Response to topical corticosteroid monotherapy in mycosis fungoides.

BACKGROUND: Topical corticosteroids alone or in combination with other therapies are widely used to treat mycosis fungoides (MF), but data on response rates to their use as monotherapy in MF are limited. OBJECTIVE: To evaluate the efficacy of topical corticosteroid monotherapy in MF; compare sex, age, stage distributions, and histopathologic features between responders and nonresponders. METHODS: A retrospective cross-sectional review of patients with MF from 2013 to 2019 treated at Thomas Jefferson University was conducted. Patients with biopsy-proven MF, all stages, who received topical corticosteroid monotherapy were included. Response rates were determined by percent change in body surface area (BSA) involvement and modified Severity-Weighted Assessment Tool (mSWAT). RESULTS: Of the 163 patients with MF in our database, 23% (37/163) initially received topical steroid monotherapy. Of these, 73% (27/37) improved, with an average 65% decrease in BSA (67% in mSWAT); 27% (10/37) did not respond/progressed, with an average 51.6% increase in BSA (57% in mSWAT); and 33% (12/37) had a complete response (BSA, 0%) with prolonged topical steroid use. Early-stage MF and female sex were more represented in responders. LIMITATIONS: Single-center retrospective design. CONCLUSIONS: Topical steroid monotherapy in early-stage MF can produce measurable improvements in BSA and mSWAT scores and achieve complete remission in a limited subset of patients.

Linear basal cell nevus with a novel mosaic PTCH1 mutation.

The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome. Rarely, BCCs may develop in a linear pattern along lines of Blaschko due to cutaneous mosaicism. In cases in which there are other features of Gorlin syndrome, genomic analysis has demonstrated lesional mutations in the Hedgehog signalling pathway. Causative mutations, however, have not been firmly demonstrated in the cases of linear and segmental BCCs in otherwise healthy individuals. Herein, we report a case of a 31 year-old Caucasian woman with linear development of multiple superficial BCCs in a Blaschkoid distribution without other characteristic findings of Gorlin syndrome. Genomic analysis of lesional skin by whole-exome sequencing identified a novel heterozygous mutation PTCH1: NM_000264.3, Exon 15, c.2336-2337insGGTAGGA, p.Asp779Glufs*13 in PTCH1, shared by two discrete samples within the lesion, while no mutations were found in the non-lesional skin or peripheral blood. Given the young age of our patient and linear distribution of BCCs on non-sun exposed skin, our findings suggest segmental mosaicism. The patient was treated with topical 5% imiquimod with histologically confirmed clearance of BCCs in 2 months.

Public social media consultations for dermatologic conditions: an online survey.

The use of social media in medicine has been increasingly studied in recent years, especially concerning its role in patient outreach, education, diagnosis, and management. Dermatology is a unique field in that patients can post photographs of their skin ailments when seeking online medical advice and information. This study examines the role of public social media consultations for dermatologic conditions. A large portion of patients utilize social media for dermatologic consultations and many do not seek care from a dermatologist afterward. Future studies should trend this phenomenon, especially as the use of social media continues to expand.

Molluscum contagiosum infection with features of primary cutaneous anaplastic large cell lymphoma.

CD30+ T cell pseudolymphomas (CD30+ PSL) are a group of benign inflammatory cutaneous disorders that can develop in settings of viral infections or drug reactions. Owing to their histological similarities to malignant lymphomas, these benign infiltrates are occasionally misdiagnosed as malignant, causing significant concerns for patients and physicians. Herein, we report a patient with CD30+ PSL associated with molluscum contagiosum whose initial biopsy revealed atypical large CD30-expressing cells, leading to a misdiagnosis of primary cutaneous anaplastic large cell lymphoma and referral to our cutaneous lymphoma clinic. We report this case to demonstrate that reactive CD30+ infiltrate associated with molluscum contagiosum can be mistaken for T-cell lymphomas and patients should be reassured in these cases.

Impaired wound healing secondary to bevacizumab.

Bevacizumab is a monoclonal antibody that exerts its antitumor activity by inhibiting vascular endothelial growth factor. Consequently, it suppresses endothelial cell proliferation, vascular permeability, and angiogenesis. This inhibitory effect contributes to tumour size reduction but causes wound-healing delay, specifically during the proliferative phase, in patients receiving bevacizumab. Although surgical wound-healing complications (WHC) associated with bevacizumab have been extensively reported, there is limited literature on peripheral WHC. More importantly, the histopathology of bevacizumab-associated WHC has not been described. We present the histopathology findings of a non-healing ulcer in a patient receiving bevacizumab, providing insight into the possible aetiology of this drug's adverse reaction. Furthermore, our patient's positive response to hyperbaric oxygen suggests its possible use for treatment of bevacizumab-associated non-healing wounds.

Comparative FAIRE-seq analysis reveals distinguishing features of the chromatin structure of ground state- and primed-pluripotent cells.

Both pluripotent embryonic stem cells (ESCs), established from preimplantation murine blastocysts, and epiblast stem cells (EpiSCs), established from postimplantation embryos, can self-renew in culture or differentiate into each of the primary germ layers. While the core transcription factors (TFs) OCT4, SOX2, and NANOG are expressed in both cell types, the gene expression profiles and other features suggest that ESCs and EpiSCs reflect distinct developmental maturation stages of the epiblast in vivo. Accordingly, "naïve" or "ground state" ESCs resemble cells of the inner cell mass, whereas "primed" EpiSCs resemble cells of the postimplantation egg cylinder. To gain insight into the relationship between naïve and primed pluripotent cells, and of each of these pluripotent states to that of nonpluripotent cells, we have used FAIRE-seq to generate a comparative atlas of the accessible chromatin regions within ESCs, EpiSCs, multipotent neural stem cells, and mouse embryonic fibroblasts. We find a distinction between the accessible chromatin patterns of pluripotent and somatic cells that is consistent with the highly related phenotype of ESCs and EpiSCs. However, by defining cell-specific and shared regions of open chromatin, and integrating these data with published gene expression and ChIP analyses, we also illustrate unique features of the chromatin of naïve and primed cells. Functional studies suggest that multiple stage-specific enhancers regulate ESC- or EpiSC-specific gene expression, and implicate auxiliary TFs as important modulators for stage-specific activation by the core TFs. Together these observations provide insights into the chromatin structure dynamics accompanying transitions between these pluripotent states.

Cutaneous Mucinosis Associated with Beckwith-Wiedemann Syndrome.

A 37-year-old man presented with firm, skin-colored papules and nodules on his back and chest, which had been appearing during the past 7 years (Figure 1a). The patient denied any associated pruritus, pain, or ulcerations. Further history revealed he had a repaired omphalocele during childhood. Physical examination revealed a large body habitus, with asymmetric overgrowth of the right extremities when compared to the left. In addition, the patient had bilateral anterior linear earlobe creases, preauricular pits, and posterior helical pits (Figure 1b). There was no evidence of rheumatologic and endocrine disorders or paraproteinemia.

Skindex-29 scores indicate poor quality of life in early stage mycosis fungoides.

BACKGROUND: Questionnaire tools are increasingly being used to assess health related quality of life (HRQOL) in mycosis fungoides (MF) patients. However, a thorough understanding of the factors that lead to poor HRQoL in early stage disease and their distribution across patient subgroups is lacking. OBJECTIVES: To characterize factors affecting HRQoL as assessed by Skindex-29 in subgroups of patients with early stage MF seen at a multidisciplinary cutaneous lymphoma clinic. METHODS: Skindex-29, a multidimensional survey that evaluates HRQoL (emotions, symptoms, function), was distributed to early stage MF patients. Overall and component scores were analyzed in three groups: no evidence of disease (NED), active disease with limited early stage (AD-T1), and active disease with more extensive early stage (AD-T2). Scores were also compared among patients receiving different treatment modalities. RESULTS: 56 patients (9 NED, 36 AD-T1, and 11 AD-T2) were enrolled in the study. Overall Skindex-29 scores and scores for individual dimensions were comparable among the three sub-groups. Similarly, these scores did not significantly differ among treatment groups or after removal of patients with previous staging higher than IB. Analysis of individual questions revealed that NED patients reported higher scores for questions pertaining to anger and fatigue. CONCLUSIONS: Early stage MF patients enrolled in this study had high overall Skindex-29 scores. Surprisingly, Skindex-29 scores of NED patients were comparable to those of patients with active disease, T1 and T2, mostly due to anger and fatigue. Even when skin involvement is minimal or absent, MF patients continue to report impaired HRQoL.

Revisiting Imiquimod for Treatment of Folliculotropic Mycosis Fungoides: A Case Report and Review of the Literature.

Folliculotropic mycosis fungoides (FMF) is an aggressive variant of mycosis fungoides (MF) characterized by infiltration of the hair follicle epithelium by neoplastic T cells. FMF demonstrates poor response rates to standard skin-directed therapies such as phototherapy and topical corticosteroids. Imiquimod, an immunomodulatory agent that stimulates the antitumor immune response, has been used successfully in treatment of early-stage MF. We report a 21-year-old patient with unilesional FMF who achieved clinical remission with imiquimod application. This case highlights a potential for use of imiquimod as a treatment option for patients with FMF and limited skin involvement.

Immune evasion and current immunotherapy strategies in mycosis fungoides (MF) and Sézary syndrome (SS).

Mycosis fungoides (MF) and Sézary syndrome (SS) are two well-characterized skin limited and leukemic subtypes of cutaneous T-cell lymphoma (CTCL), respectively. Progressive global immune dysfunction and a multitude of specific immunological abnormalities have long been recognized as features of MF and SS. Therefore, a variety of immune-based therapies have been explored and used in the clinic for decades in the attempt to restore the immune imbalance in these malignancies. With recent advances in the development of novel immunotherapies in cancer treatment, new treatment modalities have emerged to complement the existing repertoire. Herein, we provide a comprehensive review of immune evasive mechanisms in MF/SS and summarize the established and emerging immunotherapies for these malignancies. We explain the underlying mechanisms of these immune-based therapies and derive recommendation from results of major clinical trials.