Dermatology Commons^™

Atopic Dermatitis And The Risk Of Myocardial Infarction And All-Cause Mortality: A Nationwide Population-Based Cohort Study, Yu Ri Woo, Minah Cho, Kyung Do Han, Sang Hyun Cho, Ji Hyun Lee

Faculty, Staff and Student Publications

PURPOSE: Atopic dermatitis (AD) is a chronic inflammatory skin disorder associated with various comorbidities. However, inconsistent results on the risk of myocardial infarction (MI) and mortality have been reported in patients with AD. This study was aimed to evaluate the risk of MI and all-cause mortality in patients with AD.

METHODS: This nationwide population-based retrospective cohort study enrolled 56,205 adults ≥ 20 years of age with AD and 3,825,609 controls without AD from the Korean National Health Service (NHIS) database from 2009 to 2016.

RESULTS: The risk of MI (adjusted hazard ratio [aHR], 1.111, 95% confidence interval [CI], 1.050-1.176) was …

Maximizing Wound Coverage In Full-Thickness Skin Defects: A Randomized-Controlled Trial Of Autologous Skin Cell Suspension And Widely Meshed Autograft Versus Standard Autografting, Sharon Henry, Steven Mapula, Mark Grevious, Kevin N. Foster, Herbert Phelan, Jeffrey Shupp, Rodney Chan, David Harrington, Neil Mashruwala, David A. Brown, Haaris Mir, George Singer, Alfredo Cordova, Lisa Rae, Theresa Chin, Lourdes Castanon, Derek Bell, William Hughes, Joseph A. Molnar

Department of Surgery Faculty Papers

BACKGROUND: Traumatic insults, infection, and surgical procedures can leave skin defects that are not amenable to primary closure. Split-thickness skin grafting (STSG) is frequently used to achieve closure of these wounds. Although effective, STSG can be associated with donor site morbidity, compounding the burden of illness in patients undergoing soft tissue reconstruction procedures. With an expansion ratio of 1:80, autologous skin cell suspension (ASCS) has been demonstrated to significantly decrease donor skin requirements compared with traditional STSG in burn injuries. We hypothesized that the clinical performance of ASCS would be similar for soft tissue reconstruction of nonburn wounds.

METHODS: A …

Neutrophilic Panniculitis Associated With Myelodysplastic Syndrome/Myeloproliferative Neoplasm: A Case Report And Literature Review, Alexa J. Cohen, Laura K. Gleason, Safiyyah A. Bhatti, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

INTRODUCTION: Neutrophilic panniculitis (NP) is a rare subtype of neutrophilic dermatosis, a group of neutrophil-rich inflammatory skin disorders that can present in association with myeloid neoplasms. NP is defined by the presence of a neutrophilic infiltrate in the fat lobules of the subcutis in the absence of either infection or vasculitis. We herein describe a 65-year-old woman with a recent diagnosis of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome (MDS/MPN) who abruptly developed painful, pruritic nodules consistent with NP.

CASE PRESENTATION: A 65-year-old woman with MDS/MPN presented for evaluation of painful and pruritic nodules on her upper and lower extremities. A biopsy …

Atmospheric Pressure Plasma Treatment Of Skin: Penetration Into Hair Follicles, Kseniia Konina, Theresa A. Freeman, Mark J. Kushner

Department of Orthopaedic Surgery Faculty Papers

Sterilization of skin prior to surgery is challenged by the reservoir of bacteria that resides in hair follicles. Atmospheric pressure plasma jets (APPJs) have been proposed as a method to treat and deactivate these bacteria as atmospheric plasmas are able to penetrate into structures and crevices with dimensions similar to those found in hair follicles. In this paper, we discuss results from a computational investigation of an APPJ sustained in helium flowing into ambient air, and incident onto a layered dielectric similar to human skin in which there are idealized hair follicles. We found that, depending on the location of …

Mavs Is A Double-Edged Sword, Christina Huang, Jack L. Arbiser

Student Papers, Posters & Projects

No abstract provided.

The Safety And Efficacy Of Spironolactone Versus Oral Antibiotics For Moderate-Severe Acne In Post-Adolescent Females, Bhav Patel

Master of Science in Physician Assistant Studies Capstone Presentations (Center City)

Introduction

• Acne is a common skin condition when the pores are clogged by particles like dead skin or oil, affecting approximately 50 million individuals in the U.S.¹
• Over a third of females experience moderate-severe forms that persist into adulthood and that number seems to be on the rise³
• Persistent moderate-severe acne often requires systemic medications and oral antibiotics are the most frequently prescribed therapy²
• Dermatologists prescribe more antibiotics per provider than any other specialty, and often for longer durations than recommended²
• The inappropriate use of oral antibiotics is contributing to bacterial resistance and disruption of the …

The Impact Of Intralesional 5-Fluorouracil In The Treatment Of Keloid Scars, Madeline Derham

Master of Science in Physician Assistant Studies Capstone Presentations (Center City)

Background

- The American Academy of Dermatology (AAD) defines a keloid scar as a type of raised scar extending past the initial area of injury¹

- Approximately 10% of the general population affected - significant risk factors include +family history, darker skin tones, mechanism of injury (burn, surgical)³

- Symptom presentation: pain, pruritus, burning, increased sensitivity³

- Varying existing treatment methods with high resistance and recurrence rates leading to no agreed upon standard approach⁵

• Most widely adopted method currently : intralesional (ILS) steroid ^injection5

Leser-Trélat Sign As A Marker For Underlying Pancreatic Cancer, Kalpit Modi, Richard Chen, Layla Abubshait

Einstein Health Papers

Case Presentation: Early diagnosis and rapid treatment of cancer is essential for good clinical outcomes for patients. In this case, an 85-year-old man presented with failure to thrive and was noted to have rapid-onset, multiple seborrheic keratoses (Leser-Trélat sign) on his chest and back. He was ultimately diagnosed with pancreatic cancer using computed tomography.

Discussion: Leser-Trélat sign is a rare cutaneous marker for underlying malignancy. Identification of this sign can help guide diagnostic imaging and lab work to identify an occult internal malignancy, resulting in more rapid diagnosis, earlier treatment, and potentially better clinical outcomes.

Application Of Teaching Regarding Injury Appearance In Darker Pigmented Skin Patients: A Quality Improvement Project, Tiffany Akiba

DNP Projects

Significance and Background: The skin is the largest organ of our body, and skin injury prevention begins with accurately inspecting skin. Current practices stress on looking for any signs of redness which often signify that the skin is possibly injured or compromised. However, darker skin tones do not appear red when injured. Assessing for redness is a practice that is suited better for lighter skin tones.

Purpose: Provide education to providers on current skin assessment practices of darker skin tones.

Methods: The IHI Model of Improvement was used for this project, and the Plan-Do-Study-Act cycle was used to test for …

Prame And Lef1 In Combined Deep Penetrating Nevus And Combined Blue Nevus: Utility And Pitfall, Kaitlin Vanderbeck, Aimi T Rothrock, Woo Cheal Cho, Priyadharsini Nagarajan, Phyu P Aung, Courtney Hudgens, Roland L Bassett, Doina Ivan, Victor G Prieto, Jonathan L Curry, Carlos A Torres-Cabala

Faculty, Staff and Student Publications

Deep penetrating nevi (DPN), particularly those showing combined features, or combined deep penetrating nevi (CDPN), may show histopathological resemblance to blue nevus (BN) and melanoma. Preferentially Expressed Antigen in MElanoma (PRAME) is a marker that helps distinguish melanoma from benign melanocytic lesions. Lymphoid enhancer-binding factor 1 (LEF1) has been proposed to be used in conjunction with β-catenin for diagnosis of DPN. The immunohistochemical expression of PRAME and LEF1 was evaluated in 10 DPN (including 6 CDPN and 2 DPN-like proliferations with atypical features), 16 BN (including combined and cellular BN), and 2 melanomas with features of DPN or BN. PRAME …

Exploring Celiac Disease: A Case Analysis Of Multi-Systemic Symptoms And Effective Dietary Intervention In A Young Female, Mahmoud Ahmed, Vyshnavidevi Sunkara, Muhammad S Khan, Maryam Affaf, Mohammad Ahsan Anwaar

Faculty, Staff and Student Publications

This study presents the case of a 23-year-old woman diagnosed with celiac disease (CD), a condition triggered by an immune response to gluten, leading to inflammation in the small intestine. The patient manifested typical gastrointestinal symptoms, including diarrhea, abdominal pain, and vomiting, complemented by extra-intestinal signs such as fatigue and skin rashes. Diagnosis was corroborated through the presence of tTG-IgA antibodies and distinct histological changes in the duodenum. A notable finding was the patient's iron deficiency anemia, directly linked to the duodenal damage caused by CD. Effective management, encompassing a strict gluten-free diet and iron supplementation, resulted in marked improvement …

Comprehensive Management Of Molluscum Contagiosum: Assessment Of Clinical Associations, Comorbidities, And Management Principles, Neal Bhatia, Adelaide A Hebert, James Q Del Rosso

Faculty, Staff and Student Publications

Despite its high global prevalence, molluscum contagiosum (MC) is not well understood outside of dermatology. Due to the potential self-limiting nature of MC, a common clinical approach in management is to wait for the papules to resolve spontaneously over several weeks to months, without medical intervention. However, this "watch and wait" approach increases risk of spreading the virus to others, extending the duration of the infection, and emergence of several psychosocial issues (e.g., anxiety, embarrassment, isolation). Molluscum contagiosum can be particularly challenging to treat in immunocompromised patients (e.g., human immunodeficiency virus [HIV], organ transplant recipients). This article reviews diagnostic characteristics …

Molluscum Contagiosum: Epidemiology, Considerations, Treatment Options, And Therapeutic Gaps, Adelaide A Hebert, Neal Bhatia, James Q Del Rosso

Faculty, Staff and Student Publications

Molluscum contagiosum (MC) is a viral infection that affects primarily pediatric patients, sexually active young adults, and immunocompromised people of all ages. MC occurs all over the world, making up about one percent of skin disorders and appears to be increasing in prevalence. This cutaneous infection is often associated with atopic dermatitis and is typically self-limiting, although spontaneous resolution can take months to years. Many treatments exist, but only one-a drug-device product using topical cantharidin- is approved by the United States (US) Food and Drug Administration (FDA) for treatment of MC. For many years, there was a lack of an …

Psoriasiform Mycosis Fungoides–Cutaneous T-Cell Lymphoma In An African American, Austinn C Miller, Alexzandra Mattia, Anthony Thompson, Laurie A Temiz, Susuana Adjei, Stephen K Tyring

Faculty, Staff and Student Publications

No abstract provided.

Perspectives In Melanoma: Meeting Report From The Melanoma Bridge (December 1st–3rd, 2022-Naples, Italy), Paolo A Ascierto, Sanjiv S Agarwala, Allison Betof Warner, Marc S Ernstoff, Bernard A Fox, Thomas F Gajewski, Jérôme Galon, Claus Garbe, Brian R Gastman, Jeffrey E Gershenwald, Pawel Kalinski, Michelle Krogsgaard, Rom S Leidner, Roger S Lo, Alexander M Menzies, Olivier Michielin, Poulikos I Poulikakos, Jeffrey S Weber, Corrado Caracò, Iman Osman, Igor Puzanov, Magdalena Thurin

Faculty, Staff and Student Publications

Outcomes for patients with melanoma have improved over the past decade with the clinical development and approval of immunotherapies targeting immune checkpoint receptors such as programmed death-1 (PD-1), programmed death ligand 1 (PD-L1) or cytotoxic T lymphocyte antigen-4 (CTLA-4). Combinations of these checkpoint therapies with other agents are now being explored to improve outcomes and enhance benefit-risk profiles of treatment. Alternative inhibitory receptors have been identified that may be targeted for anti-tumor immune therapy, such as lymphocyte-activation gene-3 (LAG-3), as have several potential target oncogenes for molecularly targeted therapy, such as tyrosine kinase inhibitors. Unfortunately, many patients still progress and …

Understanding The Factors Associated With Us Dermatology Resident Trainees’ Diagnostic Confidence And Skill For Skin Of Color Pathology, Alissa Jeanfreau, Kaylin Beiter, Deborah Hilton

School of Medicine Faculty Publications

Background: Inequities in dermatologic health outcomes translate to worsened clinical outcomes for minority groups. For example, despite a lower incidence of skin cancer overall, African Americans are diagnosed at later stages with greater degrees of lymph node involvement. This has been shown to lead to disproportionate mortality when compared to lighter skinned individuals. Medical education materials contain a significantly lower percentage of skin of color (SOC) images than of lighter skin and research has indicated lower diagnostic accuracy of dermatologic conditions in darker skin by U.S. medical students. The objective of this study was to explore U.S. resident dermatologists’ ability …

Presence Of Circulating Tumor Cells Predates Imaging Detection Of Relapse In Patients With Stage Iii Melanoma, Anthony Lucci, Sridevi Addanki, Yi-Ju Chiang, Salyna Meas, Vanessa N Sarli, Joshua R Upshaw, Mayank Manchem, Sapna P Patel, Jennifer A Wargo, Jeffrey E Gershenwald, Merrick I Ross

Faculty, Staff and Student Publications

Stage III melanoma includes nodal metastasis or in-transit disease. Five-year survival rates vary between 32% and 93%. The identification of high-risk patients is important for clinical decision making. We demonstrated previously that ≥1 circulating tumor cells (CTCs) at baseline was associated with recurrence. In this study, we investigated how frequently CTCs were identified prior to radiologically detected recurrence. Stage III patients (n = 325) had imaging at baseline and q 3 months. Baseline and q 6-12 months blood draws (7.5 mL) were performed to identify CTCs up to 3.5 years from diagnosis. CTC assessment was performed using the immunomagnetic …

Phenotype And Genotype Heterogeneity Of Pla2g6-Associated Neurodegeneration In A Cohort Of Pediatric And Adult Patients, Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6.

METHODS: An extensive review of the patients' data was carried out. Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS) was used for evaluating the severity and progression of INAD patients. Whole-exome sequencing was used to determine the disease's underlying etiology followed by co-segregation analysis using Sanger sequencing. In …

Factors Affecting Treatment Adherence Among Leprosy Patients: Perceptions Of Healthcare Providers, Veincent Christian F Pepito, Arianna Maever Loreche, Rae Erica D Samontina, Sarah Jane A Abdon, David Norman L Fuentes, Ofelia P Saniel

Faculty, Staff and Student Publications

BACKGROUND: Treatment adherence is a vital aspect in the management of chronic diseases like leprosy; however, most studies on treatment adherence focus on patients. This study aims to examine the perceptions of healthcare providers on factors that can promote or prevent patients from adhering to treatment.

METHODS: We conducted three focus group discussions (FGDs) with healthcare providers who have at least one year experience in managing leprosy in three large leprosy case-holding hospitals in Metro Manila, Philippines. We audio-recorded, transcribed, translated the FGD proceedings, and analyzed the transcripts thematically to identify patient-intrinsic and patient-extrinsic enablers and barriers to treatment adherence …

Resolved Peristomal Erosive Papulonodular Dermatitis Mimicking Nevoid Hyperkeratosis Of The Nipple And Areola, Christa M. Tomc, Daniel A. Nguyen, Joseph S. Susa, Stephen E. Weis

HCA Healthcare Journal of Medicine

Introduction

Nevoid hyperkeratosis of the nipple and areola (NHKNA) is a rare cutaneous entity with a distinct clinical and histological presentation. The type II form of this condition can result from various dermatoses, such as irritant contact dermatitis. Erosive papulonodular dermatitis is a chronic irritant dermatitis that often occurs in areas of occlusion and maceration, such as peristomal skin. Pseudoverrucous papules and nodules are a variant of erosive papulonodular dermatitis and have a non-specific histologic pattern of reactive hyperplasia.

Case Presentation

We present a case of a patient with resolved peristomal erosive papulonodular dermatitis who presented status-post ileostomy reversal with …

An Overview Of Risk Factors For Androgenetic Alopecia Among Women At Pasar Ambacang, Kuranji, Padang, Lidya Aprilia Sugma, Satya Wydya Yenny, Roslaili Rasyid

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Androgenetic alopecia (AGA) is a patterned hair loss due to chronic and progressive miniaturization of hair follicles. Hair represents femininity and self-confidence in women. Therefore, AGA may affect the quality of life and psychology in women. This study aims to describe the risk factors for AGA in women living in Pasar Ambacang Sub-district, Kuranji District, Padang City.

Method: This was a descriptive, cross-sectional study that included 40 women with AGA. Interviews with subjects were conducted. This study was approved by the Health Research Ethics Committee at Universitas Andalas (252/UN.16.2/KEPK-FK/2021)

Results: AGA was mostly found on patients …

Scientometric Evaluation Of The Global Research In Acne Disease, Aida Khakimova, Oleg Zolotarev, Engin Senel

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Although acne is one of the most common diseases, medical literature lacks a scientometric analysis relevant to this disorder. In the present study we aimed to perform a scientometric evaluation of literature related to acne.

Methods: Publications were identified by searching for the term «acne» in PubMed. Papers from different countries were then identified by using the Advanced Search Builder. The indicators for evaluating of the absolute and relative increase in number of articles were proposed.

Results: Dynamic publication of activity is compared according to our proposed indicator - The Average Relative Growth Rate. After 1945 …

Lucio Phenomenon In Pregnancy: A Histopathology Review, Siti Efrida Fiqnasyani, Triasari Oktavriana,, Ervina Rosmarwati, Dita Eka Novriana, Ambar Mudigdo

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Lucio phenomenon (LP) is a reaction occurring in lepromatous, non-nodular, diffuse leprosypatients who have not received multidrug therapy (MDT). The diagnosis of LP are based on clinical features and supported by histopathological examination. This report was conducted to establish a diagnosis of LP byhistopathological examination, considering that cases of LP in pregnancy are quite rare so that clinicians can be more precise.

Case: A 35-year-old pregnant woman complained of extensive ulcers on her hand and legs. Madarosis, saddle nose, and earlobes were found A slit skin smear examination showed a bacterial index of +4 and a morphological …

The Effectivity Of Ultrasound-Guided Platelet-Rich Plasma Perineural Injection In Improving Leprosy Sensory Peripheral Neuropathy, Herwinda Brahmanti, Arif Widiatmoko, Dhelya Widasmara, Diane Tantia Sari, Shahdevi Nandar Kurniawan, Widodo Mardi Santoso, Ristiawan Muji Laksono, Abdul Gofur

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Sensory nerve damage is the earliest leprosy sign which can lead to disability. Previous studies showed that autologous platelet-rich plasma (PRP) perineural blind injection can stimulate leprosy sensory nerve regeneration. Our study provided a safer and more accurate PRP agent delivery method through ultrasound-guided injection and was the first to compare PRP versus standard neuropathy treatment, the neurotropic vitamin. This study aimed to determine the effectiveness of combination therapy of ultrasound-guided PRP perineural injection and oral vitamin B complex compared to single oral vitamin B complex in sensory peripheral neuropathy of posterior tibial nerve in leprosy patients.

Challenges In Diagnosing Staphylococcal Scalded Skin Syndrome In Children With Kwashiorkor: A Case Report, Christie Hamdali, Sondang Sirait, Adria Rusvita, Bawono Bhakti

Journal of General - Procedural Dermatology and Venereology Indonesia

Staphylococcal scalded skin syndrome (SSSS) is a type of exfoliating skin disease with high incidence in children. This condition can cause serious morbidity and even mortality with certain comorbid diseases such as malnutrition. Malnutrition could mask the diagnosis of SSSS because of its similarity to numerous differential diagnoses. Accuracy of clinical diagnosis is then essential to determine the proper initial management. This case report presents a 6-month-old male baby with staphylococcal scalded skin syndrome and kwashiorkor. The patient presented with complaints of multiple erythematous plaques and widespread vesicular lesions that subsequently ruptured, resulting in erosions. Physical examination revealed edema, coarse …

The Effect Of Topical Oatmeal (Avena Sativa) On Hydration-Related Skin Disorders: A Systematic Review, Karenina Novani Sugondo, Melyawati Hermawan

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: In recent years, interest in developing cosmetics and beauty products based on natural ingredients has increased. The addition of herbal extracts to products could improve the effectiveness of therapy. One of the natural ingredients that can be found is oatmeal. Oatmeal has been used for a long time and has been approved by the U.S. Food and Drug Administration as a skin protective agent since 2003. This study aims to systematically review the literature to determine the effect of topical oatmeal (Avena sativa) on hydration-related skin disorders.

Methods: A total of 9,538 studies were found in the database sources …

Zosteriform Cutaneous Metastases From A Carcinoma Mammae, Kharisma Yuliasis Widiasri, Ayu Wikan Sayekti, Novian Febiyanto, Elliana Wahyuanggradewi, Jeffrey Giantoro, Satiti Retno Pudjiati, Hanggoro Tri Rinonce, Agnes Sri Siswati

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Cutaneous metastases were reported in 18.6-26.5% of breast cancer patients. Zosteriform cutaneous metastasis is an unusual and rare morphological variant. Clinicians, especially dermatovenereologists, should consider dermatomal cutaneous metastases in oncology patients aside from herpes zoster, which is common in this population.

Case Illustration: A 62-year-old woman presented with clustered papules and vesicles with an erythematous base, sometimes painful, on the right side of the chest in T5-T7 dermatomal distribution of 1-month duration. She had undergone a radical mastectomy for breast carcinoma and had been receiving chemoradiotherapy, which was completed in March 2018. A diagnosis of zosteriform cutaneous …

Therapy Selection For Tinea Corporis And Cruris With Commorbidity: 3 Case Series, Yefta Yefta, Dwi Retno Adi Winarni, Agnes Sri Siswati

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Dermatophytosis is a superficial (skin, hair and nails) fungal infection caused by dermatophyte group fungi (Trichophyton, Epidermophyton and Microsporum). Immunocompromised conditions cause fungal infections to become more widespread and require consideration of therapy.

Case Illustration: This case series represented three cases of tinea corporis and tinea cruris in patients with comorbidities. The first case was tinea corporis and tinea cruris in a patient with congestive heart failure with oral terbinafine therapy. The second case was tinea corporis and tinea cruris in a patient with bilateral fourth degree hydronephrosis with oral griseofulvin therapy. The third case was tinea …

Review Of Natural Compounds For Potential Psoriasis Treatment, Omali Y Elkhawaga, Mohamed M Ellety, Sheref O Mofty, Mohamed S Ghanem, Abdallah O Mohamed

Faculty, Staff and Student Publications

Psoriasis represents an immune-mediated disease with an unclear cause that's marked by inflammation triggered by dysfunction in the immune system, which results in inflammation in various parts of the skin. There could be obvious symptoms, such as elevated plaques; these plaques may appear differently depending on the type of skin. This disease can cause inflammation in the elbows, lower back, scalp, knees, or other regions of the body. It can begin at any age, although it most commonly affects individuals between the ages of 50 and 60. Specific cells (such as T cells) have been observed to play an obvious …

Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy: A Case Report, Laura Gleason, Volkan Tekmen, Alexa Cohen, Safiyyah Bhatti, Burcu Beksac, Jisun Cha, Pierluigi Porcu, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Introduction:

Mastocytosis, a clonal proliferation of mast cells commonly involving the skin and bone marrow, has a varied clinical presentation ranging from cutaneous lesions to systemic disease. Cutaneous mastocytosis is managed symptomatically, but systemic mastocytosis is treated with targeted therapy against the mutated receptor tyrosine kinase c-KIT, the pathogenic driver of mastocytosis. However, there are no guidelines for the treatment of cutaneous mastocytosis refractory to symptomatic management.

We herein report a method to select genetically informed therapy for symptomatic and recalcitrant cutaneous mastocytosis.

Case presentation:

We performed a mutational analysis of dermal mast cells after enrichment by laser capture in …