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   Table of Contents - Current issue
October-December 2020
Volume 14 | Issue 4
Page Nos. 83-108

Online since Thursday, December 31, 2020

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High prevalence of high-risk cutaneous squamous cell carcinoma in the thrace region of Turkey p. 83
Sezgi Sarikaya Solak, Haydar Yöndem, Yildiz Gursel Urun, Mert Cezik, Nuray Can
Background: The characteristics of cutaneous squamous cell carcinoma (cSCC) may show differences according to the geographic distribution and ethnicity. Although most cSCCs are treated with surgical excision or other local interventions, high-risk cSCCs may have poor outcome. In the present study, we aimed to evaluate the clinicopathological characteristics and determine the high-risk features of cSCCs in the Thrace region of Turkey where the information on cSCCs is scarce. Methods: We retrospectively investigated the biopsy-proven cSCCs diagnosed between the years 2014 and 2018, in a tertiary university hospital and evaluated the high-risk features. Results: A total of 211 cSCCs were included. Men with cSCC were significantly younger than women with cSCC (P <.001). Almost one-half of the tumors (n = 103) were located on the lower lip. Patients with a cSCC on the lower lip were younger than those with a cSCC on the other sites. All patients with a cSCC on the ears were men. Twenty-eight percent of patients had tumor size more than 20 mm and 28% had tumor thickness more than 6 mm. Immunosuppression was present in 7.6% of patients. A total of 177 (83.9%) patients had high-risk cSCC. The local recurrence rate was 6.2%, and the metastasis rate was 5.2%. Conclusions: The Thrace region has significant number of cSCC, and high-risk features are very frequent. Clinicians should carefully evaluate the cSCCs in terms of high-risk features.
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CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations p. 90
Esra Arslan Ates, Hüseyin Onay, Ilgen Ertam, Esra Ataman, Filiz Hazan, Asude Durmaz, Tugrul Dereli, Ferda Özkinay
Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis, self-healing collodion baby, and bathing suit ichthyosis. Mutations in TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3 genes have been described in patients with ARCI. However, in 20% of the ARCI patients, the genetic defect remains unknown. Materials and Methods: In this study, we investigated the mutations in the CYP4F22 gene in ARCI patients who do not have mutations in two common ARCI genes, NIPAL4 and TGM1. Twenty-two patients diagnosed with ARCI and having no mutations in TGM1 and NIPAL4 genes were included in the study. Their CYP4F22 genes were sequenced using the Sanger sequencing method. Results: In 5 of 22 (22.7%) ARCI patients, four different mutations, of which two were previously reported, were found. The two novel mutations were c.976C> T and c.1189C> T. The c.727C> T and c.1303C>T mutations were previously reported. Conclusions: This study expands the CYP4F22 mutation spectrum and to provide more accurate genetic counseling for patients at risk.
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Androphenotypic features in patients with coronary artery disease p. 95
Gülsüm Gençoglan, Fatmagül Gülbaşaran, Işıl Inanir, Uğur Kemal Tezcan, Kamer Gündüz
Objective: It has been a debate whether phenotypic features are associated with increased risk of coronary heart disease. Proposed explanations for this relation include biological aging, individual susceptibilities, and androgens which contribute to both the atherosclerotic process and dermatological signs. The results of the studies are inconsistent and most are not based on cardiovascular imaging techniques. Here, association between androphenotypic features and the risk and severity of coronary artery disease (CAD) in men is evaluated. Methods: This case–control study consists of 166 male patients with angiography-proven CAD and 160 age-gender-matched controls. Gensini score of angiograms (for severity of CAD) and phenotypic characteristics including androgenetic alopecia (AGA), thoracic hairiness (TH), hair graying a diagonal earlobe crease (DEC), and hairy ear (HE) were recorded. Men with well-established cardiovascular risk factors were excluded. Results: AGA, DEC, and HE were significantly more frequent in patients with CAD than controls (98.2% and 83.1% [P < 0.001], 61.4% and 23.8% [P < 0.001], 69.3% and 50.6% [P = 0.001], respectively). As the severity of AGA increased, the incidence of heart disease was increasing in patients. The presence of TH and AGA was found to be related to higher Gensini scores. Conclusion: The exact mechanism between these phenotypic features and CAD still remains to be elucidated. However, observation of visible aging signs is easy and inexpensive. AGA, HE, and DEC may be used as early screening tools for CAD.
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Misleading clinical presentation of a palmar lichen nitidus masquerading as pompholyx p. 99
Ghazal Ahmed, Satyaki Ganguly, Hitesh Yadav
Lichen nitidus is usually a chronic localized disease of unknown etiology having multiple differentials. A 10-year-old boy presented with itchy, multiple, discrete, grouped, and minute papules with surrounding erythema in some and exfoliation in few others, involving the center of the right palm, the palmar aspect of the left little finger with few lesions over the dorsal surface of both the hands. The presenting feature misguided us with a few clinical points which are unusual in lichen nitidus. We report the case to highlight the clinical mimicry and limitations of clinical assessment for diagnosing lichen nitidus.
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Psoriasis vulgaris developing in healed pemphigus vulgaris: A rare case of epitope spread or isotopic response? p. 102
Ravindranath Brahmadeo Chavan, Vasudha A Belgaumkar, Nitika Sanjay Deshmukh, Ranjitha Krishnegowda
Although psoriasis and autoimmune blistering diseases are considered to be disorders with completely different etiopathogenesis, literature has documented a few cases of psoriasis associated with bullous diseases, particularly bullous pemphigoid. Here, we report the case of a 30-year-old male presenting with multiple flaccid blisters and erosions, clinically and histopathologically consistent with the diagnosis of pemphigus vulgaris. Although all these lesions resolved after two doses of dexamethasone cyclophosphamide pulse therapy, he returned 3 weeks later with multiple erythematous scaly plaques developing over the postinflammatory areas, compatible with the diagnosis of psoriasis vulgaris, which necessitated a modification in the treatment protocol. This rare case highlights the diagnostic and therapeutic challenges accompanying this unique scenario and attempts to elucidate the probable pathogenic mechanisms underlying the co-existence (simultaneous or sequential) of these two apparently unrelated dermatoses.
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Phacomatosis pigmentokeratotica associated with unilateral toe walking due to short achilles tendon p. 106
Andac Salman, Ayse Deniz Yucelten, Ozlem Akin Cakici, Olcay Unver
Phacomatosis pigmentokeratotica (PPK) is characterized by the co-occurrence of speckled lentiginous nevus (nevus spilus) and an organoid nevus with or without extracutaneous involvement. The extracutaneous manifestations may vary widely with musculoskeletal, neurologic, ocular, and vascular findings. The PPK is also associated with an increased risk of cutaneous or extracutaneous tumors. Therefore, the patients with PPK should be followed up regularly for possible malignant transformation. Here, we report a 5-year-old boy with PPK associated with toe walking due to short Achilles tendon, which was not previously reported, to our knowledge.
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