Lichen sclerosus

Lichen sclerosus is a progressive, inflammatory dermatosis characterized with porcelain white sclerotic plaques most commonly in the anogenital area of postmenopausal women. Children and men can also be affected. Extragenital involvement may occur. Even though the etiology is unknown; autoimmune, genetic, hormonal and infectious factors are suggested. Lichen sclerosus is associated with autoimmune diseases such as thyroid disease, alopecia areata, vitiligo, diabetes and pernicious anemia. An increased incidence of autoantibodies to the extracellular matrix protein 1 is shown in sera of patients with lichen sclerosus. Familial occurence and an association with HLA DQ7 supports the presence of genetic factors in its etiology. However, the role of estrogen and androgens could not be demonstrated as etiologic factors. Clinical similarity with acrodermatitis chronica atrophicans led researches to be held for the detection of Borrelia burgdorferi antibodies ended with conflicting results. Disease may be triggered with trauma in the presence of genetic predisposition. Pruritus is the main symptom. Pain, burning and dysesthesia may occur. Lichen sclerosus may be confused with sexual abuse in girls. Furthermore, it is more severe in the presence of sexual abuse. If not treated it leads to permanent anatomical disorders in the anogenital region. It is one of the most common cause of acquired phimosis in boys. Meatal stenosis and urinary obstruction may develop. Erectile dysfunction and dyspareunia due to introital stenosis may cause psychosexual problems in men and women. Perianal involvement causes constipation in women and girls. Long-standing anogenital lesions have the risk of developing squamous cell carcinoma. Verrucous carcinoma rarely occurs. Extragenital symptoms do not have similar risks. Ultra-potent topical corticosteroids are used as the first line therapy. In the case of unresponsiveness to corticosteroids the alternative approaches are topical immunmodulators,UVA1, calcipotriol, retinoids, and photodynamic therapy. In the presence of neoplasia and other complications surgical interventions are considered. Due to mainly preputial involvement, circumcision is an alternative procedure to topical corticosteroids in men. Often it may be curative. Lichen sclerosus is a disease with serious complications that needs life-long follow-up. Patients should be trained and encouraged for effective participation to the treatment and follow-up period

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

A Newborn with Congenital Mixed Phenotype Acute Leukemia After In Vitro Fertilization

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested

Birinci basamak sağlık kuruluşlarında çalışan hekimlerin deri ve zührevi hastalıklar ile ilgili deneyimleri ve mezuniyet öncesi eğitim hakkındaki görüşleri

Background and Design: Most patients with dermatological complaints first present to their general practitioners. In the present study, we aimed to investigate the experiences of primary care physicians on dermatological diseases and their opinions of undergraduate education. Materials and Methods: A questionnaire composed of 15 questions was prepared and was completed by practitioners working in family and community health centers. Results: We included 124 out of 142 practitioners working in family and community health centers in Denizli. Sixty-five practitioners responded the questionnaire. It was recorded that health screening in schools and/or public education were performed as preventive dermatology in 42.8% of the institutions that the practitioners were working in. The most frequent diseases encountered were eczema (37.1%), mycosis (22.7%), urticaria (10.3%), acne (7.2%) and psoriasis (6.9%), respectively. It was determined that practitioners were in need of dermatoscopy among the procedures that are not used routinely by practitioners and in need of education for potassium hydroxide and Wood lamp examination among the procedures that can be used by practitioners easily. It was found that the average dermatology training period for general practitioners was 3.5±2 weeks and most practitioners stated that this duration was insufficient. On-the-job training (median score 8.5), giving place to primary care institutions during education period (median score 8.1), giving place to dermatology during internship (median score 7.8) and case discussions (median score 7.8) were the education facilities that were reported to contribute mostly to postgraduate practical approach. Conclusion: The present study establishes very important data about practitioners' approach to patients with dermatological complaints. Practitioners' opinions of undergraduate education are also of importance because the suggestions were made according to postgraduate experiences

Mini clinical evaluation exercise in undergraduate dermatovenereology education: An experience of University of Pamukkale, Medical Faculty

Background and Design: Mini Clinical Evaluation Exercise (Mini-CEX) is being widely used in medical education and is a reliable and valid method for the assessment of residents' competency in medical interviewing, physical examination, humanistic qualities/professionalism, clinical judgment, counseling skills, organization, and efficiency. In order to enhance formative evaluation methods in our faculty, we planned to apply the method to students on dermatovenereology training. Materials and Methods: The Mini-CEX was performed by residents to 42 medical students. At first, 5 residents were evaluated by a faculty member with Mini-CEX and were informed about their application-oriented evaluator roles. The students were informed prior to conducting the assessment. Standard Mini-CEX form was used for the assessment. The participants were rated in 7 competencies and each was rated using a 9-point Likert scale. At the end of each encounter, students and evaluators rated their satisfaction with Mini-CEX using a 9-point Likert scale. Student's t-test and one-way ANOVA were used for statistical analysis. Student feedback was evaluated with "grounded theory". Results: A total of 50 assessments, 44 in outpatient and 6 in inpatient clinic, were performed. Satisfaction with the Mini-CEX was rated by the evaluators and the students as 7,16 and 7,98, respectively. There was no significant difference between the evaluators in terms of student satisfaction. Average time spent on observing the encounter and in giving feedback was 16.5 and 6.5 minutes, respectively. There was no significant difference between assessors in terms of time spent observing and giving feedback. Average scores of assessed clinical competencies were between 4,28 and 8,14. The highest scores were reported on humanistic qualities/ professionalism whereas the lowest were reported on clinical judgment skills. Discussion: According to our data, we believe that Mini-CEX may be used as an assessment tool in medical education. However, further researches should be carried out by different observers for Mini-CEX to be a part of medical education program

Pseudoxanthoma elasticum: A pediatric case

Pseudoxanthoma elasticum (PXE) is a multisystemic, metabolic and autosomal recessive inherited disorder affecting especially elastic fibers of skin, retina and blood vessels. The prevalence varies from 1:25,000 to 1:100,000. The average age of onset is 13.5 years. Yellowish papules 1-3 mm in diameter and plaques merging as linear or reticular pattern are mostly on antecubital fossae, popliteal fossae, inguinal region, lower clavicle, neck, axilla, flexural regions as umbilicus and trauma sites. Of the patients, 85% have eye involvement. The first symptom of eye involvement is spot retinal pigmentation. Cardiovascular complications occur usually in adults. The most common and early cardiovascular complication is intermittent claudication. There is no specific treatment for skin signs. Lifestyle changes may have important effects on prognosis. A male patient with 3-year history of yellowish papules on his neck and 1-year history of yellowish papules on his groins, was presented in this case report. This 7-year-old patient received a diagnosis of PXE based on medical story, clinical examination and histopathological findings. This case was presented as PXE is a rare disease and should be diagnosed by the clinician at early ages. © 2015 by Turkish Society of Dermatology

Vitamin D receptor gene polymorphisms and haplotypes (Apa I, Bsm I, Fok I, Taq I) in Turkish psoriasis patients

Background: Psoriasis is an inflammatory disease characterized by increased squamous cell proliferation and impaired differentiation. Vitamin D, Calcitriol, and its analogues are successfully used for psoriasis therapy. However, it is unknown why some psoriasis patients are resistant to Vitamin D therapy. Vitamin D mediates its activity by a nuclear receptor. It is suggested that polymorphisms and haplotypes in the VDR gene may explain the differences in response to vitamin D therapy. Material/Methods: In this study, 102 psoriasis patients and 102 healthy controls were studied for VDR gene polymorphisms. The Fok I, Bsm I, Apa I and Taq I polymorphisms were examined by PCR-RFLP, and 50 subjects received vitamin D therapy to evaluate the association between VDR gene polymorphisms and response to vitamin D therapy. Existence of cutting site is shown by capital letters, and lack was shown by lower case. The haplotypes were analysed by CHAPLIN. Results: There was significant difference in allele frequency of T and genotype frequency of Tt between cases and controls (p values 0.038 and 0.04, respectively). The Aa and bb genotypes were significantly higher in early onset than late onset psoriasis (p values 0.008 and 0.04, respectively). The genotypes Ff, ff and TT are significantly different between vitamin D3 therapy responders and non-responders (p values 0.04, 0.0001, 0.009, respectively). To the best of our knowledge, this is the first report showing importance of VDR gene haplotypes in psoriasis, the significance of the Wald and LR (Likelihood Ratio) statistics (p=0,0042) suggest that FfBbAatt is a disease-susceptibility haplotype. Conclusions: Haplotype analysis is a recent and commonly used method in genetic association studies. Our results reveal a previously unidentified susceptibility haplotype and indicate that certain haplotypes are important in the resistance to vitamin D3 therapy and the onset of psoriasis. The haplotypes can give valuable data where genotypes unable to do. © Med Sci Monit

Prevalence of dermatomycoses in Mal de Meleda patients: A field study

Mal de Meleda is a rare autosomal recessive form of palmoplantar keratoderma characterized by hyperkeratosis of the palms and soles. The presence of yeast and dermatophytes was investigated in 29 mal de Meleda patients from Koprucay canyon, Turkey, a newer geographical focus, and was found in 62.0% and 20.7% of cases, respectively. Antifungal resistance of isolates was not detected