Afamelanotide in protoporphyria and other skin diseases: a review.

Afamelanotide is a synthetic alpha melanocyte stimulating hormone presenting a higher activity than natural hormones. Its main properties are related to the enhanced production of eumelanin by agonistically binding to the melanocortin-1 receptor. Since 2016 afamelanotide has been especially applied to treat cases of erythropoietic porphyria (EPP), where painful photosensitivity has been observed since early childhood. The positive effect of afamelanotide in EPP administered subcutaneously improved tolerance to artificial white light and increased pain-free time spent in direct sunlight. In this review we summarize the possible use of afamelanotide in dermatology, with special emphasis on EPP and encourage including afamelanotide as a treatment option in patient care.

Teledermatology in the diagnosis and treatment of sexually transmitted infections: a narrative review.

Teledermatology is a dynamically developing field of medicine with the potential to significantly impact the future functioning of the healthcare system, including the prevention, diagnostics, and treatment of sexually transmitted infections (STIs). While its implementation has resolved numerous issues associated with the traditional patient management model for STIs, the risk associated with handling sensitive patient data in a virtual space must not be overlooked. This article presents a literature review regarding the application of teledermatology in the diagnostics and treatment of STIs, with a particular focus on addressing relevant problems, potential obstacles, and examining the impact of the COVID-19 global epidemic on the development of this field.

Is There a Link between Thyroid Peroxidase Gene Promoter Polymorphisms and Autoimmune Thyroiditis in the Polish Population?

(1) Autoimmune thyroiditis (AIT) is the most common cause of primary hypothyroidism and one of the most frequent organ-specific autoimmune diseases. Its pathogenesis is polygenic and still requires further research. The aim of the study was to assess, for the first time in the Caucasian population, the role of selected TPO gene promoter polymorphisms (rs2071399 G/A, rs2071400C/T, rs2071402 A/G, and rs2071403 A/G) in the development of AIT. A total of 237 patients diagnosed with AIT and 130 healthy controls were genotyped for four TPO gene polymorphisms, and the results were statistically analyzed to check for the role of these polymorphisms. There were no significant differences in the genotype and allele frequencies of the studied TPO gene promoter polymorphisms between patients and controls (p > 0.05). The haplotype distribution (rs2071400-rs2071402-rs2071403) between the two studied groups was similar for the most common variants (CGA, CAG, TGG). Only a rare haplotype (CGG) occurred more frequently among patients compared to controls (p = 0.04). The studied TPO gene promoter polymorphisms did not show an association with susceptibility to AIT in the Caucasian Polish population, contrary to the results in Japanese patients.

Disturbances of the stomatognathic system and possibilities of its correction in patients with craniofacial morphea.

Morphea en coup de sabre and progressive hemifacial atrophy are extremely rare connective tissue disorders causing facial deformity. In extreme cases, morphological disorders are accompanied by symptoms of a clear impairment of the stomatognathic system. The aetiology of the above-mentioned diseases is still unknown. Properly planned therapy in the field of maxillofacial orthopaedics makes it possible to correct the asymmetric pattern of hard tissue growth and thus enable rehabilitation. The task of augmentation techniques is the volumetric supplementation of tissue defects resulting from atrophic processes. The degree of destruction and the extent of changes determine the method of correction. Mild and moderate defects are treated mainly with biomaterials and autologous adipose tissue. The severe course of hemifacial atrophy and morphea en coup de sabre and the associated significant tissue atrophy necessitate the search for more complex methods of treatment. In this paper, we summarize the disturbances of the stomatognathic system in patients with craniofacial morphea, together with an analysis of current treatment options.

Non-invasive detection of early microvascular changes in juveniles with type 1 diabetes.

AIMS/HYPOTHESIS: The study aimed to assess the usefulness of capillaroscopy and photoplethysmography in the search for early vascular anomalies in children with type 1 diabetes. METHODS: One hundred sixty children and adolescents aged 6-18, 125 patients with type 1 diabetes, and 35 healthy volunteers were enrolled in the study. We performed a detailed clinical evaluation, anthropometric measurements, nailfold capillaroscopy, and photoplethysmography. RESULTS: Patients with diabetes had more often abnormal morphology in capillaroscopy (68.60%, p = 0.019), enlarged capillaries (32.6%, p = 0.006), and more often more over five meandering capillaries (20.90%, p = 0.026) compared to healthy controls. Meandering capillaries correlated with higher parameters of nutritional status. In a photoplethysmography, patients with diagnosed neuropathy had a higher percentage of flow disturbance curves (p < 0.001) with a reduced frequency of normal curves (p = 0.050). CONCLUSIONS: Capillaroscopic and photoplethysmographic examinations are non-invasive, painless, fast, and inexpensive. They are devoid of side effects, and there are no limitations in the frequency of their use and repetition. The usefulness of capillaroscopy and photoplethysmography in the study of microcirculation in diabetic patients indicates the vast application possibilities of these methods in clinical practice.

Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases.

Lipomas are usually sporadic, asymptomatic lesions, and their clinical and histologic presentation does not pose diagnostic difficulties. In ambiguous cases, however, knowledge of genetics is necessary. HMGA2 expression in adipose cells enables the differentiation of normal adipose tissue from lipoma and liposarcoma. Moreover, lipomas can be associated with genetic diseases, such as multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson's disease, or mitochondrial diseases. Lipomas can run in families (familial multiple lipomatosis) or be a part of genetic syndromes such as PTEN hamartoma tumor syndrome, Proteus syndrome, and Pai syndrome. This study aims to present the genetic basis of lipomas and diseases in which these lesions occur in the clinical picture.

Selected hormone levels and lipid abnormalities in patients with acne vulgaris.

Introduction: Acne vulgaris is one of the most common dermatological diseases. Hormonal imbalance affects the skin condition and results in the formation of acne vulgaris lesions. Aim: To evaluate serum levels of testosterone, prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), triglycerides (TG), and high-density lipoprotein (HDL) in patients with acne vulgaris and compare them to healthy population. Material and methods: Forty-one patients with acne vulgaris and 47 age- and body mass index (BMI)-matched controls were enrolled in the study. Results: The mean ± SD testosterone serum level in the study group was 0.45 ±1.03 ng/ml in females and 4.24 ±0.68 in males and in the control group 0.73 ±2.03 ng/ml and 5.3 ±1.3 ng/ml in females and males, respectively. The prolactin serum level was 16.73 ±8.02 ng/ml in the study group and in the control group 13.74 ±8.71 ng/ml (p = 0.011). The FSH serum level was 12.17 ±16.93 mIU/ml and 6.2 ±7.3 mIU/ml in the study and control groups, respectively (p = 0.0001), whereas LH serum levels were 18.44 ±19.71 mIU/ml and 11.26 ±8 mIU/ml, respectively (p = 0.2659). The HDL serum level was 65.63 ±15.67 mg/dl in the study group and 61.53 ±15.89 mg/dl in the control group (p = 0.219), and TG levels were 175.29 ±82.15 mg/dl and 87.32 ±30.64 mg/dl, respectively (p < 0.00001). Conclusions: Our study demonstrates, that hormonal and lipid imbalance could be linked to acne vulgaris formation. Evaluation of hormonal and lipid abnormalities could help in treatment decisions and could affect the occurrence of complications and the course of acne.

Challenges in the Diagnosis of Tertiary Syphilis: Case Report with Literature Review.

Tertiary syphilis is a large diagnostic challenge. It is rarely the case that it affects the skin, bone tissue and the eyes at the same time. The presented case shows that extensive symptomatology of syphilis poses a challenge in making a proper diagnosis in patients whose history does not suspect STDs. The study aims to present the case of a young woman hospitalized with a suspected autoimmune disease, diagnosed with symptomatic late syphilis with involvement of the skin, bones and eyes.

Evaluation of knowledge in the field of proper skin care and exacerbating factors in patients with psoriasis.

Introduction: Psoriasis is one of the most common dermatological diseases. It is characterized by a chronic course with periods of exacerbations and remissions. The recurrent nature of the disease and the influence of environmental factors on its course require the patients not only to be treated but also to have knowledge of prophylaxis and proper skin care. Aim: Obtaining information on the level of knowledge of patients suffering from psoriasis in the field of triggering factors and proper skin care. Material and methods: A total of 130 patients with psoriasis participated in the study. The research tool was the author's questionnaire addressed to patients. Results: Research has shown that the main source of knowledge for people with psoriasis was the Internet (85%). Only 17% obtained information about the disease from medical personnel. The respondents were aware of the negative impact of only some environmental factors, such as: injuries (63%), stimulants (77%), stress (95%), and infections (69%). Most subjects attributed the therapeutic effect to brine baths (74%). Usually the patients were aware of the oiling (85%) and moisturizing (33%) effects of emollients on psoriatic lesions. Only 46% of the respondents obtained a positive test result. Demographic variables correlated with the level of knowledge. Conclusions: The knowledge of psoriasis patients about exacerbating factors and proper skin care is insufficient.

Novel Demodex detection method involving non-invasive sebum collection and next-generation sequencing.

Introduction: Demodex mites are common human ectoparasites found across a broad geographical range. They reside in pilosebaceous units of the skin and feed on sebum, epithelial and glandular cells. D. folliculorum is the more common mite, inhabiting the upper end of the pilosebaceous unit while D. brevis resides deeper in the skin and meibomian glands. Until now, Demodex mites have been obtained by various techniques such as skin scraping, cellophane tape, plucking eyelashes, and also by invasive biopsies. Aim: To assess whether non-invasively collected sebum samples of patients suspected of rosacea or demodicosis are suitable for NGS DNA Demodex analysis. Material and methods: Suspicion of seborrheic dermatitis or rosacea was the inclusion criterion. The study group consisted of 20 males, 1 female, age: 33-83, median: 58. Nasal dorsum was moisturized and an adhesive strip was applied. DNA was isolated from the sebum and sequenced with the use of MiSeq® Reagent Kit v2 and MiSeq® System. Results: Out of 7 patients who were positive by microscopy, 6 were found positive by NGS. Additional 4 patients were found positive only by NGS, adding to a total of ten. The NGS approach showed superior sensitivity compared to light microscopy (63% and 44%, respectively). In 3 patients, both Demodex species were identified by NGS. Conclusions: We believe to have proven that it is possible to study Demodex mites by NGS with sebum as the input sample. Furthermore, it is possible to identify and distinguish Demodex folliculorum from D. brevis in individual patients.

Usefulness of high-frequency ultrasonography in the assessment of alopecia areata - comparison of ultrasound images with trichoscopic images.

Introduction: Trichoscopy allows us to distinguish between different types of alopecia and to determine the stage of the disease. High-frequency ultrasonography (HF-USG) enables the evaluation of structures that are not available for clinical and trichoscopic examination, but it has not been widely used to date in the evaluation of patients with alopecia areata (AA) and other scalp disorders. Aim: To characterise the ultrasound images of patients with AA, including different stages of the disease, and to compare them with trichoscopic images and other scalp diseases. Material and methods: Twenty-five patients with AA, on the basis of trichoscopic examination, were qualified to three groups: with active, inactive, and regrowth phase. Next, HF-USG (20 MHz) with qualitative and quantitative evaluation of various elements of the images was performed: entrance echo (EE), dermis (dermal background; DB), follicular structures (FS), dermal/ subdermal border (D/SB). The results were compared with 10 healthy volunteers, 10 patients with androgenic alopecia (AGA), and 12 with seborrhoeic dermatitis (SebD). Results: Active AA was characterised by FS with distinct borders, drop-like shaped, with a widened distal end located in the lower layers of DB. Inactive AA was characterised by a smaller number of FS without distinct borders. In the regrowth phase, FS of different widths, elongated, and with widened distal parts located at different DB depths were observed. Conclusions: HF-USG (20 MHz) may be a valuable diagnostic method in patients with AA. Ultrasound images of AA vary according to the stage of the disease and in comparison with AGA, SebD, and healthy individuals.

Profiling of microRNAs in actinic keratosis and cutaneous squamous cell carcinoma patients.

Actinic keratosis (AK) is a common skin lesion often defined as premalignant with more evidence indicating it as early stage of cutaneous squamous cell carcinoma (cSCC). The AK may remain stable, transform towards incisive cSCC or in some cases revert spontaneously. Several different underlying conditions can increase risk of cSCC, however, advanced age represents major risk of AK and its progression towards cSCC indicating increased risk during chronological aging. Importantly, AK and cSCC are characterized by similar genetic profile, which lead researchers to search for novel biomarkers allowing early detection. As skin sampling is often invasive and causes scaring, in the current study, we investigated a novel approach to establish potential blood circulating genetic markers in patients diagnosed with AK and cSCC. Based on clinical diagnosis and dermoscopy, we recruited 13 patients with AK (divided into two groups: the first included patients with no more than three lesions, the second group included patients with at least ten lesions) and two additional individuals diagnosed with cSCC. Deep sequencing analysis of serum circulating miRNAs detected a total of 68 expressed miRNAs. Further analysis indicated 2 regulated miRNAs for AK cohort and 12 miRNAs for cSCC patients, while there were 26 miRNAs differentially regulated between cSCC and AK patients. There was also one commonly regulated miRNA between AK and cSCC patients and ten miRNAs that were regulated in cSCC when compared with both control and AK patients. We did not observe any differences between the AK groups. In conclusion, our analysis detected in circulation some miRNA that were previously recognized as important in AK, cSCC, and other type of skin cancer supporting this approach as potential non-invasive diagnosis of AK and cSCC.

Epidermal barrier function in patients after allogeneic hematopoietic stem cell transplantation - a pilot study.

Introduction: The skin is the typically and predominantly affected organ in patients after allogeneic hematopoietic stem cell transplantation (alloHSCT). The supportive therapy in patients after alloHSCT includes especially ultraviolet protection and the use of emollients. Aim: Due to the lack of studies regarding epidermal barrier function in patients with alloHSCT, our aims were to monitor dermatologically patients 1 year after the procedure with special emphasis on epidermal barrier function and to evaluate the properties of epidermal barrier function in patients with confirmed chronic GvHD (cGvHD). Material and methods: Our pilot study included 30 patients after alloHSCT and 20 healthy controls. In the group of patients after alloHSCT there were 10 individuals who were monitored dermatologically (including evaluation of skin, mucosae, nails and hair) within 1 year after the procedure (subgroup 1) and 20 patients with previously confirmed cGvHD (subgroup 2). We evaluated transepidermal water loss (TEWL), skin hydration and skin color. The clinical assessment and all noninvasive evaluations in patients included in subgroup 1 were performed before (at baseline) and 3, 6, 9 and 12 months after the procedure, while in subgroup 2 they were performed once. Results: In subgroup 1 we did not observe significant differences between baseline results and periods of assessments in TEWL values or corneometry, erythema and melanin measurements. In subgroup 2 the highest TEWL values and the lowest corneometry results were observed in patients with sclerodermoid chronic cutaneous GvHD in comparison to patients with lichenoid chronic cutaneous GvHD and patients with cGvHD but without skin lesions. TEWL values and melanin level were significantly higher in patients with cGvHD than in controls. Conclusions: Our pioneer observations proved the disturbed epidermal barrier function among patients after alloHSCT. Therefore it seems that proper skin care, including photoprotection, should be recognized as a crucial component in long-term management of these patients.

Controversy around the morphea.

Morphea, also known as localized scleroderma, is a chronic, autoimmune disease of connective tissue. It is characterized by a typical clinical feature. In morphea, there is no Raynaud's phenomenon, no sclerodactyly or no ulcerations on the fingertips. Although morphea and systemic sclerosis have been perceived as separate disease entities for years, they are still confused both by patients (which is a source of unnecessary stress) and doctors. This may be due to, in part, misunderstood terminology. The controversy around morphea also concerns the division of this disease entity, including its less common subtypes, such as eosinophilic fasciitis. Discussions also revolve around the diagnostic aspects and possible treatment options. The paper attempts to present the debatable aspects regarding nomenclature, classification, diagnosis and treatment of morphea.

Dermoscopy, light microscopy, and real-time polymerase chain reaction for the diagnosis of scabies. Preliminary results.

INTRODUCTION: Scabies is a widespread, contagious parasitic disease causing intense itching. Its detection is a significant problem while there are no internationally agreed standards. AIM: To compare diagnostic methods: microscopy of skin scrapings, dermoscopy, and real-time polymerase chain reaction (PCR) of skin scrapings and wet skin swabs. MATERIAL AND METHODS: We included patients with clinical signs of scabies. After dermoscopic evaluation, scrapings were collected from skin lesions and assessed by light microscopy and real-time PCR. Wet skin swabs were also analysed by real-time PCR. Surveys on the presence and severity of pruritus and skin lesions were collected. Seventy-five skin scrapings and 41 wet swabs were examined by real-time PCR. Fifty-three patients completed the survey. All patients underwent dermoscopy and microscopy examinations. 6.67% were positive by microscopy, 10.7% by dermoscopy, 28.0% by real-time PCR from scrapings, and 36.6% when both scrapings and swabs were examined by real-time PCR. All microscopy-positive results were also positive by PCR. RESULTS: There was a correlation between real-time PCR from positive scrapings and pruritus (p = 0.023) and body surface area of lesions (p = 0.002), a correlation between copies from wet skin swabs and BSA of lesions (p = 0.002) in the whole group, and a correlation between copies of S. scabiei from scrapings and age (p = 0.038). CONCLUSIONS: Real-time PCR testing of scrapings and dermoscopy are more effective than microscopy. Combined real-time PCR testing of scrapings and skin swabs seemed the most effective. Clinical signs alone should not be used as unambiguous criteria.

The microbiome of the human skin and its variability in psoriasis and atopic dermatitis.

The human organism is inhabited by very diverse microorganisms, which constitute the so-called human microbiome and are necessary for the proper functioning of the macroorganism. The correct microbiome ensures homeostasis of the body. A disturbance in its homeostasis leads to dysbiosis. Such deviations may also be related to the development of inflammatory skin diseases, including atopic dermatitis and psoriasis. This review aims to analyse the most current published data on the microbiome of the human skin and examine its role in cutaneous skin diseases, such as atopic dermatitis and psoriasis. This review was compiled by collaborating dermatologists specializing in atopic dermatitis and psoriasis. A comprehensive review of current literature was done using PubMed and limited to relevant case reports and original papers on the skin microbiome in atopic dermatitis and/or psoriasis. It has not been yet established whether changes in the microbiome are the cause or consequence of disease (atopic dermatitis/psoriasis). However, it was found that in the cases where pathological microflora predominated, an intensification of lesion severity is observed, while with clinical improvement, commensal microflora is restored. Modification of the composition of the microflora may lead to changes in the activation of the immune system and eventually to the development of inflammatory diseases. Adverse effects on the microbiome may include antibiotics, poor diet, stress and adverse environmental conditions. However, more research is needed to identify exact details and mechanisms.

High-Frequency Ultrasonography and Evaporimetry in Non-invasive Evaluation of the Nail Unit.

Background: The nail unit (NU) is a complex structure that performs a number of functions, including protection, defense, manipulation, and palpation. Non-invasive research methods can facilitate the recognition of NU structure and function. Evaporimetry and HF-USG due to their availability of equipment and low research costs seem to be particularly noteworthy, but so far have been assessed to a limited extent. The aim of the presented study was to check the usefulness of TOWL and HF-USG in examination of NU. Materials and Methods: A total of 58 volunteers aged 25-65 years (mean age: 41 ± 10.16 years) were qualified for the study. The subjects did not present symptoms of clinically evident onychopathy and did not suffer from any dermatoses associated with lesions occurring within the NU. Additionally, the patients did not suffer from systemic diseases that could affect NU (including heart, lung, and endocrine diseases). In all volunteers, the measurement of TOWL and 20 MHz ultrasonography [high-frequency ultrasonography (HF-USG)] with the special emphasis on determination of nail plate thickness were performed. Results: Analysis of 464 HF-USG images revealed that the nail plate presented as two hyperechoic, parallel streaks (railway sign) with a linear hypoechoic middle layer between them. Matrix was visualized as a hypoechoic structure with blurred boundaries, mostly within the fourth and fifth fingers and more often in women. We found statistically significant correlations between the type of a finger and the thickness of the nail plate both in the entire study group and taking into account gender. In the dominant hand, the results were r = -0.341; p < 0.001; r = -0.417, p < 0.001; and r = 0.337; p = 0.001 (for the whole group, for women, and for men, respectively). In the non-dominant hand, the results were r = -0.465; p < 0.001; r = -0.493, p < 0.01; and r = -0.503; p < 0.01 (for the whole group, for women, and for men, respectively). There were statistically significant differences in the thickness of the nail plates of the corresponding types of fingers between female and male NUs. Statistically significant correlations were found between the type of a finger and the TOWL value in the whole group and taking into account gender (p < 0.05), except for the non-dominant hand in men. There were no statistically significant differences in the TOWL values of the corresponding types of fingers between male and female NUs (p > 0.05). There was no statistically significant correlation between the TOWL value and the nail plate thickness in any of the tested NUs, apart from the one statistically significant correlation in nd5 (r = 0.390, p = 0.021). Conclusions: To sum up, non-invasive methods, such as HF-USG and TOWL, enable assessment of the NU and are useful in examination of its structure and function. HF-USG shows characteristic elements of NUs that can be distinguished because of differences in their echogenicity. The thickness of the nail plate and TOWL depend on the type of finger, and show a relationship with gender.