Annular neutrophilic dermatoses.

Neutrophilic dermatoses (NDs) constitute a group of diseases characterized by sterile neutrophilic infiltrations. Many NDs usually present with infiltrated erythematous plaques, nodules, urticarial plaques, or pustules. Lesions may show variability, and atypical presentations may develop among NDs. Annular lesions have been reported in many NDs and may lead to diagnostic problems. Clinical features and histopathologic findings such as localization of the neutrophilic infiltrate, existence of other cell types, and absence of true vasculitis may be helpful to distinguish NDs. Some of these NDs are associated with infections, inflammatory diseases, and malignancies. In most NDs, systemic steroids and dapsone are very effective and usually first choices. Colchicine, antimicrobials such as doxycycline, tetracycline, and sulfapyridine, and other immunosuppressants such as cyclosporin, methotrexate, and mycophenolate mofetil have been used successfully in treating many NDs. Tumor necrosis factor α inhibitors have also been used successfully in treating many NDs. Janus kinase inhibitors are effective in CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome, anakinra in neutrophilic urticarial dermatosis, and intravenous immunoglobulin in resistant pyoderma gangrenosum. We discuss the diagnosis and management of NDs that may present with annular lesions.

Granulomatous annular diseases.

Granulomatous skin disorders comprise a large group of diseases that are typically characterized by granuloma formation both in the skin and in many other tissues. Cutaneous lesions are usually seen as erythematous papules and plaques that may occasionally be arranged in an annular, ringlike configuration. The etiopathogenesis is unclear in most cases, and granuloma formation may be associated with various systemic, infectious, and metabolic disorders, foreign bodies, environmental antigens, or malignancies. Treatment options are dependent on the etiology, extent, and severity of the lesions. This review includes the clinical, histopathologic, and dermatoscopy findings, differentials, and treatment options for noninfectious granulomatous annular skin disorders.

Histopathology in the Diagnosis of Tinea Capitis: When to Do, How to Interpret?

The diagnosis of tinea capitis is usually made by clinical signs and direct microscopic examination. Early diagnosis of this dermatophytic infection, which may cause permanent hair loss if not treated appropriately, is very crucial. In recent years, the use of dermoscopy has helped with early diagnosis. However, when tinea capitis has an atypical course and develops in adulthood, it can be confused with several diseases, such as psoriasis, seborrheic dermatitis, folliculitis decalvans, acne keloidalis, and dissecting cellulitis. Due to the different treatment approaches and prognoses, it is important to distinguish tinea capitis from invasive dermatoses on the scalp. In this article, histopathological findings of tinea capitis and several advantages and disadvantages of histopathology in the diagnosis of fungal infections are also reviewed and updated.

First Terbinafine-Resistant Trichophyton indotineae Isolates with Phe397Leu and/or Thr414His Mutations in Turkey.

Fungal infections of the skin, nails, and hair caused by dermatophyte species continue to be a worldwide concern. The increase in terbinafine-resistant superficial dermatophytosis has become a major concern over the last decade. In this report, we presented two cases of infection with terbinafine-resistant Trichophyton indotineae, the first diagnosis of this species in Turkey. One patient exhibited erythematous pruritic patches and plaques in the inguinal and gluteal regions, while the other patient showed annular erythematous scaly plaques in the bilateral posterior thigh and gluteal regions. One patient harbored a CD36 mutation. Both strains harbored the same amino acid substitution in the squalene epoxidase gene, whereas one isolate had another unknown mutation. Clinical improvement was observed with resveratrol treatment in the patient with the CD36 mutation but not in the other patient.

Strategies to improve the diagnosis and clinical treatment of dermatophyte infections.

INTRODUCTION: Significant problems are associated with the diagnosis and treatment of dermatophyte infections, which constitute the most common fungal infections of the skin. Although this is a common problem in the community, there are no adequate guidelines for the management of all forms of dermatophyte infections. Even if dermatophytes are correctly diagnosed, they sometimes exhibit poor susceptibility to several antifungal compounds. Therefore, long-term treatment may be needed, especially in immunosuppressed patients, for whom antifungal pharmacotherapy may be inconvenient owing to allergies and undesirable drug interaction-related effects. AREAS COVERED: In this review article, problems related to the diagnosis and treatment of dermatophyte infections have been discussed, and suggestions to resolve these problems have been presented. EXPERT OPINION: Pretreatment microscopic or mycological examinations should be performed for dermatophyte infections. In treatment-refractory cases, antifungal-resistant strains should be determined using antifungal susceptibility testing or via molecular methods. Natural herbal, laser, and photodynamic treatments can be used as alternative treatments in patients who cannot tolerate topical and systemic antifungal treatments.

Dramatic response to colchicine treatment in acne fulminans patients with cytological hemophagocytosis: A case series of 12 patients.

Acne fulminans is a severe form of acne with a sudden onset, rapid ulceration of the lesions, and some systemic symptoms, with or without systemic symptoms. These papulopustular lesions, whose pathogenesis is not fully understood, may exacerbate with systemic isotretinoin or may be a component of some autoinflammatory syndromes. It is recommended to control these sudden pustular attacks with systemic steroids or anti-inflammatory drugs. Here, in 12 patients with acne fulminans who developed exacerbation during systemic isotretinoin treatment and whose cytological examination revealed hemophagocytosis, colchicine treatment was started in addition to low-dose isotretinoin treatment, and a very good response was obtained to this treatment approach that did not contain systemic corticosteroids.

A multicentre prospective analysis of the incidence of pemphigoid diseases in Turkey.

BACKGROUND: The differentiation between the pemphigoid diseases is essential for treatment and prognosis. In Turkey, data on the incidence of these diseases are insufficient. Our aim in this study is to determine the incidence, demographics and clinical characteristics associated with diseases of the pemphigoid group. METHODS: We prospectively analysed 295 patients with pemphigoid who visited dermatology clinics of tertiary referral hospitals in 12 different regions of Turkey within a year. The diagnosis was based on clinical, histopathological, direct immunofluorescence (DIF) and serological (multivariant enzyme-linked immunosorbent assay [ELISA], indirect immunofluorescence and mosaic-based BIOCHIP) examinations. Clinical and demographic findings, aetiological factors and concomitant diseases observed in the patients were recorded. RESULTS: A total of 295 (female/male ratio: 1.7/1) patients with pemphigoid were diagnosed in 1-year period. The overall incidence rate of pemphigoid diseases was found to be 3.55 cases per million-years. The ratio of pemphigoid group diseases to pemphigus group diseases was 1.6. The most common pemphigoid type was bullous pemphigoid (BP, 93.2%). The others were epidermolysis bullosa acquisita (3.1%), pemphigoid gestationis (2.4%), linear IgA disease (1%) and mucous membrane pemphigoid (0.3%). The most common (26.8%) possible trigger of the bullous pemphigoid was gliptin derivative drugs. The most common concomitant diseases with pemphigoid were cardiovascular (27.8%) and neurological diseases (23.7%). CONCLUSIONS: This study showed that the increased frequency of bullous pemphigoid reversed the pemphigoid/pemphigus ratio in Turkey. Further studies are warranted regarding the reasons for this increase.

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.

ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism.

TzanckNet: a convolutional neural network to identify cells in the cytology of erosive-vesiculobullous diseases.

Tzanck smear test is a low-cost, rapid and reliable tool which can be used for the diagnosis of many erosive-vesiculobullous, tumoral and granulomatous diseases. Currently its use is limited mainly due to lack of experience in interpretation of the smears. We developed a deep learning model, TzanckNet, that can identify cells in Tzanck smear test findings. TzanckNet was trained on a retrospective development dataset of 2260 Tzanck smear images collected between December 2006 and December 2019. The finalized model was evaluated using a prospective validation dataset of 359 Tzanck smear images collected from 15 patients during January 2020. It is designed to recognize six cell types (acantholytic cells, eosinophils, hypha, multinucleated giant cells, normal keratinocytes and tadpole cells). For 359 images and 6 cell types, TzanckNet made 2154 predictions. The accuracy was 94.3% (95% CI 93.4-95.3), the sensitivity was 83.7% (95% CI 80.3-87.0) and the specificity was 97.3% (95% CI 96.5-98.1). The area under the receiver operating characteristic curve was 0.974. Our results show that TzanckNet has the potential to lower the experience barrier needed to use this test, broadening its user base, and hence improving patient well-being.

Changing Concepts and Current Definition of Majocchi's Granuloma.

Dermatophytic granuloma characterized by perifollicular granulomatous inflammation was first described by Domenico Majocchi and was later named after him, Majocchi's granuloma (MG). Although the initial description was related to a dermatophyte Trichophyton tonsurans, later reports linked MG to non-dermatophytes (Phoma, Aspergillus, Malbranchea), which led to a confusion of disease patterns caused by cutaneous pathogens and general opportunistic microorganisms. Furthermore, several causative agents of MG described in the literature were not confirmed as such. Our review addressed the following aspects: (1) significance of histopathological finding for MG diagnosis, (2) dermatophytes as exclusive agents of MG, (3) spectrum of etiological agents causing different types of invasive dermatophytic infections, and (4) treatment options.

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. METHODS: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. RESULTS: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. CONCLUSIONS: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

High accuracy of recognition of common forms of folliculitis by dermoscopy: An observational study.

BACKGROUND: Clinical differentiation of folliculitis types is challenging. Dermoscopy supports the recognition of folliculitis etiology, but its diagnostic accuracy is not known. OBJECTIVE: To assess the diagnostic accuracy of dermoscopy for folliculitis. METHODS: This observational study included patients (N = 240) with folliculitis determined on the basis of clinical and dermoscopic assessments. A dermoscopic image of the most representative lesion was acquired for each patient. Etiology was determined on the basis of cytologic examination, culture, histologic examination, or manual hair removal (when ingrowing hair was detected) by dermatologist A. Dermoscopic images were evaluated according to predefined diagnostic criteria by dermatologist B, who was blinded to the clinical findings. Dermoscopic and definitive diagnoses were compared by dermatologist C. RESULTS: Of the 240 folliculitis lesions examined, 90% were infections and 10% were noninfectious. Infectious folliculitis was caused by parasites (n = 71), fungi (n = 81), bacteria (n = 57), or 7 viruses (n = 7). Noninfectious folliculitis included pseudofolliculitis (n = 14), folliculitis decalvans (n = 7), and eosinophilic folliculitis (n = 3). The overall accuracy of dermoscopy was 73.7%. Dermoscopy showed good diagnostic accuracy for Demodex (88.1%), scabietic (89.7%), and dermatophytic folliculitis (100%), as well as for pseudofolliculitis (92.8%). LIMITATIONS: The diagnostic value of dermoscopy was calculated only for common folliculitis. Diagnostic reliability could not be calculated. CONCLUSION: Dermoscopy is a useful tool for assisting in the diagnosis of some forms of folliculitis.

Majocchi's granuloma: current perspectives.

Majocchi's granuloma (MG) is a rare fungal infection of the dermis that is mainly caused by dermatophytes (in ≥95% of cases); the most frequently identified cause is anthropophilic Trichophyton rubrum. In the rest of the cases, the causes are non-dermatophytic fungi such as Aspergillus species. This review aimed to provide information about the current perspectives on MG regarding its clinical characteristics, predisposing factors, laboratory diagnosis, and treatment strategies. Although the lower extremities were reported to be the most common site of infection, facial involvement has been predominant in the past 5 years. Our literature research showed that the most common predisposing factor (55%) is the use of topical steroid creams without potassium hydroxide examination during treatment of erythematous squamous dermatoses. A reliable diagnosis of MG is based on histopathological examination, including fungal culture and molecular analyses. MG should be treated not only with topical agents but also with systemic antifungal agents that are continued until the lesions are completely resolved. In systemic treatment, the most preferred drug is terbinafine, because of its efficacy, side effects, and safety.

The Prevalence of Malassezia Folliculitis in Patients with Papulopustular/Comedonal Acne, and Their Response to Antifungal Treatment.

Because Malassezia folliculitis (MF) may clinically mimic acne vulgaris (AV), patients usually receive unnecessary and prolonged antibiotic treatment. We aimed to determine the prevalence of MF among patients with AV, and to evaluate its response to antifungal treatment. A total of 217 patients with AV underwent cytologic examination for the presence of Malassezia yeasts. Samples were obtained from lesional and nonlesional skin and stained with May-Grünwald-Giemsa. MF was diagnosed if there were more than six spores in one microscopic field (at ×400 magnification). A modified "lesion-counting" method was used to assess the clinical severity of acne. Treatment included oral itraconazole (2×100 mg daily) and topical ketaconazole for 4 weeks. Fifty-five (25.3%) patients were diagnosed with MF; of these, 38 (69.1%) completed the antifungal treatment. The lesions decreased by 50% or more in 26 (68.4%) of the patients who completed the antifungal treatment, which reduced the number of closed comedones/comedolike or molluscoid papules and inflammatory papules. The average number of spores in lesional samples was significantly decreased after treatment (P=<.0005). We observed that MF can present with AV-like lesions, or the two diseases may coexist. Cytology is helpful for making the correct diagnosis and providing proper management of MF.

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. CONCLUSIONS: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.

Clinical practice guidelines for the diagnosis and treatment of cutaneous leishmaniasis in Turkey.

BACKGROUND: Cutaneous leishmaniasis (CL) is a vector-born parasitic disease characterized by various skin lesions that cause disfiguration if healed spontaneously. Although CL has been endemic for many years in the southern regions of Turkey, an increasing incidence in nonendemic regions is being observed due to returning travelers and, more recently, due to Syrian refugees. Thus far, a limited number of national guidelines have been proposed, but no common Turkish consensus has emerged. OBJECTIVES: The aim of this study was to develop diagnostic and therapeutic guidelines for the management of CL in Turkey. METHODS: This guideline is a consensus text prepared by 18 experienced CL specialists who have been working for many years in areas where the disease is endemic. The Delphi method was used to determine expert group consensus. Initially, a comprehensive list of items about CL was identified, and consensus was built from feedback provided by expert participants from the preceding rounds. RESULTS: Evidence-based and expert-based recommendations through diagnostic and therapeutic algorithms according to local availability and conditions are outlined. CONCLUSION: Because CL can mimic many other skin diseases, early diagnosis and early treatment are very important to prevent complications and spread of the disease. The fastest and easiest diagnostic method is the leishmanial smear. The most common treatment is the use of local or systemic pentavalent antimony compounds.