Dermatological Signs Research Articles

Review of Category A bioweapons with cutaneous features: Epidemiology, clinical presentation, and contemporary management strategies.

Major health organizations recognize various pathogens as potential bioweapons. Category A bioweapons (anthrax, plague, smallpox, tularemia, and viral hemorrhagic fevers) are the highest priority due to their ease of spread and high mortality rates. As these conditions have cutaneous manifestations, dermatologists may have an important role as front-line responders to indolent or bioterrorism threats. Few dermatologists are adequately prepared to approach the diagnosis and management of these conditions if encountered. Furthermore, despite improvements made in identifying, diagnosing, and treating these conditions over the past ten years, there persists an absence of a synthesized distribution of these updates customized to adequately equip dermatologists. In this paper, we review the epidemiology, transmission, and dermatologic signs and symptoms of the Category A bioweapons listed above. We also offer an overview of the evidence-based strategies for diagnosis and management and provide access to each states' guidelines for reporting these conditions.

Antiparasitic Efficacy in Canine Sarcoptic Mange: A Comparison Study

Sarcoptic mange, caused by Sarcoptes scabiei var. canis, is a highly contagious and zoonotic ectoparasitic infestation affecting dogs worldwide. This study evaluated the occurrence of sarcoptic mange and compared the therapeutic efficacy of selamectin, sarolaner and ivermectin in affected dogs in and around Jabalpur, Madhya Pradesh, India. From May to October 2024, 269 dogs with dermatological affections suspected of sarcoptic mange were examined, with 13 dogs (4.83%) tested positive based on skin scrapings. Age-wise analysis revealed that young dogs (<1 year) exhibited a higher susceptibility to the condition (53.85%). Additionally, male dogs demonstrated a higher occurrence rate (61.54%) compared to females; however, this difference was not statistically significant. A therapeutic trial was conducted on 12 dogs diagnosed with S. scabiei infestations, divided into three treatment groups: Group 1 received ivermectin (0.4 mg/kg PO daily for 28 days), Group 2 received sarolaner (2 mg/kg PO on Day 0), and Group 3 received selamectin (6–12 mg/kg topical spot-on on Day 0). Dermatological signs and mite counts were monitored before and after treatment, including crusting, scaling, erythematous papules and pruritus. Mite counts significantly decreased in sarolaner (100%) and selamectin (100%) treated groups, compared to the ivermectin treated group (26.32%). Sarolaner and selamectin demonstrated superior efficacy in eliminating mites and resolving clinical signs. Sarolaner monthly oral administration and selamectin topical application provide practical, effective options for managing sarcoptic mange, especially for the generalized condition.

The Nutrient-Skin Connection: Diagnosing Eating Disorders Through Dermatologic Signs.

The interplay between nutrition and skin health provides a crucial lens for understanding, diagnosing, and managing eating disorders (EDs) such as anorexia nervosa (AN), bulimia nervosa (BN), and binge-eating disorder (BED). This review explores the dermatological manifestations resulting from the nutritional deficiencies commonly associated with EDs, including conditions like hair loss, xerosis, and brittle nails. These changes in the skin and its appendages often reflect deeper systemic dysfunctions, such as deficiencies in essential micronutrients (zinc, iron, and vitamins A and C), hormonal imbalances, and electrolyte disturbances. Recognizing these dermatological signs as diagnostic tools is vital for the early identification and intervention of EDs. By integrating dermatological observations with psychiatric and nutritional care, a holistic, multidisciplinary approach can be developed to address both the physical and psychological complexities of EDs. This review highlights the critical role of these skin-related markers in promoting timely diagnosis and effective treatment. To examine the relationship between specific nutrients and dermatological manifestations in EDs, a systematic review of three electronic databases-PubMed, Google Scholar, and ResearchGate-was conducted. The findings underline the importance of early recognition of these skin symptoms for effective management. Collaborative care involving dermatologists, psychiatrists, and nutritionists is essential for diagnosing and treating EDs. Such integrated efforts ensure a comprehensive approach to these multifaceted conditions, ultimately improving patient outcomes and enhancing overall care.

Investigating Clinical Risk Factors Contributing to the Recurrence of Idiopathic Granulomatous Mastitis

Background: Granulomatous mastitis (GM) is a chronic inflammatory disorder affecting breast tissue, with a high recurrence rate. Objectives: Regarding this impotence, this paper aims at proposing a retrospective approach to compile an extensive dataset of clinical information as well as to identify potential risk factors associated with GM recurrence. Methods: For this purpose, data on pathologically-confirmed cases of GM were retrospectively collected from the medical archives of the Shahid Beheshti Cancer Research Center, Iran, from March 2020 to February 2023. Then, the descriptive statistics were utilized to analyze demographic information, disease-related variables, patient-related variables, and details regarding treatment modalities. Evaluation of disease recurrence occurred 24 months following the initial GM diagnosis through clinical assessments, ultrasound, or mammography. Among the 100 accessible patients, 33 experienced recurrences within 24 months. Results: According to the obtained results, factors significantly associated with recurrence included body mass index (28.31 vs. 26.05), history of breastfeeding and its duration (22.44 months vs. 16.95 months) (90.9% vs. 72.7%), abortion, pain (72.7% vs. 46.3%), erythema nodosum (51.5% vs. 16.4%), hypertension (18.2% vs. 3%), thyroid disease (33.3% vs. 14.9%), rheumatologic disease (69.7% vs. 13.4%), dermal involvement (51.5% vs. 10.9%), joint involvement (85.9% vs. 39.4%), and the combined treatment modalities (45.5% vs. 11.9%). Moreover, the predictive model exhibited an overall accuracy of 83.3%. Conclusions: Finally, it can be concluded that abortion history, breastfeeding and its duration, combined treatment, pain, erythema nodosum, hypertension, thyroid or rheumatologic disease, dermatologic or joint signs, and Body Mass Index (BMI) could be the significant factors related to the recurrence of GM. Thus, special attention to these factors and management of baseline disease may have a predictive effect on the relapse of idiopathic granulomatous mastitis (IGM).

Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients.

Thyroid function plays a seminal role in the growth and development of children, and alterations in signaling pathways which interfere with the biosynthesis, transport, and metabolism of thyroid hormones might impact on the skin of such patients: this review explores the relationship between different thyroid disorders and dermatological manifestations with a particular focus on the pediatric population. Common cutaneous conditions associated with thyroid dysfunction may include chronic urticaria, vitiligo, and alopecia, which can be early harbingers of an underlying endocrine disruption. This review also highlights the growing cognizance of a "thyroid-skin axis", with thyroid hormones influencing many physiologic processes within the skin such as keratinocyte proliferation, hair growth, and epidermal differentiation. A precocious recognition of abnormal dermatological signs can be crucial in pediatric patients for a timely diagnosis before any development of complications and for personalized treatments of an underlying thyroid disorder, which can even be symptomless at an initial phase. Despite the lack of standardized guidelines for managing dermatologic manifestations occurring in thyroid diseases, a regular screening to identify endocrine dysfunction is recommended in those children who present chronic urticaria, vitiligo, or alopecia, though further research is needed to decipher mechanisms involved in the thyroid-skin partnership and develop more targeted management approaches.

Comment on Dutta Majumder et al.’s 2019 ‘Ocular Syphilis: An Update’

ABSTRACT The article ‘Ocular Syphilis: An Update (2019)’ provides a thorough review of the challenges in diagnosing ocular syphilis. However, our research on ‘Dermatological and Ocular Manifestations of Syphilis,’ identifies a significant gap in both literature and clinical practice: the lack of recognition of dermatological signs during ophthalmological assessments. Ocular syphilis often mimics other conditions and can remain undiagnosed for months or years. Detecting dermatological signs, such as the characteristic palmar rash of secondary syphilis and extragenital chancres, could prompt earlier investigation and serological testing, reducing unnecessary diagnostic workups and inappropriate management. Early recognition would facilitate timely administration of Penicillin G, helping prevent vision loss, which is often reversible with prompt treatment. We urge Ocular Immunology and Inflammation to highlight the importance of incorporating dermatological assessments in future ocular syphilis publications to improve diagnostic protocols and patient outcomes.

Pachydermoperiostosis: cosmetic implications in a multisystem genetic condition.

We present the case of a 17-year-old gentleman, initially referred to rheumatology with painful enlargement of his joints, along with prominence of facial features consistent with cutis verticis gyrata. Genetic testing confirmed a diagnosis of pachydermoperiostosis, a rare genetic condition characterised by digital clubbing, long bone periostosis and pachydermia. Our patient exhibited heterozygosity for the SLCO2A1 variant, which is known to confer more prominent skin and bone features than other known underlying mutations. His arthralgia caused significant functional impairment, but moreover there were concerns regarding the psychosocial impact of his cosmetic features, for which there appear to be few available medical therapies. As a multi-system genetic condition, pachydermoperiostosis is also known to be associated with other significant sequelae such as myelofibrosis and gastric ulceration, highlighting the importance of its early detection, which may be aided by the recognition of dermatological signs. In our patient's case, the concurrence of orthostatic hypotension and iron deficiency anaemia were concluded to be a function of restricted dietary intake due to his change in appearance, once again highlighting the cosmetic implications of this condition, and importance of further research into its medical management.

ROLE OF DUSHI VISHA IN SKIN DISEASES: A REVIEW

Background: Dushi Visha is one of the unique Agada Tantra concepts in Ayurveda. Visha is a chemical that vitiates all seven Dhatus and can also be fatal when ingested. Dushi Visha is the term used to describe any poison that comes from Sthavara or Jangama sources, or Kritrima Visha that is kept in the body after being partially expelled or that has temporarily undergone detoxification using anti-poisonous medications, etc. Aim: This study aims to understand the skin diseases caused by Dushi Visha. Material and methods: Reviewed from various Ayurvedic literature, websites, and relevant journals. Result: According to all Acharya, Dushi Visha is a slowacting poison that builds up in our bodies. Because of its low potency, it does not immediately induce illness; instead, chronic disease is brought on by repeated exposure to the toxin. Such collected Visha gives rise to numerous skin illnesses and vitiates Dhatu, especially Rakta Dhatu. Detoxification is the first treatment for Dushi Visha, which Dushivishari Agada Paana then follows. Discussion and conclusion: Skin illnesses are becoming increasingly significant today. The essential elements of life—air, food, and water—are all contaminated. Thus, Dushi Visha can be determined by considering aspects like Viruddhahara, Ahitaahara, cold beverages, specific medications, cosmetics, pesticides, metals, minerals, pollutants, etc. The body retains these cumulative toxins and exhibits many dermatological signs.

Signs in Dermatology: Clinical, Dermoscopic, and Histopathological

Abstract Dermatologic diagnosis depends on the careful observation and documentation of signs, which can be highly pathognomonic for a certain condition. Most of the signs appear either de novo or have to be elicited by the physician. It refers to important physical finding or observation made by the physician when examining the patient. In this article, we have included total 154 signs including clinical, dermoscopic, and histopathological signs. We have divided them in 13 groups including signs seen in infectious conditions, vesiculobullous disorders, papulosquamous disorders, dermatitis, connective tissue diseases, and diseases of appendages for the ease of readers.

Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists

Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.

Medidas de resultados comunicados por el paciente para evaluar la dermatitis atópica

Atopic dermatitis is a chronic skin condition that affects up to 20% of children and 10% of adults worldwide. Due to the high burden of dermatological signs and symptoms, atopic dermatitis has a significant impact on the quality of life of patients and their families. In the absence of objective measures to accurately assess severity and symptom burden, patient-reported outcome measures are essential to monitor the impact and progression of the disease, as well as the efficacy of treatments. Although there are currently no standardised guidelines for their use in clinical practice, there are some initiatives, such as the Harmonise Outcome Measures for Eczema and Vivir con Dermatitis Atópica, that can provide guidance. As healthcare systems move towards value-based healthcare models, patient-reported measures are becoming increasingly important for incorporating the patient perspective and improving the quality of healthcare services. The use of these measures can help monitor disease activity and guide treatment decisions. This article discusses the impact of atopic dermatitis and describes the patient-reported outcome measures commonly used in atopic dermatitis and the recommendations of the initiatives that have selected a core set of measures to best assess atopic dermatitis in clinical practice. Considering the recommendations of these initiatives and based on our experience in clinical practice, we propose the use of the Dermatology Life Quality Index to assess the impact of the disease on quality of life, the Patient-Oriented Eczema Measure to assess symptom severity, and the Numerical Rating Scale or the Visual Analogue Scale to measure itch intensity. To systematize the administration of these measures and to integrate them into hospital information systems and medical records, we emphasise the importance of telemedicine platforms that allow the electronic administration of these instruments.

Correlation Between the Type of Psoriasis and the Pattern of Arthritis Among Patients with Psoriatic Arthritis: A Single-center Cross-sectional Study

Background: Psoriatic arthritis (PsA) is an inflammatory condition linked to psoriasis. According to studies, there is little correlation between arthritic patterns and PsA. Objective: To find relationships between psoriasis symptoms and PsA arthritis patterns. Methods: 100 PsA patients were enrolled in a cross-sectional study at Baghdad Teaching Hospital from December 2021 to June 2022, using CASPAR criteria. We gathered thorough demographic and clinical information, examined arthritis patterns, classified them into five kinds, and evaluated eight types and sites of psoriasis. Disease activity was measured using clinical and psoriasis indicators. Results: a weak negative connection among 100 individuals with psoriatic arthritis, plaque psoriasis, and distal interphalangeal (DIP) arthropathy. Erythrodermic psoriasis and spondylitis (with or without sacroiliitis) showed a slight positive connection. There was also a slight positive association between scalp psoriasis and DIP arthropathy. A comparable positive and weak relationship was found between polyarthritis and age, as well as polyarthritis and psoriatic arthritis disease activity. In contrast, asymmetrical oligoarthritis and PsA disease activity had a modest negative connection. Furthermore, enthesitis and DIP arthritis showed a weak negative connection. Body mass index and spondylitis (with or without sacroiliitis) showed a positive and weak correlation. The most significant finding was a modestly favorable relationship between skin psoriasis and psoriatic arthritis disease activity. Conclusions: There are weak but significant associations between particular psoriasis types and locales and arthritis patterns in PsA patients. These findings point to the possibility of developing individualized therapeutic regimens for PsA that take into account both dermatological and rheumatological signs.

Feline leishmaniasis in an animal shelter in northeastern Brazil: Clinical aspects, coinfections, molecular detection, and serological study of a new recombinant protein

Infection and clinical cases of leishmaniasis caused by Leishmania infantum in cats have been increasingly reported in several countries, including Brazil. In this study, we used an enzyme-linked immunosorbent assay (ELISA) and an immunochromatographic test (ICT) based on a recombinant antigen (rKDDR-plus) to detect anti-Leishmania antibodies in cats from an animal shelter in northeastern Brazil. We compared the results with an ELISA using L. infantum crude antigen (ELISA-CA). We also investigated the presence of Leishmania DNA in blood or ocular conjunctival samples as well as the association between Leishmania PCR positivity and serological positivity to feline immunodeficiency virus (FIV), feline leukemia virus (FeLV) and Toxoplasma gondii. Concerning serological assays, a higher positivity was detected using the ICT-rKDDR-plus (7.5%; 7/93) as compared to ELISA-rKDDR-plus (5.4%; 5/93) and ELISA-CA (4.3%; 4/93). Upon PCR testing, 52.7% (49/93) of the ocular conjunctival swabs and 48.3% (44/91) of the blood samples were positive. Together, PCR and serological testing revealed overall positivities of 73.1% (68/93) and 12.9% (12/93), respectively. Among PCR-positive samples, 45.5% (31/68) showed co-infection with FIV, 17.6% (12/68) with FeLV, and 82.3% (56/68) with T. gondii. More than half of the PCR-positive cats showed at least one clinical sign suggestive of leishmaniasis (58.8%; 40/68) and dermatological signs were the most frequent ones (45.5%; 31/68). Both tests employing the recombinant antigen rKDDR-plus (i.e., ICT-rKDDR-plus and ELISA-rKDDR-plus) detected more positive cats than the ELISA-CA but presented low overall accuracy. PCR testing using either blood or ocular conjunctival samples detected much more positive cats than serological tests.

The Real-World Effectiveness and Tolerability of a Soothing Cream Containing the Postbiotic Aquaphilus dolomiae Extract-G2 for Skin Healing.

In vitro and pre-marketing clinical data have shown the healing properties of a postbiotic extract from Aquaphilus dolomiae (ADE-G2). The effectiveness and tolerability of an ADE-G2-based cream were therefore evaluated for the management of minor skin impairment and wound healing in a large population of subjects in routine clinical practice. A real-world, international, pre-post comparative study was conducted in infants, children, and adults with various types of superficial skin impairment who used the study product daily for around 3weeks according to their dermatologist's advice. Immediate and follow-up changes in dermatologic signs and symptoms were assessed through clinical scoring. User satisfaction, overall product effectiveness, and tolerability were also evaluated. Analyses were performed in the whole study population and in subject subgroups according to skin impairment type and age. Overall, 1317subjects (83.1% adults, 72.0% female) were included. Dermatologists reported effectiveness and "good" or "very good" tolerability of the cream in 93.8% (1221/1302) and 98.5% (1278/1297) of subjects, respectively. Immediate symptom relief after the first application was reported by 88.3% (849/962) of subjects. After several weeks of regular use (16.7 ± 11.6days), dermatologic signs and symptoms significantly improved in the whole study population and in the subgroups, with mean decreases in severity scores ranging from -34.5% to -92.5% (p < 0.0001). The smallest improvements were found in subjects with oncologic treatment-related skin impairment. At study end, most users (> 95%) were "very satisfied" or "satisfied" with the cream and found that skin healing was rapid and of good quality. The ADE-G2-based cream proved to be effective and well tolerated in real-life conditions for the management of minor skin impairment in a large and varied cohort of subjects. This product, used as a standalone or adjunctive regimen, can help accelerate the healing of various types of superficial skin impairment.

Development and internal validation of diagnostic prediction models using machine-learning algorithms in dogs with hypothyroidism.

Hypothyroidism can be easily misdiagnosed in dogs, and prediction models can support clinical decision-making, avoiding unnecessary testing and treatment. The aim of this study is to develop and internally validate diagnostic prediction models for hypothyroidism in dogs by applying machine-learning algorithms. A single-institutional cross-sectional study was designed searching the electronic database of a Veterinary Teaching Hospital for dogs tested for hypothyroidism. Hypothyroidism was diagnosed based on suggestive clinical signs and thyroid function tests. Dogs were excluded if medical records were incomplete or a definitive diagnosis was lacking. Predictors identified after data processing were dermatological signs, alopecia, lethargy, hematocrit, serum concentrations of cholesterol, creatinine, total thyroxine (tT4), and thyrotropin (cTSH). Four models were created by combining clinical signs and clinicopathological variables expressed as quantitative (models 1 and 2) and qualitative variables (models 3 and 4). Models 2 and 4 included tT4 and cTSH, models 1 and 3 did not. Six different algorithms were applied to each model. Internal validation was performed using a 10-fold cross-validation. Apparent performance was evaluated by calculating the area under the receiver operating characteristic curve (AUROC). Eighty-two hypothyroid and 233 euthyroid client-owned dogs were included. The best performing algorithms were naive Bayes in model 1 (AUROC = 0.85; 95% confidence interval [CI] = 0.83-0.86) and in model 2 (AUROC = 0.98; 95% CI = 0.97-0.99), logistic regression in model 3 (AUROC = 0.88; 95% CI = 0.86-0.89), and random forest in model 4 (AUROC = 0.99; 95% CI = 0.98-0.99). Positive predictive value was 0.76, 0.84, 0.93, and 0.97 in model 1, 2, 3, and 4, respectively. Negative predictive value was 0.89, 0.89, 0.99, and 0.99 in model 1, 2, 3, and 4, respectively. Machine learning-based prediction models were accurate in predicting and quantifying the likelihood of hypothyroidism in dogs based on internal validation performed in a single-institution, but external validation is required to support the clinical applicability of these models.

Clinical risk factors in patients with interstitial lung disease associated with anti-MDA5 autoantibodies

IntroductionThe anti-MDA5-associated autoimmune disease represents a poorly understood entity. The study's objectives were to describe a cohort of interstitial lung disease (ILD) patients who were positive for anti-MDA5 autoantibody and identify clinical risk factors associated with survival. MethodsThis single-center cohort study included ILD patients positive for anti-MDA5 autoantibody. Baseline clinical features were registered, and survival analysis was performed to identify risk factors associated with worse survival. ResultsFifty-three ILD-MDA5 positive patients were included; twelve died during follow-up due to rapidly progressive interstitial lung disease (RP-ILD). Dermatological signs of anti-MDA5 (Gottron papules, Gottron sign, palmar papules, V-neck sign, facial dermatomyositis rashes, and skin ulcers) were strongly associated with death secondary to RP-ILD (HR: 3.7, 95% CI: 1.02–13.35). Patients with dermatological signs were younger, had higher anti-MDA5 autoantibodies titers, more frequent inflammatory patterns in HRCT evaluation, and less fibrosis extent in HRCT. ConclusionDermatological manifestation in ILD patients to anti-MDA5 autoantibodies are associated with RP-ILD and short-term fatal outcomes. Dermatological signs may identify a subgroup of ILD-positive to anti-MDA5 patients with a high risk of RP-ILD.

Dermatitis herpetiformis and other forms of wheat sensitivity

Wheat sensitivity is acollective term for several, especially gastrointestinal, diseases that occur as part of ahypersensitivity reaction after wheat consumption. The symptoms, which are mostly similar to those of irritable bowel syndrome, are often accompanied by skin lesions. In addition to celiac disease and dermatitis herpetiformis, the cutaneous manifestation of celiac disease, wheat sensitivity also includes nonceliac gluten sensitivity (NCGS), allergic nickel contact mucositis, wheat allergy, amylase-trypsin inhibitor intolerance, and fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) intolerance. This review article aims to provide an overview of the clinical, especially dermatological and gastrointestinal features of the different forms of wheat sensitivity. Diagnosis and therapeutic management are also discussed. Aselective literature search was carried out with evaluation of our own clinical data. The skin lesions in dermatitis herpetiformis are very disease-specific. In contrast, wheat allergy often shares signs and symptoms with many other diseases. Other forms of wheat sensitivity cause primarily gastrointestinal abnormalities, but extra-intestinal manifestations can also occur. Their diagnosis is often complex and requires cross-disciplinary collaboration with experts in gastroenterology. The therapy consists of awheat- or gluten-free diet. Knowledge of the different and frequently occurring dermatological signs of wheat sensitivity is of great importance, because dermatological manifestations associated with gastrointestinal pathology, intolerance reactions, and allergies appear more and more frequently.

Dental Management in Children with Incontinencia Pigmenti (Bloch-Sulzberger Syndrome): Case Reports and Literature Review

Introduction: Incontinentia Pigmenti (IP) is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. Skin alterations are the main characterestic of IP. They can change and even disappear over time, in contrast, dental ones are permanent and considered as the most frequent extra cutaneous signs. The aim of this work is to present two rare clinical reports of Incontinentia Pigmenti and to adress its frequent orofacial manifestations in the dental litterature. Case Reports: In this paper, we report two clinical cases of incontinencia pigmenti in two female patients, five and nine years old, who were first examined by a dermatologist due to skin changes and then referred to our pediatric dentistry department in la Rabta hospital for oral examination. We managed these cases in collaboration with the pediatric department. We also conducted a research in the following electronic databases: PubMed and google scholar using the following keywords: ("Incontinentia Pigmenti" AND "Child" AND "Tooth Abnormalities”), from 2011 to 2021, to compare dental findings in our patients with literature. Discussion: The most representative dental features of IP are: delayed tooth eruption, agenesis, high arched palate, peg like and malformed teeth, affecting both primary and permanent teeth. Therapeutic management of our patients consisted in the replacement of absent teeth with an aesthetic and functional space maintainer. The assessment of orofacial manifestations in Children with Bloch Sulzberger syndrome indicates that it appears almost exclusively in females and is usually lethal in males. The clinical expression of this disease found in our patients reflects the Data reported in the literature. The latter showed that the presence of symptoms other than skin changes is important if dermatological signs are subtle, which is in accordance with both our patients’ clinical expression. The most relevant finding of this review is the observation that most IP patients with odontological findings had the congenital absence of six or more teeth opposed to our second patient who had only one absent tooth. Conclusions: Incontinencia pigmenti is of a good prognosis but it may affect patients' quality of life hence the importance of knowing this syndrom and its oro-facial characteristics in order to obtain a correct diagnosis and apply an appropriate approach treatment.

P20.03.A PREDICTING THE CLINICAL PHENOTYPE INNF2 RELATED SCHWANNOMATOSIS PATIENTS USING NEW GENETIC SCORES

Abstract BACKGROUND NF2 related Schwannomatosis (NF2 -SCHW MIM # 101000) is a rare autosomal dominant familial cancer syndromes caused by mutations in the NF2 gene, mainly due to NF2 point mutations or intragenic deletions. NF2 patients. In 95% of patients, bilateral vestibular schwannomas are present, but NF2 -SCHW patients can develop other tumors and show ophthalmic and dermatological signs. Several studies established a genotype-phenotype correlations; the UK NF2 Reference Group proposed a Genetic Severity Score (GSS) based on the type and location of NF2 germline variant observed. Catasus et al. after validation of the score in a Spanish cohort suggested a new score based also on a functional assay of Merlin and its downstream pathways (FGSS). Recently Teranish et al. used targeted deep sequencing to predict functional prognosis in those patients. MATERIAL AND methods 70 patients (median age 40) were identified by scanning the electronic NF2-SCHW patient database at Fondazione IRCCS C. Besta, where the patients had undergone full neurological, ophthalmic, and audiological assessment. The median follow-up was 14 yrs. Clinical diagnosis was established following the Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis”. All patients underwent NF2, SMARCB1 and LZTR1 mutational screening by NGS and MPLA analysis using blood DNA or the tissue of two different tumors when available.NF2 gene germline pathogenic were found in 45 subjects (64%), in most cases NF2 point mutations, but in 4 cases and whole gene deletions was observed and in 2 a ring NF2 chromosome was identified, in four cases a mosaic NF2-SCH was identified and in 21 (30%) patients no pathogenic variant was found. We assessed NF2-SCHW clinical phenotype in relation to the UK GSS and FGSS to validate their use as clinical and research tools, despite the significant phenotypic variability observed. RESULTS The disease outcome differed significantly depending both on clinicaland genetic factors. Among these factors,” Age of symptom onset” “Truncating”, “Mosaic”, and “whole gene deletion” had the most significant effects on functional disability. Conclusion GSS and FGSS showed significant correlation with several measures, allowing stratification of patients with severe and mild disease but not with moderate phenotype. Furthermore, we provided evidence on correlation between whole NF2 deletion extent and phenotype severity. Large cohorts of NF2-SCHW patients are needed to identify more accurate scores, becoming useful tools for patient management.

Clinical risk factors in patients with interstitial lung disease associated with anti-MDA5 autoantibodies

IntroductionThe anti-MDA5-associated autoimmune disease represents a poorly understood entity. The study's objectives were to describe a cohort of interstitial lung disease (ILD) patients who were positive for anti-MDA5 autoantibody and identify clinical risk factors associated with survival. MethodsThis single-center cohort study included ILD patients positive for anti-MDA5 autoantibody. Baseline clinical features were registered, and survival analysis was performed to identify risk factors associated with worse survival. ResultsFifty-three ILD-MDA5 positive patients were included; twelve died during follow-up due to rapidly progressive interstitial lung disease (RP-ILD). Dermatological signs of anti-MDA5 (Gottron papules, Gottron sign, palmar papules, V-neck sign, facial dermatomyositis rashes, and skin ulcers) were strongly associated with death secondary to RP-ILD (HR: 3.7, 95% CI: 1.02–13.35). Patients with dermatological signs were younger, had higher anti-MDA5 autoantibodies titers, more frequent inflammatory patterns in HRCT evaluation, and less fibrosis extent in HRCT. ConclusionDermatological manifestation in ILD patients to anti-MDA5 autoantibodies are associated with RP-ILD and short-term fatal outcomes. Dermatological signs may identify a subgroup of ILD-positive to anti-MDA5 patients with a high risk of RP-ILD.