Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa.

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a serious, ultra-rare, genetic blistering disease that requires a multidisciplinary care team and lifelong, proactive disease management. To organize and optimize care, we comprehensively examined diagnoses, healthcare use, and annual costs in patients with DEB across all healthcare settings. METHODS: A retrospective study was performed using electronic health record (EHR) data from Optum Clinical Database (January 1, 2016, through June 30, 2020). Patients with an epidermolysis bullosa (EB) diagnosis between July 1, 2016, and December 31, 2019, with ≥ 6 months of baseline and 12 months of follow-up activity were included. Patients were stratified by EB type: recessive DEB (RDEB), dominant DEB (DDEB), DEB (type unknown), and EB unspecified. Demographics, comorbid conditions, and healthcare resource utilization were identified from EHR data. Cost of bandages and total medical costs (US$) were identified from linked claims data. RESULTS: A total of 412 patients were included, classified as having DDEB (n = 17), RDEB (n = 85), DEB (type unknown; n = 45), and EB unspecified (n = 265). Mean age was 38.4 years, and 41.7% had commercial insurance coverage. The most common comorbidities were mental health disorders, malnutrition, and constipation. Rates of cutaneous squamous cell carcinoma ranged from 0% (DDEB) to 4.4% (RDEB). Prescriptions included antibiotics (56.6%), pain medications (48.3%), and itch medications (50.7%). On average, patients had 19.7 ambulatory visits during the 12-month follow-up, 22.8% had an emergency department visit, and 23.8% had an inpatient stay. Direct medical costs among patients with claims data (n = 92) ranged from $22,179 for EB unspecified to $48,419 for DEB (type unknown). CONCLUSIONS: This study demonstrated the range of comorbidities, multiple healthcare visits and prescription medications, and treatment costs during 1 year of follow-up for patients with DEB. The results underscore that the clinical and economic burden of DEB is substantial and primarily driven by supportive and palliative strategies to manage sequelae of this disease, highlighting the unmet need for treatments that instead directly address the underlying pathology of this disease.

The Merkel Cell Carcinoma Patient Registry: From Promise to Prototype to Patient.

The Merkel Cell Carcinoma (MCC) Patient Registry is a national multi-institutional collaborative effort that will prospectively follow and record outcomes and events in MCC patients. MCC is the prototypical rare tumor, and this Registry will trail blaze new methodologies that will enable multiple investigators to examine real world outcome data in real time. Deliverables from the Registry include precise patient stratification into risk categories, identification of best practices, real-world data for drug development programs, revelations about optimal sequence and combinations therapies, uncovering low incidence toxicities, and the generation of novel testable hypotheses. Importantly, the Registry offers a way forward in the yet-unsolved dilemma of drug development for rare tumors, since the Registry's design will allow the creation of highly defined patient-level data that can be used as a robust comparator for single arm phase I and II clinical trials. The MCC Task Force comprises members from academic medical centers, the drug industry, the National Institutes of Health, and the US Food and Drug Administration. Project Data Sphere, LLC provides a secure, open-access data sharing platform and comprehensive support to optimize research performance and ensure rigorous and timely results. The Registry is currently in development and is based on a REDCap database integrated into the host institution's electronic medical record. We plan to have the first patient accessioned on Project Data Sphere's data platform in the second quarter of 2022. Members of the MCC Registry Task Force represent a joint effort of research and clinical investigators from academia, industry and regulatory science to develop the first publicly held MCC registry on Project Data Sphere's open-access data platform. Our hope is that this shared repository will allow investigators to identify new approaches, improve treatment outcomes, shorten the time from discovery to implementation and, ultimately, improve patient lives.

Characteristics and comorbidities of Medicare beneficiaries receiving care from Mohs micrographic surgeons based on fellowship training and practice setting.

The characteristics and medical conditions of patients being managed by Mohs micrographic surgeons (MMS) have not been extensively established. In this cross-sectional review of 2017 Medicare Public Use data, we compared patient demographics and medical comorbidities among dermatologists billing for MMS based on surgeon fellowship training and practice settings. Overall patient complexity, as measured through Medicare's Hierarchical Condition Category (HCC) score, did not significantly differ by fellowship training status. However, among fellowship-trained surgeons, those in academic centers managed a higher proportion of dual Medicare-Medicaid beneficiaries (9.4% versus 5.4%, P<0.0001) with higher mean HCC scores (1.33 versus 1.13, P<0.0001). Depression and chronic kidney disease were notably more common among academic beneficiaries. These findings help to establish the patient complexity distribution among dermatologic surgeons, which may have important implications for perioperative management and monitoring given the growing prevalence of skin cancer and other medical comorbidities.

Increasing Access to High Value Care: Preventing Complications in Common Disorders.

Most infantile hemangiomas (IHs), the most common vascular tumors of childhood, evolve without complications; however 10% to 12% require specialty referral for treatment. To emphasize the complications of late referral, we present a case of necrotizing infection within a segmental IH leading to sepsis. Early evaluation by a pediatric dermatologist could have prevented this life-threatening and disfiguring complication. We discuss how teledermatology would enable rapid triage of such critical cases in underserved areas, increasing access to high-value care and optimizing outcomes for our most vulnerable patients.

Patients with Hidradenitis Suppurativa Have a High Psychiatric Disease Burden: A Finnish Nationwide Registry Study.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease of hair follicles that is associated with various comorbidities. To further clarify the associations between HS and psychiatric disorders, we conducted a nationwide retrospective study that included 4,381 patients with HS, and 39,554 with psoriasis and 43,248 with melanocytic nevi as controls. Patient data were obtained from the statutory Finnish Care Register for Health Care. The incidence of HS was 3.0/100,000 persons/year. At least one psychiatric diagnosis was found in 24.1% of the patients with HS compared with 19.1% of the patients with psoriasis (odds ratio 1.34; 95% confidence interval 1.24-1.46) and 13.5% of those with melanocytic nevi (odds ratio 2.04; confidence interval 1.88-2.22). Every mental disorder examined was significantly more frequent in HS than in the two other groups. Mental disorders were more common in women than in men with HS and psoriasis. The main finding of our study is that patients with HS have a higher risk of mental disorders than patients with psoriasis. Additionally, this study reveals that HS is associated with both schizophrenia (odds ratio 1.57; confidence interval 1.24-1.98) and bipolar disorder (odds ratio 1.81; confidence interval 1.47-2.23), findings that to our knowledge have not been reported previously.

Longitudinal Perioperative Pain Assessment in Head and Neck Cancer Surgery.

OBJECTIVE: To evaluate perioperative pain in patients undergoing major head and neck cancer surgery and identify associations between preoperative and postoperative pain characteristics. METHODS: Patients undergoing head and neck surgery with regional/free tissue transfer were enrolled. Preoperative pain and validated screens for symptoms (neuropathic pain, anxiety, depression, fibromyalgia) were assessed. Postoperatively, patients completed a pain diary for 4 weeks. RESULTS: Twenty-seven patients were enrolled. Seventy-eight percent had pain prior to surgery, and for 38%, the pain had neuropathic characteristics. Thirteen patients (48%) completed at least 2 weeks of the postoperative pain diary. Patients with moderate/severe preoperative pain report significantly greater pain scores postoperatively, though daily pain decreased at a similar linear rate for all patients. Patients with more severe preoperative pain consumed greater amounts of opioids postoperatively, and this correlated with daily postoperative pain scores. Patients who screened positive for neuropathic pain also reported worse postoperative pain. CONCLUSION: Longitudinal perioperative pain assessment in head and neck patients undergoing surgery suggests that patients with worse preoperative pain continue to endorse worse pain postoperatively and require more narcotics. Patients with preoperative neuropathic pain also report poor pain control postoperatively, suggesting an opportunity to identify these patients and intervene with empiric neuropathic pain treatment.

TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma.

Recent massive parallel sequencing data have evidenced the genetic diversity and complexity of Sézary syndrome mutational landscape with TP53 alterations being the most prevalent genetic abnormality. We analyzed a cohort of 35 patients with SS and a control group of 8 patients with chronic inflammatory dermatoses. TP53 status was analyzed at different clinical stages especially in 9 patients with a past-history of mycosis fungoides (MF), coined secondary SS. TP53 mutations were only detected in 10 patients with either primary or secondary SS (29%) corresponding to point mutations, small insertions and deletions which were unique in each case. Interestingly, TP53 mutations were both detected in sequential unselected blood mononuclear cells and in skin specimens. Cytogenetic analysis of blood specimens of 32 patients with SS showed a TP53 deletion in 27 cases (84%). Altogether 29 out of 35 cases exhibited TP53 mutation and/or deletion (83%). No difference in prognosis was observed according to TP53 status while patients with secondary SS had a worse prognosis than patients with primary SS. Interestingly, patients with TP53 alterations displayed a younger age and the presence of TP53 alteration at initial diagnosis stage supports a pivotal oncogenic role for TP53 mutation in SS as well as in erythrodermic MF making TP53 assessment an ancillary method for the diagnosis of patients with erythroderma as patients with inflammatory dermatoses did not display TP53 alteration.

Melanoma-associated leukoderma and vitiligo cannot be differentiated based on blinded assessment by experts in the field.

BACKGROUND: Melanoma-associated leukoderma (MAL) is a depigmenting disorder that can occur spontaneously in patients with melanoma. The differences in clinical presentation between MAL and vitiligo are not well defined. This may lead to misdiagnosing MAL as vitiligo, resulting in delayed detection of melanoma. OBJECTIVE: The objective of this study was to assess whether experts in the field can distinguish between MAL and vitiligo, and to assess if discriminative features can be identified. METHODS: We designed an image comparison study in which 4 experts in the field blindly assessed photographs followed by medical history of 11 patients with MAL and 33 with vitiligo. RESULTS: The assessors misdiagnosed 72.7% of MAL cases and marked 80.0% of them as typical vitiligo. The median age at onset of the leukoderma was higher (55 years, P = .001) in MAL. No discriminative features were found. LIMITATIONS: Sampling bias because of inclusion in tertiary referral center is a limitation. CONCLUSION: The clinical presentation of leukoderma in patients with melanoma resembles that of vitiligo. We propose "melanoma-associated vitiligo" as the more appropriate term for leukoderma in patients with melanoma. Clinicians should be aware that depigmentation in vitiligo can also be caused by melanoma-associated vitiligo and a total body inspection should be performed.

Subcutaneous panniculitis like T cell lymphoma associated with erythromelalgia.

Erythromelalgia is a rare disorder that simulates a small fiber neuropathy and patients often have painful erythematous extremities during episodes. It is of two types: A primary or inherited form that is sometimes associated with a Na channel mutation or a secondary disorder associated with an underlying systemic disorder. We present a 19-year-old boy who presented to us with erythromelalgia and a febrile illness with systemic rash. Detailed work-up revealed another unusual condition: Subcutaneous panniculitis like T cell lymphoma (SPTCL). This is the first report of an association of erythromelalgia with SPTCL.

In vivo reflectance confocal microscopy assessment of the therapeutic follow-up of cutaneous T-cell lymphomas causing scalp alopecia.

Cutaneous T-cell lymphomas involving the scalp and determining scarring alopecias are difficult to be followed up during treatment because of the peculiar anatomical site of onset. In vivo reflectance confocal microscopy has already been reported to be useful for cutaneous T-cell lymphoma evaluation and for therapeutic follow-up in inflammatory skin conditions. We describe a case of a 26-year-old man affected by cutaneous T-cell lymphoma affecting the scalp in which reflectance confocal microscopy demonstrated to be useful for in vivo evaluation of the therapeutic response to topical and systemic treatment.

Prospective assessment of lymphedema incidence and lymphedema-associated symptoms following lymph node surgery for melanoma.

We aimed to prospectively assess limb volume change (LVC) and associated symptoms in patients with melanoma undergoing sentinel lymph node biopsy and/or therapeutic lymph node dissection. Limb volume was measured preoperatively and postoperatively at 6 and 12 months using a perometer (1000 mol/l). LVC was calculated and used to define three groups: less than 5%, 5-10%, and greater than 10%. A 19-item lymphedema symptom questionnaire was administered at baseline, 6, and 12 months. One hundred and eighty-two patients were enrolled. Twelve months after axillary surgery, 9% had LVC 5-10% and 13% had LVC greater than 10%. Twelve months after inguinofemoral surgery, 10% had LVC 5-10% and 13% had LVC greater than 10%. There was a significant seven- to nine-fold increase in symptoms for patients with LVC greater than 10% compared with those with LVC less than 5% (P<0.05). On multivariate analysis, therapeutic lymph node dissection versus sentinel lymph node biopsy (odds ratio=3.18; P<0.01) and borderline significance for lower-extremity versus upper-extremity procedures (odds ratio=1.72; P=0.07) were associated with LVC greater than 5%. LVC greater than 5% is common at 12 months following nodal surgery for melanoma and is associated with symptoms. Informed consent for melanoma patients undergoing lymph node surgery should include a discussion of the risks of postoperative lymphedema.

In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients.

Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by blistering following mechanical trauma. Chronic wounds of EB patients often lead to tumors such as squamous cell carcinoma (SCC). Early diagnosis may prevent its invasive growth--frequently the reason of premature mortality of EB-patients. Early detection of tumors is achieved by fluorescence diagnosis (FD), where photosensitizers localize selectively in tumors and fluoresce upon illumination. Excessive accumulation of photosensitizers in inflamed areas, as occasionally found at chronic wounds and tumors due to inflammatory processes, leads to false-positive results in FD. This study analyzed accumulation kinetics of the photosensitizers hypericin and endogenous protoporphyrin IX (PpIX) in different skin cell lines including the three EB subtypes under normal and proinflammatory conditions (stimulated with TNF-alpha). The aim was to assess the applicability of FD of SCC in EB. All cell lines accumulate hypericin or PpIX mostly increasing with incubation time, but with different kinetics. SCC cells of recessive dystrophic EB (RDEB) accumulate less hypericin or PpIX than nonmalignant RDEB cells. Nevertheless, tumor selectivity in vivo might be existent. Non-EB cell lines are more active concerning photosensitizer enrichment. Proinflammatory conditions of skin cell lines seem to have no major influence on photosensitizer accumulation.

[Pilonidal disease is a benign condition]. / Pilonidalsygdom er en benign lidelse.

Malignant transformation in pilonidal disease is rare and never reported in Denmark. There are 75 cases in the literature, mostly squamous cell carcinoma. The cost-benefit of routine histological examination of specimens from pilonidal surgery is questionable, as malignancy is extremely rare. Due to increased incidence of cancer, specimens from patients with many years of pilonidal disease, known immunodeficiencies and/or human papillomavirus infection or clinical abnormal presentation, should always be investigated.

Coping strategies in melanoma patients.

An observational, questionnaire-based, cross-sectional study was performed to assess whether differences in coping behaviour (positive and negative strategies) between patients with either a recent diagnosis of malignant melanoma (MM) or with benign dermatological disease, were predictive of the diagnosis. Coping strategies were assessed with the German version of the stress-coping questionnaire (SVF 120) in 46 inpatients for whom surgery was planned at the Department of Dermatology, Medical University of Graz, Austria. Subjects were divided into two groups: patients with non-metastatic MM, and patients with benign dermatological diseases (controls). The risk for the diagnosis "melanoma" decreased with higher values of "situation control" (p = 0.007) and increased with higher values of resignation (p = 0.035) and trivialisation (p = 0.039). More-over, the risk for having a MM with thickness > 1 mm decreased in patients with higher values in positive coping strategies (p < 0.34). These results suggest differences in coping behaviour between patients with MM and those with benign skin diseases and, amidst patients with MM, between patients with different MM thickness; the results may hence lead to earlier, more specific and more effective psychological interventions to improve coping in patients with MM, as differences in coping behaviour seem to appear even in the non-metastatic stage of the disease.

The social and psychological impact of hard-to-heal wounds.

Hard-to-heal wounds typically present a huge challenge to the clinical team charged with their treatment. Wounds that are extremely painful and/or unsightly can have an extreme psychological impact on the patient, and this can be as crucial a consideration as the complexities involved in managing the physical healing. While resource expenditure on hard-to-heal wounds can be quantified, quality of life is less easy to evaluate, but is clearly of paramount importance to the patient. This article examines the experience of a woman treated for basal cell carcinoma of the scalp--both the immediate emotional impact of the individual stages of treatment and the wider impact on her lifestyle and her family. In addition, it considers the case from the perspective of a key member of the clinical team in order to present a rounded account of the cae study from a human perspective. The woman was finally healed using an advanced wound care product, Xelma®. The objectives of the study were to revisit a case study featured in a recent article (Bond et al, 2009) to provide an update on outcomes and to examine the case from the human perspective; to consider the impact of key clinical decisions on the patient's state of mind and emotions,and on the practicalities of everyday life; and to examine the ase from the perspective of a key clinician.

Melanoma survivorship: research opportunities.

INTRODUCTION: The rising incidence and mortality rates of melanoma, the most fatal form of skin cancer, are among the greatest increases of all preventable cancers over the past decade. However, because of recent advances in early detection, secondary prevention efforts, and treatment, the number of melanoma survivors is increasing. Little research has been conducted on melanoma survivors and important opportunities exist for research in this understudied population. Here, we outline the important research opportunities related to the study of melanoma survivorship and summarize the paucity of literature currently available. MATERIALS AND METHODS: A computerized literature search was performed of the MEDLINE database of the National Library of Medicine from 1966-2005. The scope of the search was limited to those studies published in English. The search was conducted using the following MeSH headings: melanoma, neoplasms, skin neoplasms, survival, and survival rate. The reference lists of relevant book chapters and review articles were further reviewed, and printed materials from recent scientific meetings addressing this topic were obtained. RESULTS: Several factors that affect melanoma survivors warrant further study, including: physiologic long-term effects; psychosocial, behavioral, and cognitive factors; demographic characteristics; surveillance practices; recurrences, secondary primaries, and other cancers; family members of survivors; and economic issues, access to health care/life insurance. CONCLUSIONS: Understanding recurrence and second primary cancer risk, psychosocial and cognitive characteristics, behaviors, surveillance patterns, economic sequelae, and family issues of melanoma survivors is important from a public health standpoint to promote the health and well-being of this cohort. IMPLICATIONS FOR CANCER SURVIVORS: Melanoma is an understudied cancer, and the incidence and mortality of this disease are increasing. Describing the long term burden of this cancer and identifying factors that contribute to them will facilitate efforts to develop responsive secondary prevention strategies.