Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.

This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80-82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n = 3,341; 25%), porokeratosis (n = 2,277; 17%), palmoplantar keratodermas (n = 1,754; 13%), the epidermolysis bullosa group (n = 1011; 7%); Darier disease (n = 770; 6%), Hailey-Hailey disease (n = 477; 4%) and Gorlin syndrome (n = 402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.

Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma.

BACKGROUND: Porokeratosis is a clinically heterogeneous group of keratinization disorders with a genetic background mainly affecting the mevalonate pathway, which is involved in the synthesis of cholesterol, an essential component for the formation of the extracellular lipid lamellae in the stratum corneum. Porokeratosis is reportedly associated with an increased risk of keratinocyte cancer, but to date, no large epidemiological studies have been conducted to further address this association. OBJECTIVES: The first objective was to characterize a cohort of patients diagnosed with porokeratosis at the Department of Dermatology and Venereology, Sahlgrenska University Hospital (SU), Gothenburg, Sweden. The second objective was to conduct a nationwide registry-based cohort study to investigate the association, if any, between porokeratosis and the cutaneous malignancies squamous cell carcinoma (SCC), basal cell carcinoma (BCC) and melanoma. METHODS: For the SU cohort, the hospital registry was searched for patients with a diagnosis of porokeratosis recorded between 2016 and 2020. Clinical data were extracted from the records of the identified patients. For the nationwide cohort, national registries were searched to identify patients with a diagnosis of porokeratosis between 2001 and 2020. A tenfold control cohort was formed by Statistics Sweden. The data was cross-referenced with the Swedish Cancer Register to study the associations between porokeratosis and SCC, BCC and melanoma. RESULTS: Disseminated superficial actinic porokeratosis was the most common clinical type among the 108 patients in the SU cohort. In the nationwide search, 2277 patients with porokeratosis were identified (prevalence 1/4132). Porokeratosis was associated with an increased risk for SCC, BCC and melanoma with hazard ratios (95% CI) of 4.3 (3.4-5.4), 2.42 (1.97-2.98) and 1.83 (1.18-2.82), respectively, in the patient cohort, compared to the matched control group. CONCLUSION: Porokeratosis is a common genodermatosis, and it is associated with an enhanced risk of skin cancer.

Dermatological aspects of synthetic cannabinoid addiction.

CONTEXT: Synthetic cannabinoids (SCs) have recently become one of the most abused substances among young population and have caused severe health consequences in our country and worldwide. OBJECTIVE: The aim of this study was to investigate sociodemographic and dermatological findings in SC addicts. MATERIALS AND METHODS: A total of 136 SC users who applied to our hospital's Substance Dependence Center outpatient clinic and diagnosed with drug addiction according to DSM-4 criteria between September 2014 and September 2015 were enrolled to our study. Patients were evaluated by dermatologist and psychiatrist with sociodemographic and clinical data sheets. Data were obtained by direct conversation with patients, clinical examination findings, and laboratory tests, if necessary. RESULTS: Of 136 patients, 12 (8.8%) were female and 124 (91.2%) were male, aged between 17 and 53 with mean age of 25.8 ± 9.2. Most common use way of SC was smoking and patients majorly used opiates before SC. The majority of the patients enrolled to our study were low-educated and almost 50% did not have a regular job. The most frequent dermatologic complaints were periorbital darkening, hallowed-cheeks and premature aging, hair loss and gray hair, and acnes, whereas most frequent dermatologic examination findings were artifact lesions such as blade scars and tobacco scars-stains, tattoos, and acnes. DISCUSSION AND CONCLUSIONS: Given the increased prevalence of SC use in our country and around the world, dermatologists should continue to familiarize themselves with the common mucocutaneous markers of this substance use. Awareness of signs of SCs use will facilitate earlier diagnose, intervention, and directed treatment.

Effect of the Syrian Civil War on Prevalence of Cutaneous Leishmaniasis in Southeastern Anatolia, Turkey.

BACKGROUND: Cutaneous leishmaniasis (CL) is a vector-mediated skin disease, characterized by chronic wounds on the skin and caused by macrophages in protozoan parasites. It is an endemic disease in the southern and southeastern Anatolia region and is still an important public health problem in Turkey. Because of the civil war in Syria, immigrants to this region in the last 3 years have begun to more frequently present with this disease. The aim of this study was to draw attention to the dramatic increase in new cases with CL after the beginning of the civil war in Syria. MATERIAL AND METHODS: In this retrospective study, we evaluated demographic, epidemiological, and clinical features of 110 patients diagnosed with cutaneous leishmaniasis who were admitted to the Department of Dermatology at Kahramanmaras Sutcu Imam University Faculty of Medicine between January 2011 and June 2014. RESULTS: A total of 110 patients included in the study; 50 (45%) were males, and 60 (55%) were females. The age range of the study group was 1-78 years, and the infection was more prevalent in the 0-20 year age group. Of these patients, 76 (69%) were Syrian refugees living in tent camps and 34 (31%) were Turkish citizens. The majority of the cases were diagnosed between October and December. CONCLUSIONS: Immigrations to endemic regions of Turkey from neighbouring countries where CL incidence is higher may lead to large increases in case numbers. In order to decrease the risk of exposure, housing conditions of the refugees must be improved, routine health controls must be performed, effective measures must be set in place for vector control, and infected individuals must be diagnosed and treated to prevent spread of the infection.

Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.

Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less frequently ichthyosiform erythroderma, cataracts, and skeletal abnormalities consisting of short stature, asymmetric shortening of the limbs, epiphyseal stippling, and craniofacial defects. CDPX2 results from mutations in emopamil binding protein (EBP) gene. The aim of our study is to identify EBP mutation in a unique case of Conradi-Hünermann-Happle syndrome with rare psoriasiform lesions.

Serum Th1, Th2 and Th17 cytokine profiles and alpha-enolase levels in recurrent aphthous stomatitis.

BACKGROUND: All aspects of aetiopathogenesis of recurrent aphthous stomatitis (RAS) have not been elucidated. RAS and Behçet's disease (BD) have clinical and immunological characteristics in common. Although T17 cytokines and alpha-enolase have been shown to play effective roles in BD and many other autoinflammatory diseases recently, their roles in RAS have not been studied extensively. In the present study, we investigated levels of several Th1, Th2 and Th17 pathways related cytokines and alpha-enolase to elucidate pathogenesis of RAS and to obtain data about possible treatment alternatives for the condition. METHODS: Serum interleukin-1, interleukin-13, interleukin-17, interleukin-18, interferon gamma and alpha-enolase levels in 24 patients with RAS, 30 patients with BD and 20 healthy controls were measured. RESULTS: Serum interleukin-1, interleukin-13, interleukin-17, interleukin-18, interferon gamma and alpha-enolase levels were higher in patients with RAS and patients with BD than in healthy controls (P < 0.005). CONCLUSION: Like Th1 and Th2 cells, Th17 cells were found to be effective in pathogenesis of RAS. In addition, alpha-enolase, the levels of which were high, may play an important role in etio-pathogenesis of RAS. Further studies to be designed in the light of these findings are required to shed light on pathogenesis and treatment of the condition.

ABO blood groups, Rhesus factor, and Behçet's disease.

INTRODUCTION: Recently, numerous studies have been carried out to explain the genetics and immunopathogenesis of Behçet's disease (BD). There is still insufficient understanding of its etiopathogenesis, but substantial genetic and immune system abnormalities have been suggested. Several studies have shown remarkable associations of ABO blood groups with various diseases. This study investigated the relationship between ABO and Rhesus (D) blood groups and Behçet's disease in Turkish patients. METHODS: Clinical data on gender, ABO, and Rhesus blood type of patients with BD were collected at the Kayseri Education and Research Hospital from 2005 to 2012. A total of 115 patients with BD were assessed for their association with ABO or Rhesus (D) blood groups and compared with the distribution of the blood groups of 25,701 healthy donors admitted to the Kayseri Education and Research Hospital Blood Center in 2010 and 2011. RESULTS: The distribution of ABO and Rhesus blood groups in patients with BD was similar to the healthy donors. No relationship was found between ABO or Rhesus blood groups and BD at our hospital. CONCLUSION: Further studies with a larger series and in different centers may be valuable for identifying the association between ABO or Rhesus (D) blood groups and BD.

Multidetector CT findings of calvarial eosinophilic granuloma.

Eosinophilic granuloma (EG) is a well-recognised benign form of Langerhans-cell histiocytosis. The estimated incidence of EG is 3-4 per million of the population. More patients are children and adolescents between the ages of 1 and 15 years. The value of plain films in the diagnosis of the EG is limited and the extent of the disease is better defined by multidetector CT (MDCT) scanning. MDCT scan with multiplanar and three-dimensional reconstruction image of the skull and brain clearly demonstrates bone destruction and soft-tissue involvement of the tumour. In this article we present the MDCT imaging characteristics of EG of the skull and discuss the differential diagnosis of this rare lesion with reference to recent literatures.

Frontal linear scleroderma en coup de sabre associated with epileptic seizure.

Linear scleroderma is a rare variant of localised scleroderma, which is usually seen in childhood and during the adolescent period, and can cause severe functional morbidity as well as cosmetic and psychological problems. Although its ethiopathogenesis is yet obscure, autoimmunity, local ischaemia and injuries, vaccination, irradiation, vitamin K injections, Borrelia burgdorferi and Varicella infections have been incriminated. A 4-year-old girl who had been followed up for about 18 months with diagnosis of epilepsy had a colour discolouration and depression that first appeared 1 year ago and then progressed on her left frontal region. Her CT scan showed a thinning in the frontal bone and depression in the frontal region. These findings are described as 'en coup de sabre' a rare form of linear scleroderma localised at the frontal region of the scalp. In this paper, we present clinical and radiological findings of a 4-year-old girl with epileptic seizures that started 1 year before the onset of the lesion of linear scleroderma.

Case report of a patient with osteopoikilosis.

Osteopoikilosis (OPK) is an uncommon osteosclerotic dysplasia. There is no exact evidence of its etiology and pathogenesis. Usually, it is an asymptomatic disease, and the diagnosis is made incidentally from radiographs, which show multiple, small, well-defined, variably shaped and widely distributed sclerotic areas over the skeleton. In this study, we report a 54-year-old man who suffers from back and leg pain and was diagnosed OPK by radiologically and review literature.