Sun-exposed Areas Research Articles

Noninvasive Assessment of Epidermal Genomic Markers of UV Exposure in Skin

The measurement of UV-induced DNA damage as a dosimeter of exposure and predictor of skin cancer risk has been proposed by multiple groups. Although UV-induced mutations and adducts are present in normal-appearing UV-exposed epidermis, sampling normal nonlesional skin requires noninvasive methods to extract epidermal DNA for analysis. Here, we demonstrate the feasibility of such an approach, termed surfactant-based tissue acquisition for molecular profiling. Sampling in patients was performed using a felt-tip pen soaked in a mixture of surfactants (Brij-30/N-decyl-N,N-dimethyl-3-ammonio-1-propanesulfonate). In mice, we show that the epidermis can be selectively removed without scarring, with complete healing within 2 weeks. We exposed hairless mice to low-dose UV radiation over a period of 3 months and serially sampled them through up to 2 months following the cessation of UV exposure, observing a progressive increase in a UV signature mutational burden. To test whether surfactant-based tissue acquisition for molecular profiling could be applied to human patients, samples were collected from sun-exposed and sun-protected areas, which were then subjected to high-depth targeted exome sequencing. Extensive UV-driven mosaicism and substantially increased mutational loads in sun-exposed versus sun-protected areas were observed, suggesting that genomic measures, as an integrated readout of DNA damage, repair, and clonal expansion, may be informative markers of UV exposure.

Disseminated Superficial Actinic Porokeratosis in the Elderly: A Case Report

Abstract Currently, most authors believe that disseminated superficial actinic porokeratosis (DSAP) is an inherited or acquired dermatologic disorder of keratinization that occurs in genetically predisposed individuals after adequate exposure to ultraviolet (UV) rays, or immunosuppression. Lesions in DSAP start in sun-exposed areas most commonly in the third or fourth decade of life. The lesions are pink to brownish papules and plaques with a raised scaling ridge, histologically seen as a column of parakeratotic keratinocytes, the cornoid lamella. DSAP is not only the most common, but also the most often overlooked form of porokeratosis (P). Here we present a 77-year-old male with DSAP, who sporadically developed initial skin lesions at the age of 67, at the time when his personal and medical history were significantly long for chronic intensive sun exposure and type 1 insulin dependent diabetes mellitus. We established the diagnosis of DSAP based on personal and medical history, clinical presentation, auxiliary methods such as dermoscopy, and confirmed with pathohistological findings. We advised the patient to avoid sun exposure and to apply photo-protective sunscreens, emollients and keratolytics. After five years of monitoring his changes, we continue to control his lesions for any possible alteration. Although mutations in several genes and data on sun exposure may be responsible for the onset of the disease, most cases of DSPA occur sporadically and without involving the facial skin, as in our case. Lesions usually begin in the third or fourth decade of life. In the elderly, an additional trigger may be present, such as e.g. age-related decreased immune competence. Diabetes mellitus may also be associated with immunodeficiency in the elderly. Recently, DSPA has been a special subtype of DSPA in the elderly. Malignant alteration can occur in DSPA, most commonly in lesions that are long lasting, large, in the elderly, or in lesions in immunocompromised individuals. In conclusion, this is the case of a 77-year-old male person, who sporadically developed the so-called subtype DSPA in the elderly. In addition to UV radiation, the relevant suggestive trigger factors were the immunosuppressive effects of diabetes mellitus and chronological aging.

Recent updates in the management of Merkel Cell Carcinoma.

Merkel cell carcinoma is an aggressive non-melanomatous cutaneous tumour of neuroendocrine origin with an increasing incidence in the recent years. It is a tumour of the elderly and immunosuppressed, which most often appears on sun-exposed areas of the body. The clinical features of the cutaneous or subcutaneous lesions hardly contribute to the diagnosis, and, hence, histopathology and immunohistochemistry play a vital role in diagnosis. The latest staging system by the American Joint Committee on Cancer includes non-nodal invasion to adjacent structures i.e. bone, muscle, fascia, or cartilage into the criteria, in additionto size and depth of invasion. The management reliesheavily on a multidisciplinary approach due to rarity of incidence of this disease. According to the international guidelines, surgical management is still the preferred choice. The beneficial role of adjuvant radiotherapy has now been more clearly documented. Data is insufficient to assess whether chemotherapy improves disease-free or overall survival.

A clinical and dermatoscopic study of melasma

Melasma is an acquired hypermelanosis that occurs exclusively in sun-exposed area mostly on face and rarely on the neck and forearms. It is more common in women and in Asians. Exact pathogenesis remains elusive, however, genetic predisposition and ultraviolet light exposure seem to play an important role.The aim of this study was to evaluate facial melasma clinically and dermatoscopically and to compare the consistency of the findings with respect to each type of melasma. Dermatoscopy is increasingly being used for diagnosis of pigmentary disorders other than malignancy. Hospital based cross sectional descriptive study. Study was conducted in the Dermatology department of Yenepoya Medical College and Hospital on 110 patients during the period of December 2016 to June 2018.Clinical examination includes standard dermatological examination along with Wood’s lamp and dermatoscopic examination (Detailed format attached).Heine Delta 20 plus Dermatoscope was used for evaluation of the lesions.: A total of 110 patients with clinical diagnosis of melasma attending the Department of dermatology in Yenepoya medical college were studied during a period of 18 months. Maximum number of patients (35.5%) belonged to the age group between 31 and 40 years. Study showed a female preponderance (69.1%) . On the basis of Fitzpatrick skin type, patients with Type IV (90%). With respect to occupation housewives (60%) and manual labourers /farmers (25.5%) formed the majority indicating chronic sunexposure to be a leading cause for melasma. Patients having Centrofacial pattern predominated with 59.1% of the total. In 43.6% of the women cycles were regular, 5.45% had irregular cycles and 20.9% of the women had attained menopause. We found that 66.4% of the patients had a moderate MASI score. Under Wood’s lamp examination patchy enhancement was seen in 56.4% of the patients indicating a mixed pattern. Among the various patterns observed reticuloglobular pattern dominated our study with 85.45% of patients being positive for the pattern. In our study patients presented with some additional features under dermatoscopy namely telangiectasia (36.1%), followed by depigmentation (24.5%). On the basis of dermatoscopy, 64.5% predominantly showed an epidermal pattern.Dermoscopy serves as useful tool in assessing the type of melasma based on the MASI score.

Melasma and thyroid profile: A case control

Melasma is one of the common hyper pigmentation disorders presenting with symmetrical brownish black patches on sun-exposed areas. Many studies have been conducted to determine the relationship between Melasma and thyroid autoimmunity. to evaluate the relationship between thyroid profile and Melasma patients A case control study was carried out evaluating thyroid status (serum T3, T4 and TSH) in 50 patients with Melasma and 50 individuals without Melasma. Statistical analysis was done. a total of 100 patients including both men and women were enrolled in the study. The age group was 20-50 years. The F: M ratio was 7:1 in both cases and controls. Five (5) patients in the Melasma group and three (3) patients in the control group showed hypothyroidism. There is a suspicion in associating Melasma and thyroid disorders.

Pigmented basal cell carcinoma: a rare variant at a rare site

<p>Basal cell carcinoma (BCC), is a most common malignancy reported in the western world. It arises most often in sun-exposed areas (80-85%) especially head and neck consistent with the etiologic role of solar radiation. However, there are atypical localizations such as abdomen, perianal region, groin that require a higher index of suspicion to arrive at the correct diagnosis. Exposure to sunlight is thought to be most responsible etiological factor of BCC, although trauma and scar tissue have also been implicated as possible etiological causes. It has a cure rate of 100% with early diagnosis and surgical excision. Pigmented BCC is a rare clinical and histological variant of BCC that exhibits increase pigmentation. We present a case of rare variant of basal cell carcinoma of abdominal location over a prior surgical scar.</p><p class="Body"> </p>

Where in the World Did You Get That Rash?

1. Panteha Eshtiaghi, HBSc* 2. Miriam Weinstein, MD, FRCPC† 1. *Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada 2. †Hospital for Sick Children, Toronto, Ontario, Canada * Abbreviations: ACD: : allergic contact dermatitis CD: : cercarial dermatitis CL: : cutaneous leishmaniasis CLM: : cutaneous larva migrans DF: : dengue fever HFMD: : hand, foot, and mouth disease HSV: : herpes simplex virus KD: : Kawasaki disease PCR: : polymerase chain reaction PR: : pityriasis rosea RT-PCR: : reverse transcriptase polymerase chain reaction The challenge to diagnose cutaneous eruptions and lesions in patients who have spent time in foreign countries is increasingly common. With the advent of increased global travel, foreign adoptions, immigration, and refugee seekers, rashes that were once relegated to the realm of the exotic and likely to show up in a tropical diseases clinic may now present to a general pediatrician. Furthermore, the pediatric traveler is at increased risk for dermatoses. (1) It behooves the practitioner to be aware of these skin findings, to be able to recognize them and distinguish them from other skin conditions. After completing this article, readers should be able to: 1. Identify and classify rashes by main morphologic patterns. 2. Develop a broad differential diagnosis and diagnostic approach for a rash in a returned pediatric traveler based on initial morphology, history, epidemiology, and other clinical features. 3. Consider both infectious and noninfectious causes of skin disorders presenting in a patient with a travel history. 4. Outline the basic investigations and principles of management for travel-acquired and non–travel-acquired dermatologic illnesses. 5. Discuss …

Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

OCULAR SURFACE SQUAMOUS CELL NEOPLASIA IN A 25 YEARS MAN FROM D.I.KHAN, PAKISTAN

Ocular surface squamous neoplasia (OSSN) is a term that describes the spectrum of abnormal growth of atypical squamous epithelial cells of the conjunctiva, cornea, and sclera. It is more common in people working for long in sun-exposed areas. It resembles other common ocular surface conditions such as pterygium, pinguecula, atopic conjunctivitis, diffuse episcleritis, chronic blepharoconjunctivitis which may result in the wrong diagnosis of the entity. Here we report a case of OSSN in a 25 years old man which was referred to us as a case of pterygium. An excisional biopsy revealed clusters of dysplastic squamous epithelial cells.

Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review

BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations.Case presentationWe report a case of a 28-year-old Chinese woman with freckle-like hyperpigmented macules in a sun-exposed area who is prone to develop basal cell carcinomas. A genetic study revealed a novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene. Western blotting analysis revealed that the patient lacked the expression of the wild-type mature DDB2 protein. The proband was first diagnosed with XPE on the basis of clinical findings and genetic testing. Sun protection was recommended, and the patient did not develop any skin cancers during the one-year follow-up.ConclusionsWe identified a novel homozygous deletion in DDB2 gene in Chinese XP-E patients having unique clinical features.

Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study

BackgroundPorphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous research on how this condition affects health-related quality of life (HRQoL) and to the best of our knowledge this is the largest sample of PCT patients surveyed about their HRQoL. The aims of this study were to describe HRQoL, symptoms, susceptibility factors, disease activity and treatment in patients with PCT, and investigate the associations between these factors.MethodsThis is a cross-sectional, retrospective study based on patient-reported outcome and laboratory data. The Norwegian Porphyria Centre diagnoses all patients with PCT in Norway, all of whom are invited to participate in the Norwegian Porphyria Registry. Between December 2013–2015, 111 patients received a postal questionnaire and invitation to participate.ResultsSixty-eight persons responded, with seven being excluded due to prolonged response time or missing information, resulting in 61 participants in the final analyses (55%). Median age was 60 years and 33 were female. We found a moderate negative relationship between the type and localisation of PCT symptoms and both mental (r = −.354 p < 0.01) and physical (r = −.441, p < 0.01) aspects of HRQoL. Participants who had started treatment when answering the questionnaire reported significantly better physical functioning and less bodily pain than those who had not started treatment. We did not observe an association between biochemical markers of disease activity and symptoms or HRQoL. Itching, a symptom that has received little attention in PCT was reported by 59% of the participants.ConclusionsOur results show that reduced HRQoL is associated with more symptoms and not having started treatment. PCT is a rare disease, and there is a need for the development of best-practice guidelines to facilitate good patient care.

Non-Melanoma Skin Cancer in Outdoor Workers: A Study on Actinic Keratosis in Italian Navy Personnel.

Occupational exposure to ultraviolet radiation is one of the main risk factors for non-melanoma skin cancer (NMSC) development. The most common variants of NMSC are basal cell carcinomas, squamous cell carcinomas, and actinic keratosis (AK). The latter is nowadays considered by most authors as an early squamous cell carcinoma rather than a precancerous lesion. Outdoor workers have a higher risk of developing NMSC because they spend most of the working day outside. The aim of this descriptive study was to assess the prevalence of skin lesions, especially AK, in a professional category of individuals exposed to ultraviolet (UV) radiation: the Italian Navy. From January to June 2016, a questionnaire and a total skin examination of 921 military personnel were administered by medical specialists (dermatologists) in seven different Italian Navy centres. AK was detected in 217 of 921 (23.5%) workers. Older age, outdoor occupation, longer working life, and fair skin seem to promote the development of AK. Of the 217 workers with AK, 187 (86.2%) had lesions in chronically sun-exposed skin areas. Italian Navy personnel have a high AK prevalence. Further studies are needed to investigate occupational hazards and their health effects among outdoor workers to promote protective behaviour and raise awareness of skin cancer.

Four-weeks daily intake of oral collagen hydrolysate results in improved skin elasticity, especially in sun-exposed areas: a randomized, double-blind, placebo-controlled trial

Background Topical as well as oral ‘collagen’ is widely popularized and claimed to possess anti-aging properties for the past several years. Few placebo-controlled trials exist. Objectives Primary: To evaluate the effect of collagen hydrolysate (CH) ingestion for 4 weeks on skin elasticity. Secondary: To compare the effects of CH ingestion on skin elasticity between sun-exposed and sun-protected areas. Materials and methods This study was a prospective, randomized, double-blind placebo-controlled trial comparing the effects of daily intake of 5-g oral CH and placebo in post-menopausal women. Participants were evaluated for skin elasticity, using cutometer at baseline, 2 and 4 weeks after randomization and 4 weeks after discontinuation of study agents. Results A total of 36 participants were enrolled. Skin elasticity measured from left and right cheeks in participants receiving CH increased compared to placebo (p=.006, .03, respectively). After 4 weeks of discontinuation of study agents (week 8), skin elasticity measured from both left and right cheeks remained different between CH and placebo group (p=.01, .004, respectively). Conclusions We demonstrated significant improvement of skin elasticity in sun-exposed areas after 4 weeks ingestion of marine CH. The improvement of elasticity remained 4 weeks after discontinuation of study agents. There were no severe adverse effects during the study.

Clear Cell Squamous Cell Carcinoma: Clinical and Histologic Parameters and a Review of the Literature

Background: Clear cell squamous cell carcinoma (ccSCC) is an uncommon subtype of squamous cell carcinoma. This tumor subtype arises more commonly in elderly individuals and occurring greater upon sun-exposed areas of the body.Objective: To determine the age range and locations of ccSCC, and occurrence in men as compared with women.Methods: An observational study of ccSCC accessioned at a dermatopathology laboratory (Cleveland Skin Pathology, CSP) over an 18-month interval. Cases were retrieved and included based on a search of the terms “clear cell squamous cell carcinoma” in the diagnosis field of the CSP database and reviewed for accuracy and the degree of clear cell change in each lesion. Pathology requisition forms from these cases were used only to identify patients’ age, gender, and anatomic region of the ccSCC reviewed.Results: Of the 17,838 cases of in situ and invasive SCC, there were a total of 107 ccSCC, 77 in situ and 30 invasive (0.6% of total SCC). Of patients with ccSCC, 71% had a history of skin cancer, many (57.9%) in the same anatomic region. When the degree of clear cell change was evaluated there was no statistically significant increase of percentage clear cell change in tumors with age.Conclusions: Along with confirming past observations made with previous studies, our series shows that more men than women develop such tumors before 70 years of age, and more women than men after 70 years of age with men developing ccSCC on average 7 years earlier than women.

Epiderm-Abrasion-Assisted Intensive Pulsed Light and Radiofrequency in Aesthetic Treatment Extensive Facial Freckles.

Freckles are typical epidermal pigmented disorders that occur at sun-exposed areas, presenting with dark-brown or light-brown circular hyperpigmentation. A lot of treatment modalities have been used for treatment of freckles like chemicals, electrosurgery and cryotherapy. These treatments may cause undesirable side effects such as scaring (Sarkar et al. in Indian J Dermatol 62(6):578-584, 2017). Microdermabrasion has been used in treatment of freckles; however, the results are not satisfactory, as it removes the outermost layer of the epidermis only (El-Domyati et al. in J Cosmet Dermatol 15(4):503-513, 2016). Also ablative lasers and non-ablative lasers have been used but have not proved to be completely satisfactory and share a common risk of post-inflammatory hyperpigmentation (Jang et al. in Dermatol Surg 26:231-234, 2000). In our study, we have used epiderm-abrasion-assisted intensive pulsed light (IPL) and radiofrequency (RF) to study their effect in treatment of freckles. this prospective controlled clinical trial was carried out on 48 patients, who presented with extensive facial freckles, in the period between March 2015 and April 2018. The epiderm-abrasion procedure was performed first, and then, electro-photobiomodulation sessions were started two weeks later. This study was carried out on 48 patients, 39 female and 9 males. Their age ranged between 12 and 58years old. According to Fitzpatrick classification, four patients were type II, 30 patients were type III, and 14 patients were type IV. The results were excellent in 32 cases, good in 12 cases, fair in four cases, and we have no poor results. Side effects like hyperpigmentation were reported in three patients (6.3%), one case grade III and two cases grade IV Fitzpatrick skin type. No cases with hypopigmentation, or scars, were reported. Epiderm-abrasion and electro-photobiomodulation (IPL&RF) are effective methods in treatment of facial freckles. Some complications may occur post-procedure such as hyperpigmentation, hypopigmentation and abnormal scarring. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Spinal metastasis from merkel cell carcinoma in an elderly male

Merkel cell carcinoma is a cutaneous neuroendocrine malignancy that has an aggressive nature. Classically, it affects the elderly Caucasian population with a predilection for the sun-exposed areas of the body. Pathogenesis has been linked to ultraviolet radiation, immunosuppression, and the Merkel cell polyomavirus. Definitive diagnosis entails histologic evaluation and immunohistochemical staining. With its generalized appearance and tendency for metastasis, a high index of suspicion must be utilized. In this case, we present the unique presentation of Merkel cell carcinoma as a rapidly enlarging lymph node with metastatic disease to the spinal column presenting as new-onset low back and radicular pain.

Association of Gender with Survival in Melanoma In Situ of the Head and Neck: A National Database Study.

IntroductionWhile prior studies have addressed the gender-specific survival of malignant melanoma, such investigation is lacking for melanoma in situ (MIS) and for the sun-exposed head and neck areas. Understanding the role of patient characteristics on disease prognosis is essential in determining optimal patient treatment and follow-up. We conducted a retrospective cohort study of patients diagnosed with MIS of the head and neck to assess the association of gender with long-term survival.MethodsFirst primary cases of MIS diagnosed between 1998 and 2015 were extracted from the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) database. Cox regression analysis adjusting for demographic, tumor, and treatment characteristics was used to evaluate all-cause and cancer-specific mortality risks.ResultsAfter adjusting for demographic, tumor, and treatment data, males demonstrated significantly poorer overall survival (hazard ratio [HR] 1.484; 95% confidence interval [CI] 1.332, 1.653; P<0.001) and cancer-specific survival (HR 1.571; 95% CI 1.056, 2.338; P=0.026) compared to their female counterparts.ConclusionProposed reasons for these findings include gender-based hormonal influence on cancer growth and development, gender-specific health utilization behaviors, and gender-based cosmetic impact of cutaneous malignancies. These findings do have limitations, including its retrospective nature, possible upgrading of MIS diagnoses during the study period, miscoding, and inability to account of lifestyle/modifiable/environmental risk factors. Nevertheless, it suggests a gender-specific survival difference, which may be further investigated and considered as part of clinician awareness, influence patient counseling, and screening for such patients.

Current therapies for actinic keratosis

Actinic keratosis (AK) is a very common skin disease caused by chronic sun damage, which in 75% of cases arises on chronically sun-exposed areas, such as face, scalp, neck, hands, and forearms. AKs must be considered an early squamous cell carcinoma (SCC) for their probable progression into invasive SCC. For this reason, all AK should be treated, and clinical follow-up is recommended. The aims of treatment are: (i) to clinically eradicate evident and subclinical lesions, (ii) to prevent their evolution into SCC, and (iii) to reduce the number of relapses. Among available treatments, it is possible to distinguish lesion-directed therapies and field-directed therapies. Lesion-directed treatments include: (i) cryotherapy; (ii) laser therapy; (iii) surgery; and (iv) curettage. Whereas, field-directed treatments are: (i) 5-fluorouracil (5-FU); (ii) diclofenac 3% gel; (iii) chemical peeling; (iv) imiquimod; and (v) photodynamic therapy (PDT). Prevention plays an important role in the treatment of AKs, and it is based on the continuous use of sunscreen and protective clothing. This review shows different types of available treatments and describes the characteristics and benefits of each medication, underlining the best choice.

Comparative Study between the Efficacy of Intradermal Injection and Oral Administration of Tranexamic Acid in Treatment of Melasma

Melasma is an acquired hypermelanosis characterized by light to dark-brown macules and patches on sun-exposed areas. Most cases of melasma occur in women in the reproductive age with darker skin types, but all ages, races, and skin colours may be affected, Tranexamic acid is an antiplasminogen agent with well-documented efficacy against melasma. comparison of the efficacy and safety of intradermal injection and systemic administration of tranexamic acid in treatment of melasma. 40 female patients complaining of melasma were divided randomly into two groups, group A and B. mMASI score before and after treatment did not differ significantly between both groups . The response to the treatment was best in group A who was received intradermal injection(4mg/ml)TXA, followed by group B who was received oral TXA in a dose of 250 mg twice daily for 3 months. In group A, there was excellent response was detected in 6 patients (30%), good response was detected in 6 patients (30%), moderat response was detected in 5 patients (20%), mild response was detected in 1 patient (5%) and no response was detected in 2 patient (10%). In group B, excellent response was detected in 0 patients (0%) good response was detected in 1 patients (5%), moderat response was detected in 12 patients (60%), mild response was detected in 3 patient (15%) and no response was detected in 4patient (20%). Tranexamic acid may be a new treatment option for melasma. It is a safe, well-tolerated and effective treatment method.

Merkel Cell Carcinoma: A Case-Report of Rare Presentation of Merkel Cell Carcinoma, Non-Indolent Proliferative Type, Polyomavirus-Negative: Hypothesis of MolecularPathogenesis

Introduction: Merkel cell carcinoma (MCC) is a rare cutaneous indolent neuroendocrine cancer, arising from the Merkel cells of the stratum basalis, of the epidermis. This type of tumor commonly arises in sun-exposed areas, such as head, neck, and lower extremities. Here, we describe a rare presentation of non-indolent proliferative type Merkel cell carcinoma. Case Report: This is a case-report of a 70-year-old Caucasian man with no pertinent past medical history, presenting as a large painless violaceous necrotic irregular bordered rapidly growing lesion, reaching to 8x10x15 cm3, within one-year period, on the lower back region with surface ulceration. Pelvic MRI showed a multilobulated enhancing soft tissue mass measuring 8.7x10.4x15.1 cm3 at the left gluteal region with exophytic extension to the left paraspinal muscles. The patient was admitted, tangential surgical excision and debridement of left flank wound was performed with partial primary closure. Pathology showed features of Merkel cell, show diffuse dot-like positivity with CK20 and are negative for CK7, there is diffuse positivity with NSE, synaptophysin and CD56 with strong diffuse Ki-67 positivity noted in &gt;65% of tumor cells. CD99 shows diffuse small faint dot-like paranuclear positivity. Discussion: Merkel cell carcinoma (MCC) is a rare, aggressive tumor that generally arises in sun-exposed regions. After an initial course of slow growth, starting as a painless violaceous non-pruritic domed-shaped lesion, the tumor becomes more aggressive, rapidly growing, with metastasis with local lymph nodes and regional tissue invasion. Sixty percent of tumors can rapidly grow within a three-month period after initial diagnosis. MCC is also clonally associated with is polyomavirus. MCC Contributing molecular pathogenesis is imperative to determining the causation of rare non-indolent MCC tumors, and its association with prognosis and treatment. In polyomavirus negative patients, consideration for molecular pathogenesis as etiology is imperative.