Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity-dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype-phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and ADNP defects.

Attitudes among dermatologists regarding actinic keratosis treatment options.

Actinic keratosis (AK) is considered a precancerous lesion that can develop into invasive squamous cell carcinoma. Its prevalence is increasing, and it is estimated that it affects between 1% and 44% of the adult population worldwide. Advanced age, fair skin phototypes, and cumulative sun exposure are the main risk factors for AK. Therapies for AK consists of lesion-directed treatment (i.e., cryotherapy, curettage, electrocoagulation, and laser therapy) or field therapy [i.e., photodynamic therapy (PDT), 5-fluorouracil (5-FU), diclofenac sodium (DIC), imiquimod (IMQ), and ingenol mebutate (Ing Meb)]. The type of therapy chosen is determined by the number and location of AKs, the patient's condition, and the patient's tolerability and compliance. In this survey, we collected information from 110 Italian dermatologists about their knowledge and attitudes toward various AK therapeutic approaches. In our study, we discovered that cryotherapy and PDT are the most used treatments for AK, while surgery and laser therapy are the least commonly used. The most commonly used topical therapies are DIC and IMQ 3.75 percent cream, followed by IMQ 5 percent cream, Ing Meb, and 5-FU. The correct treatment for AK can be difficult to choose, but adherence to therapy is critical for good results. Given the high and continuing rise in the incidence of AK, dermatologists' knowledge of various therapeutic approaches is critical.

Quality of life in caregivers of melanoma patients

Background: The impact of melanoma on quality of life (QoL) is not limited to the patient but may also affect caregivers. Objectives: To investigate the impact of melanoma on caregivers' QoL. Materials & Methods: Caregivers of melanoma patients were recruited at the melanoma unit of our hospital. The impact on caregivers' QoL was measured using the Family Dermatology Life Quality Index (FDLQI). Results: Data were collected for 120 caregivers, of whom 51.7% were men and the mean age was 56.9 years. Breslow thickness of melanoma was <0.8 mm in 70.8% of cases. Mean FDLQI score was 5.7 (SD: 2.4). Among the single items of the FDLQI, the highest mean score corresponded to emotional distress. The impact on QoL was greater when the caregiver was a son/daughter, and increased relative to the age of the patient and number of years since diagnosis. Conclusion: To our knowledge, this is the first study to quantitatively evaluate the impact of melanoma on caregivers. Such impact was not negligible and mostly concerned emotional aspects. Caregivers need to be supported by structured educational and psychological interventions.

Melanoma on tattoos: a case study and review of the literature

Background: Decorative tattooing is a very widespread and constantly increasing practice, especially among young people. Objectives: Here, we report a case study of melanoma occurring on a tattoo on the left arm and provide an overview of all cases reported so far. Materials & Methods: A systematic literature search of publications was conducted from inception to September 2021 via Medline (PubMed), Scopus and Google Scholar, in order to identify all cases of primitive melanomas arising on tattoos. Results: In total, 35 cases (32 males, three females) of melanoma arising on tattoos on skin were identified. Interestingly, most melanomas occurred on dark blue (10/35), black (12/35) or blue tattoos (3/35). Conclusion: Due to the low number of melanoma cases arising on tattoos, it is not possible to confirm whether tattoos play a cancerogenic role. However, tattooing may make it more difficult to detect and monitor pigmented lesions, potentially delaying the diagnosis of cutaneous malignancies. Patients at high risk of melanoma should be warned about the risks associated with such procedures.

Pleomorphicskin eruptions in a COVID-19 affected patient: Case report and review of the literature.

The coronavirus disease (COVID-19), during its course, may involve several organs, including the skin with a petechial skin rash, urticaria and erythematous rash, or varicella-like eruption, representing an additional effect of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, as commonly observed in other viral diseases. Considering that symptomatic patients with COVID-19 generally undergo multidrug treatments, the occurrence of a possible adverse drug reaction presenting with cutaneous manifestations should be contemplated. Pleomorphic skin eruptions occurred in a 59-year-old Caucasian woman, affected by a stable form of chronic lymphocytic leukemia, and symptomatic SARS-CoV-2 infection, treated with a combination of hydroxychloroquine sulfate, darunavir, ritonavir, sarilumb, omeprazole, ceftriaxone, high-flow oxygen therapy devices, filgrastim (Zarzio®) as a single injection, and enoxaparin. The patient stopped all treatment but oxygen and enoxaparin were continued and the patient received a high-dose Desametasone with complete remission of dermatological impairment in 10 days. It is very important to differentially diagnose COVID-19 disease-related cutaneous manifestations, where is justified to continue the multidrug antiviral treatment, from those caused by an adverse drug reaction, where it would be necessary to identify the possible culprit drug and to start appropriate antiallergic treatment.

Systemic Photoprotection in Skin Cancer Prevention: Knowledge among Dermatologists.

BACKGROUND: Systemic photoprotection (i.e., administration of substances such as nicotinamide, carotenoids, and vitamin D) may be important to reduce photocarcinogenesis or to support long-term protection against UV irradiation. Clinical trials showed that oral nicotinamide is effective in reducing the onset of new nonmelanoma skin cancers (NMSCs), while other oral photoprotectors failed to achieve the reduction of new melanoma or NMSC formation in humans. The aim of this study was to summarize the current state of knowledge of systemic photoprotection and to evaluate the knowledge and attitude of dermatologists regarding these treatments. METHODS: The survey was conducted on a sample of dermatologists recruited according to a snowball sampling procedure. The questionnaire consisted of a first part asking for characteristics of the participant and a second part with 12 specific questions on their knowledge about systemic photoprotection, particularly their knowledge of astaxanthin, ß-carotene, nicotinamide, and vitamin D3. RESULTS: One hundred eight dermatologists answered the survey. Most of them (85.2%) stated that oral photoprotectors have a role in the prevention of skin cancer, and responses mainly mentioned nicotinamide. More than half of them (54.6%) had prescribed all the considered oral photoprotectors, but the majority of them had prescribed nicotinamide, mainly for 2 to 3 months during summer, almost invariably (n = 106) associated with topical photoprotectors. Most dermatologists (>80%) were aware of scientific publications demonstrating an effect of systemic photoprotectors on NMSC. CONCLUSIONS: Most Italian dermatologists have positive views on oral photoprotection in skin cancer and are aware of the demonstrated potential of nicotinamide in the prevention of NMSCs.

Scarce knowledge of systemic photoprotection among skin cancer patients: a cross-sectional survey.

BACKGROUND: The incidence of both melanoma and non-melanoma skin cancers (NMSC) is increasing worldwide and these tumours have become an important health issue. Topical and systemic photoprotection are the cornerstone to decrease the incidence of these tumours. OBJECTIVES: The aim of this study was to collect information about the knowledge of patients with a history of NMSC or melanoma regarding systemic photoprotection. MATERIALS & METHODS: This study was based on a multicentre survey. Standardized, self-administered questionnaires were collected from September 2019 to December 2019 in NMSC and melanoma units, as well as the general dermatology outpatient clinic for the control group. RESULTS: A total of 375 patients were enrolled in two Italian centres. The level of knowledge regarding systemic photoprotection was relatively scarce and was greater in: female patients; patients with normal weight and lighter hair, eye color and skin phototype; patients with a higher educational level; patients with non-cancerous skin conditions; and those who used sunscreens more frequently. CONCLUSIONS: A very low level of knowledge of systemic photoprotection was identified among skin cancer patients.

Attitudes among dermatologists regarding non-melanoma skin cancer treatment options.

Non-melanoma skin cancers include basal and squamous cell carcinoma. These tumors have become an important health issue for their high incidence and for the morbidity, especially if untreated for a long period. Over the last 20 years, therapeutic approaches for these tumours have been improved and tailored. In this survey we provided data from one hundred and ten Italian dermatologists regarding knowledge and attitude towards different therapeutic approaches on non-melanoma skin cancers. In our study, we observed that surgery and imiquimod 5% cream were the most used treatment by dermatologists for basal cell carcinoma, while, surgery was the most common treatment for cutaneous squamous cell carcinoma. Furthermore, we observed some differences regarding the prescribed therapies in the different Italian geographical areas (i.e., Mohs' surgery and electrochemotherapy were more frequently used in Northern compared to Central and Southern Italy whereas immunotherapy was more used in Southern compared to Northern and Central Italy) and even considering the year of specialization of the dermatologists (i.e., immunotherapy with cemiplimab was prescribed mainly by dermatologists with 10-19 years of specialization). However, for locally advanced and metastatic forms of basal and squamous cell carcinoma, Hedgehog Pathway Inhibitors and anti- Programmed cell death protein antibody treatment, respectively, were used in line with the newest evolution of therapies regarding this topic. Considering the importance of skin cancers and its progressive increase in incidence, it is crucial to improve the knowledge of different therapeutic approaches among dermatologists.

High melanoma risk in non-melanoma skin cancer patients under age 40: a large retrospective cohort study.

BACKGROUND: Patients with a history of non-melanoma skin cancer (NMSC) are at increased risk for other primary cancers, in particular for cutaneous melanoma. However, rarely such studies are able to identify age-specific risks due to the lack of statistical power. The aim of this study was to compare the risk of melanoma development within age groups in a large cohort of NMSC patients and in a control group of non-dermatological patients. METHODS: A retrospective linkage analysis was performed between records of hospitalizations and the occurrence of melanoma was compared within 10-year age group by computing the relative risk (RR) and modeled using multiple logistic regression. RESULTS: The linkage procedures identified 30,929 individuals with NMSC and 25,956 control patients. Overall, NMSC patients had RR for melanoma of 6.2 compared to controls. Patients with NMSC and less than 40 years of age have a RR of melanoma of 25.1 compared to controls. Our study is a retrospective analysis, and our ICD-9 codes do not distinguish between basal cell carcinoma and squamous cell carcinoma, nor between subtypes of melanoma. CONCLUSIONS: Our large study suggests that prevention of melanoma in NMSC patients is mandatory, especially for patients which develop a NMSC under 40 years of age.

Age-specific physical and mental health status in Italian patients with hidradenitis suppurativa: a comparison with the general population.

Hidradenitis suppurativa (HS) has a considerable impact on quality of life. Despite comparisons of health status between HS patients and the general population have been done, there is a need to make more meaningful comparisons, such as age-specific ones. The objective of the study was to compare age-specific physical and mental health status in Italian patients with HS to that of a representative sample of the Italian general population. We conducted a cross-sectional, observational study on consecutive HS patients. Patients' health status was measured using the 36-item Short Form Health Survey (SF-36) and in the general population using the 12-item version (SF-12). The mean scores of the physical component summary (PCS) and the mental component summary (MCS) from the two instruments were graphically compared in different age categories according to sex and clinical severity. Data were complete for 298 HS patients. Young patients with HS reported a physical and mental health status similar to that of elderly people from the general population. Even HS patients with mild-to-moderate clinical severity had a consistently worse health status than the reference population. In conclusion, HS deeply affects patients' physical and mental status, starting from a very young age. An early intervention is advisable, not only with pharmacological treatment, but also with an appropriate discussion and interaction with the patient to focus on the aspects that would reduce the psychosocial impact of their condition.

[The integrated care pathway for non melanoma skin cancer: the Istituto Dermopatico dell'Immacolata - IRCCS experience in Rome.] / Il percorso diagnostico-terapeutico e assistenziale nella gestione del paziente affetto da tumore cutaneo non melanocitario: l'esperienza dell'IDI - IRCCS di Roma.

The incidence of non-melanoma skin cancers (NMSC) is increasing worldwide and these skin cancers have become an important health issue. An integrated care pathway (ICP) is a multidisciplinary outline of anticipated care, placed in an appropriate timeframe, to help a patient with a specific condition. The aim of this paper is to define the ICP for patients affected by NMSC referring to the Istituto Dermopatico dell'Immacolata - IRCCS of Rome and Villa Paola, Italy. This ICP is multidisciplinary and included various specialists like dermatologist, oncologist, general surgeon, plastic surgeon, anatomopathologist, molecular biologist and epidemiologist. This ICP is based on the most recent acquisitions in the literature, referring in particular to the national (EADO and SIDEMAST) and international guidelines (EDF and NCCN). We firstly valued the current practice for patients affected by NMSC referring to our Institute to define the multidisciplinary process map. This process delineated the activities and the responsibilities performed during delivery of care to the patients and the potential problem areas or opportunities for improvements. Subsequently, we defined the final ICP process. This ICP of NMSC represents an innovative strategy to provide high quality healthcare. This allows to ensure all the necessary procedures for the patient, optimizing the "continuum" of care and the use of health services, and improving the organization of the Institute regarding an important health issue.

Correlation between Depression, Quality of Life and Clinical Severity in Patients with Hidradenitis Suppurativa.

Depression is frequent in patients with hidradenitis suppurativa. However, its relationship with quality of life and clinical severity needs further investigation. In this cross-sectional study, 341 adult, consecutive patients with hidradenitis suppurativa completed the 12-item General Health Questionnaire (GHQ-12), which has been shown to be able to identify cases of major depressive disorder in dermatological patients. The frequency of depression in hidradenitis suppurativa patients was 29.0%. In patients with depression, severity (International Hidradenitis Suppurativa Severity Score System (IHS4)), quality of life (Skindex-17; Dermatology Life Quality Index (DLQI)), and health status (36-item Short Form Health Survey (SF-36)) were significantly worse compared with patients with no depression. The highest linear correlation was observed between GHQ-12 and the psychosocial scale of the Skindex-17 and the SF-36 mental scale. In contrast, correlation between GHQ-12 and clinical severity was poor. Depression is an important comorbidity in hidradenitis suppurativa, which is strongly associated with impairment in quality of life, but not linearly correlated with clinical severity.

The Broad-Spectrum Impact of Hidradenitis Suppurativa on Quality of Life: A Comparison with Psoriasis.

BACKGROUND/AIM: Hidradenitis suppurativa (HS) is a chronic skin disease with a heavy impact on patients' quality of life (QoL). The aim of this study was to evaluate in detail the QoL impact of HS comparing it with other skin conditions, and in particular with psoriasis. METHODS: Patients with a diagnosis of HS were recruited. QoL was measured using the Skindex-17 questionnaire. RESULTS: Data were available for 69 HS patients. HS had the worst QoL among several skin conditions. Compared to psoriasis the mean symptom score was 69.4 versus 53.7, and the mean psychosocial score was 56.1 versus 32.7. Overall, the scores of patients with HS were higher than those of psoriasis patients on 16 of the 17 items of the Skindex-17. CONCLUSIONS: When compared to many different skin conditions, and in particular to psoriasis, HS was the most impairing condition, even at low levels of clinical severity.

A screening programme for dermatologists as a guide to request psychological consultation in routine clinical practice.

BACKGROUND: The psychosocial impact of skin conditions is usually evaluated in research settings. OBJECTIVES: To define predictors that can be used by dermatologists to refer patients for psychological consultation or psychotherapy using a simple screening instrument. MATERIALS & METHODS: A questionnaire to evaluate possible anxiety and depression (12-item General Health Questionnaire [GHQ-12]) was routinely used over a period of two months in an Italian dermatological reference centre. RESULTS: Of 651 patients, 508 (78%) completed the GHQ-12. Of the total sample, 35.2% scored 4 or more (psychological consultation suggested), and 15.7% scored 7 or more (psychological consultation recommended). Probable depression or anxiety was more frequent in women than in men, in patients born in foreign countries, and in patients with leg ulcers, pemphigoid, and psoriasis. CONCLUSION: Our results indicate that a simple instrument may be useful for dermatologists to detect patients at risk of psychological problems and subsequently refer them for psychological consultation.