Identification of a Robust Methylation Classifier for Cutaneous Melanoma Diagnosis.

Early diagnosis improves melanoma survival, yet the histopathological diagnosis of cutaneous primary melanoma can be challenging, even for expert dermatopathologists. Analysis of epigenetic alterations, such as DNA methylation, that occur in melanoma can aid in its early diagnosis. Using a genome-wide methylation screening, we assessed CpG methylation in a diverse set of 89 primary invasive melanomas, 73 nevi, and 41 melanocytic proliferations of uncertain malignant potential, classified based on interobserver review by dermatopathologists.

Utility of TERT Promoter Mutations for Cutaneous Primary Melanoma Diagnosis.

Telomerase reverse transcriptase (TERT) promoter mutations are commonly found in malignant melanomas but rare in melanocytic nevi. To assess its potential diagnostic utility for the distinction of melanoma from nevus, we determined the TERT promoter mutation status of 86 primary melanomas, 72 melanocytic nevi, and 40 diagnostically problematic melanocytic proliferations. Of the 86 melanomas, 67 (77.

The performance of telescoping fat pad biopsies for detecting systemic amyloidosis: a four and a half year retrospective analysis and brief review of the fine needle aspiration literature.

Systemic amyloidosis has historically been diagnosed by organ biopsy and Congo red staining, with reported sensitivities that exceed 90%. The abdominal fat pad fine needle aspiration (FNA), introduced in the 1970's, carries sensitivity estimates largely derived from studies with deficiencies. Patient follow-up is often unclear and proportionally low numbers of patients are verified as true negatives.

Hair Follicle Nevus Located on the Chin of an Infant: Case Report and Review of Literature.

Hair follicle nevi are rare, benign, congenital hamartomas that usually occur in the distribution of the first brachial arch. Histopathologically, the distinction between hair follicle nevus, trichofolliculoma, and accessory tragus has recently come into question, and it may be that they are all on a spectrum of the same condition. We report the case of a 7-day-old boy who presented with a "tag"-like lesion on his midline chin that had been present since birth.

Incidental finding of cutaneous meningeal heterotopia in aplasia cutis congenita.

Aplasia cutis congenita and cutaneous meningeal heterotopia are both rare congenital conditions that most commonly occur on the scalp and may appear clinically and histologically similar. A subtype of aplasia cutis congenita, membranous aplasia cutis congenita, and cutaneous meningeal heterotopia are both proposed to result from neural tube closure errors. However, neither non-membranous nor membranous aplasia cutis congenita are known to occur together with cutaneous meningeal heterotopia in the same lesion.

Imiquimod-induced subacute cutaneous lupus erythematosus-like changes.

Imiquimod is a topical immunomodulator used to treat genital warts and cutaneous malignancies that exerts its effects via induction of proinflammatory cytokines through activation of toll-like receptor (TLR) 7. Although subacute cutaneous lupus erythematosus (SCLE) has been reported in association with multiple systemic medications, SCLE in patients treated with topical agents has not been widely reported. We report the case of a 50-year-old woman with local induction of lesions that clinically and histologically resembled SCLE following treatment with topical imiquimod.

Mucosal pemphigus vulgaris anti-Dsg3 IgG is pathogenic to the oral mucosa of humanized Dsg3 mice.

There are two major clinical subsets of pemphigus vulgaris (PV)-mucosal PV (mPV) and mucocutaneous PV (mcPV). The mPV subset exhibits anti-human desmoglein (Dsg) 3 autoantibodies that fail to recognize murine Dsg3 (mDsg3); thus, passive transfer experiments of mPV IgG into wild-type (WT) mice have been unsuccessful at inducing disease. We therefore generated a fully humanized Dsg3 (hDSG3) murine model utilizing a hDsg3 transgenic animal crossed to the mDsg3 knockout line.

Dermatomyositis as a presentation of neuromyelitis optica spectrum disorder.

Importance: This is the first report of neuromyelitis optica spectrum disorder (NMOSD) associated with dermatomyositis (DM).

Report: A 40year-old Caucasian female presented with 6months of worsening fatigue, rash, acute weakness worse in her lower extremities, and urinary retention. She was found to have both NMOSD and anti-melanoma differentiation-associated gene (MDA)5 positive DM with interstitial lung disease (ILD).

9 tips to help prevent derm biopsy mistakes.

The authors--with expertise in dermatology and pathology--provide pointers that can help you improve your approach to skin biopsy.

Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma.

Unlabelled: NRAS mutation at codons 12, 13, or 61 is associated with transformation; yet, in melanoma, such alterations are nearly exclusive to codon 61. Here, we compared the melanoma susceptibility of an NrasQ61R knock-in allele to similarly designed KrasG12D and NrasG12D alleles. With concomitant p16INK4a inactivation, KrasG12D or NrasQ61R expression efficiently promoted melanoma in vivo, whereas NrasG12D did not.

Validation of the VE1 immunostain for the BRAF V600E mutation in melanoma.

Background: BRAF mutation status, and therefore eligibility for BRAF inhibitors, is currently determined by sequencing methods. We assessed the validity of VE1, a monoclonal antibody against the BRAF V600E mutant protein, in the detection of mutant BRAF V600E melanomas as classified by DNA pyrosequencing.

Methods: The cases were 76 metastatic melanoma patients with only one known primary melanoma who had had BRAF codon 600 pyrosequencing of either their primary (n = 19), metastatic (n = 57) melanoma, or both (n = 17).

Case report of drug rash with eosinophilia and systemic symptoms demonstrating human herpesvirus-6 reactivation.

Drug rash with eosinophilia and systemic symptoms (DRESS) is a severe drug-induced hypersensitivity syndrome that presents with diffuse cutaneous eruptions, fever, and multiorgan involvement. Here we present a pediatric case of DRESS complicated by human herpesvirus (HHV)-6 reactivation. After 1 week of sulfasalazine, our patient developed a diffuse morbilliform eruption.

Squamous cell carcinoma of the lip associated with adalimumab therapy for ankylosing spondylitis: a case report and review of TNF-α inhibitors and cutaneous carcinoma risk.

Adalimumab is an anti-tumor necrosis factor α (TNF-α) agent approved for the treatment of ankylosing spondylitis (AS); psoriatic arthritis; and moderate to severe cases of rheumatoid arthritis (RA), plaque psoriasis, Crohn disease, ulcerative colitis, and polyarticular juvenile idiopathic arthritis. Evidence suggests that anti-TNF-α agents may increase a patient's risk for some types of cancers, including cutaneous squamous cell carcinoma (SCC). Cutaneous nonmelanoma skin cancers (NMSCs) have occurred during treatment with etanercept, infliximab, and adalimumab in the setting of RA and psoriasis, but data related to AS are less clear.

Superimposed methicillin-resistant Staphylococcus aureus infection of vulvar eczematous dermatitis: a case report.

Background: Vulvar eczematous dermatitis predisposes patients to superimposed infections, which may result in late diagnosis and architectural destruction. Methicillin-resistant Staphylococcus aureus (MRSA) infection is on the rise in genitalia and lower extremities.

Case: A 44-year-old woman presented with recurrent vulvar lesions and pain.

Metastatic spiradenocarcinoma occurring in an 8-year-old boy.

We recently saw the case of an 8-year-old boy with histologic findings of spiradenocarcinoma. Malignant adnexal tumors in children are exceedingly rare, and cases of spiradenocarcinoma in children are absent in the literature. We report the case of an 8-year-old boy with metastatic spiradenocarcinoma.

Granuloma annulare arising in association with pulmonary coccidioidomycosis.

Granuloma annulare (GA) is a reactive process in the dermis, related to degeneration of collagen. It may occur as an idiopathic phenomenon or in conjunction with a myriad of systemic conditions, including infectious disease. We report an interesting case of GA precipitated by pulmonary coccidioidomycosis.

Cutaneous meningioma.

Cutaneous meningioma is a rare tumor that most commonly occurs on the scalp and occurs in both congenital and acquired forms. It invokes a wide clinical differential diagnosis, but diagnosis is based on characteristic histologic and cytologic findings. Congenital lesions can often present years after birth and even in adult patients.

The "Fringe Sign" - A useful clinical finding in traction alopecia of the marginal hair line.

Introduction: Traction alopecia is hair loss caused by prolonged or repetitive tension on the hair. Diagnostic challenges are encountered when the clinical suspicion is not high and when a history of traction is remote or not obtained. We have made the observation that the presence of retained hairs along the frontal and/or temporal rim, which we termed the "fringe sign," is a finding seen in both early and late traction alopecia, and may be a useful clinical marker of the condition.

Erratum: Cutaneous Spitzoid melanoma in a very young girl of Asian descent.

[This corrects the article DOI: 10.1136/bcr.09.