controls. The zinc and copper levels of nail and hair in MDM patients did not differ from those of healthy controls. © 2007, by Walter de Gruyter GmbH & Co. All rights reserved