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Articles 361 - 390 of 789

Full-Text Articles in Skin and Connective Tissue Diseases

Injury To Intervention: Is There Another Opportunity To Improve Burn Care?, William L. Hickerson, Jeffrey E. Carter, John Friedstat, James H. Holmes, James Hwang, Steven A. Kahn, Herbert A. Phelan, Alisa Savetamal May 2023

Injury To Intervention: Is There Another Opportunity To Improve Burn Care?, William L. Hickerson, Jeffrey E. Carter, John Friedstat, James H. Holmes, James Hwang, Steven A. Kahn, Herbert A. Phelan, Alisa Savetamal

School of Medicine Faculty Publications

55th Annual Meeting of the American Burn Association, ABA 2023, May 16 - 19, 2023, Dallas, TX


A Pilot Study Of Hand Autografts Treated With Autologous Skin Cell Suspension, Paige Deville, Jeffrey E. Carter, Madeline Lechtenberg, Herbert A. Phelan May 2023

A Pilot Study Of Hand Autografts Treated With Autologous Skin Cell Suspension, Paige Deville, Jeffrey E. Carter, Madeline Lechtenberg, Herbert A. Phelan

School of Medicine Faculty Publications

55th Annual Meeting of the American Burn Association, ABA 2023, May 16 - 19, 2023, Dallas, TX


An Unusual Ed Case: Spontaneous Necrotizing Fasciitis Presenting As Hypoxic Pneumonia, Chetna Thawani, Kishan Patel May 2023

An Unusual Ed Case: Spontaneous Necrotizing Fasciitis Presenting As Hypoxic Pneumonia, Chetna Thawani, Kishan Patel

Rowan-Virtua Research Day

We present a case of necrotizing fasciitis initially presenting as septic hypoxic pneumonia, and discuss imaging modalities and diagnostic evaluation. Necrotizing soft tissue infection (NSTI) is a rapidly progressive surgical emergency with a mortality rate of 30%. In approximately 80% of cases, it is introduced through a break in the skin. It can also occur after any invasive procedure or surgery. It is most commonly associated with skin flora including staph and strep, though polymicrobial infections are most common. It usually presents with signs of systemic infection, including fever, chills, sepsis, altered mental status - and signs of cutaneous involvement …


Case Report: Nosocomial Digital Eczema From Surface Cleansing Bleach, James Espinosa, Umar Sannoh, Alan Lucerna May 2023

Case Report: Nosocomial Digital Eczema From Surface Cleansing Bleach, James Espinosa, Umar Sannoh, Alan Lucerna

Rowan-Virtua Research Day

We report the case of a healthcare provider who developed hand eczema, predominantly on the first digit and thumb of the right hand, in association with contact with the surface of a desk and mouse pad at work. The eczema abated on days off and was exacerbated within hours of work. The diagnosis was made of hand eczema from surface cleaning bleach. It was noted that several other healthcare providers had developed similar symptoms. The patient's eczema was confirmed by a dermatologist and was successfully treated with topical triamcinolone and emollient cream to the affected areas. Prevention by adhesive strip …


Dorsal Wrist Impingement Syndrome Pain After Ganglion Cyst Removal – A Case Report, Sidharth Sahni, Joseph Fares, Natty Jumreornvong, Arpun Shah, Mariam Zakhary May 2023

Dorsal Wrist Impingement Syndrome Pain After Ganglion Cyst Removal – A Case Report, Sidharth Sahni, Joseph Fares, Natty Jumreornvong, Arpun Shah, Mariam Zakhary

Rowan-Virtua Research Day

A ganglion cyst is a benign fluid-filled sac that develops idiopathically on the dorsal aspect of the wrist by the joint capsule or tendon sheath. It is diagnosed clinically, with MRI and ultrasound used for confirmation. Treatment includes immobilization, aspiration, hydrossection, steroid or hyaluronidase injection, and surgery. Although uncommon, Dorsal Ganglion Cysts (DGC) can lead to Dorsal Wrist Impingement (DWI) syndrome. This syndrome is caused by a thickening of the wrist capsule from overuse, injury, or repetitive procedures. This thickness leads to capsule pinching commonly by the extensor carpi radialis brevis (ECRB) tendon during wrist extension and tenderness by the …


The Clinical Definition And Characterization Of Field Of Cancerization In Patients With Actinic Keratoses, Stuti Prajapati, Christina Kontzias, Mallory Zaino, Steven Feldman May 2023

The Clinical Definition And Characterization Of Field Of Cancerization In Patients With Actinic Keratoses, Stuti Prajapati, Christina Kontzias, Mallory Zaino, Steven Feldman

Rowan-Virtua Research Day

Introduction: Chronic UV radiation affects the entire area of skin exposed, leading to visible actinic keratoses (AK) and subclinical changes in the surrounding skin. AKs are hyperkeratotic lesions, with a 0.025-16% risk of transforming into squamous cell carcinoma (SCC).1 Cellular atypia around AKs is the field of cancerization (FOC). Topical AK therapies can treat the FOC, while destructive treatments address visible lesions. FDA-approved products may be approved for field sizes up to 25 cm2.1,2

Objective: To characterize the FOC and assess the correlation between the FOC and number of AKs.

Methods: 100 patients with AKs were recruited. FOC was defined …


Barriers To Dermatological Care In Patients Who Received Extensive Mohs Surgery - An In-Depth Qualitative Analysis, Stuti Prajapati, Mallory Zaino, Christina Kontzias, Laura Doerfler, Steven R. Feldman May 2023

Barriers To Dermatological Care In Patients Who Received Extensive Mohs Surgery - An In-Depth Qualitative Analysis, Stuti Prajapati, Mallory Zaino, Christina Kontzias, Laura Doerfler, Steven R. Feldman

Rowan-Virtua Research Day

Background: Dermatological care needs to be accessible for the elderly, but they face prominent challenges contributing to delays in diagnosis and treatment. Prolonged management of may lead to widespread cutaneous malignancies, necessitating extensive Mohs surgery.

Objective: To identify areas for early intervention in the geriatric population who have undergone extensive Mohs surgery.

Methods: We performed a qualitative study on 10 patients 65 years and older (68-91) from Atrium Health Wake Forest Baptist dermatology clinics between December 2022 and February 2023, who had extensive Mohs surgery (3 or more layers removed).

Results: Three major areas for potential intervention for cutaneous carcinoma …


Case Report: Facial Mask-Induced Acne ("Maskne"), Gabriel Meister, James Espinosa, Alan Lucerna May 2023

Case Report: Facial Mask-Induced Acne ("Maskne"), Gabriel Meister, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

A 42 year old male health care worker presented with complaints of severe mask related acne vulgaris predominately to the cheeks, chin and nose Here we present the case of a N95 and surgical facial mask use has been a requirement for many occupations during the Covid-19 pandemic. Patient states their current position requires use of an N95 respirator to be worn throughout their shift which can range from 9-14 hours, 6 days per week. Extended daily use of such masks may lead to changes in the skin which can induce irritation and precipitate infection.


Ureterocutaneous Fistula In Setting Of Recurrent Gluteal Abscesses: A Case Report, Catherine Alapatt, Young Son, Benjamin Fink, Brian Thomas, Sean Coulson, Shawon Akanda, Jacob Thatcher, Thomas Mueller May 2023

Ureterocutaneous Fistula In Setting Of Recurrent Gluteal Abscesses: A Case Report, Catherine Alapatt, Young Son, Benjamin Fink, Brian Thomas, Sean Coulson, Shawon Akanda, Jacob Thatcher, Thomas Mueller

Rowan-Virtua Research Day

Ureteral fistulas are a rare occurrence that can arise from iatrogenic trauma, radiation, malignancy, and inflammation. Treatment options of urinary tract fistulas are handled on a case-by-case basis and can necessitate a surgical approach. We present the case of an 85-year-old patient with a ureterocutaneous fistula where conservative management with PCN is a viable alternative to surgical intervention.


Case Report And Brief Review: A Case Of Erythema Ab Igne Due To A Space Heater, Adam Kandil, James Espinosa, Alan Lucerna, James Lee, Robin Lahr May 2023

Case Report And Brief Review: A Case Of Erythema Ab Igne Due To A Space Heater, Adam Kandil, James Espinosa, Alan Lucerna, James Lee, Robin Lahr

Rowan-Virtua Research Day

A 35 year old male presented to the Emergency Department (ED) with a rash of his left lateral lower leg of a 2 months duration. The patient had been using an electric space heater and the affected area was the closest part of his body to the heater. A diagnosis of erythema ab igne was made. Here we discuss erythema ab igne in reference to the medical history of the diagnosis, pathophysiology, modern causative heat sources such as laptop computers and treatment.


New Onset Lichen Planus And Back Pain Leading To Discovery Of A Peri Aortic Abscess, Monica Diep, Wayne Tamaska, Philip Carhart, James Espinosa, Alan Lucerna May 2023

New Onset Lichen Planus And Back Pain Leading To Discovery Of A Peri Aortic Abscess, Monica Diep, Wayne Tamaska, Philip Carhart, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Back pain is a common chief complaint in the emergency department. With the differential ranging from musculoskeletal pain to cauda equina, there are a plethora of diagnoses. Differentiating between benign back pain and back pain that warrants further evaluation and even possible emergent surgical intervention is often a challenge in the acute setting. In this case report, a strange combination of all new symptoms including lichen planus, fevers, chills and atraumatic back pain lead to the eerie and very unexpected diagnosis of a peri-aortic abscess.


Introduction Of Probiotics To Improve Eczema Symptoms In Children In One Pediatric Primary Care Practice: A Quality Improvement Project, Christie Potter May 2023

Introduction Of Probiotics To Improve Eczema Symptoms In Children In One Pediatric Primary Care Practice: A Quality Improvement Project, Christie Potter

Doctor of Nursing Practice Scholarly Projects

Background: There is emerging interest in alternative approaches to treating children with eczema because there is currently no allopathic cure. Non-pharmacological approaches are regarded as generally safe, well tolerated, and cost effective. Eczema is a chronic, relapsing inflammatory, itchy skin condition that adversely affects quality of life in many individuals, including children. Eczema interferes with sleep, leads to secondary skin infections, and causes intractable itching. Topical steroids are the current standard of practice in treating patients but, evidence suggests that they can cause unwanted side effects and can lead to serious systemic reactions. The purpose of this quality improvement project …


Adipocytes And Innate Immunity In Systemic Sclerosis, Nancy Wareing May 2023

Adipocytes And Innate Immunity In Systemic Sclerosis, Nancy Wareing

Dissertations and Theses (Open Access)

Systemic sclerosis (SSc; scleroderma) is a chronic systemic autoimmune and connective tissue disorder characterized by vasculopathy, autoimmune phenomena, and widespread fibrosis. Skin thickening and tightening is the cardinal feature of SSc and is responsible, in part, for the considerable morbidity of this disease. There are currently no targeted treatments for skin manifestations in SSc, primarily due to our fragmented understanding of its pathophysiologic mechanisms. In PART I, we report a previously unappreciated link between aberrant expression of the developmental gene sine oculis homeobox homolog 1 (SIX1) in skin-associated adipocytes in SSc skin and the early loss of dermal white adipose …


The Diagnostic Odyssey Of Hypermobile Eds Patients: Diagnosis, Clinical Expectations, And Psychosocial Concerns, Madeline Alpar May 2023

The Diagnostic Odyssey Of Hypermobile Eds Patients: Diagnosis, Clinical Expectations, And Psychosocial Concerns, Madeline Alpar

Dissertations and Theses (Open Access)

Background: Ehlers-Danlos syndrome (EDS) is a highly variable, heritable connective tissue disorder. Hypermobile EDS (hEDS) is the most common subtype of EDS and has no identifiable underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of genetic testing and wide clinical heterogeneity. Additionally, recent research has shown that genetic institutions limit evaluations for suspected hEDS, adding another barrier to care.

Methods: We developed an online patient survey to explore the diagnostic odyssey of hEDS for those who were diagnosed with or suspicious for hEDS. This survey included sections on demographics, diagnostic information …


Death Due To Drug Reaction With Eosinophilia And Systemic Symptoms (Dress) Syndrome: A Case Report, Samantha P. Sternad, Jane Pangburn, Chad Johnston, David Rowe Apr 2023

Death Due To Drug Reaction With Eosinophilia And Systemic Symptoms (Dress) Syndrome: A Case Report, Samantha P. Sternad, Jane Pangburn, Chad Johnston, David Rowe

HCA Healthcare Journal of Medicine

Background

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a life-threatening, multi-organ adverse drug reaction with an incidence of 1 in 1000 to 1 in 10 000 highrisk drug exposures.

Case Presentation

An elderly female presented to the hospital with progressive weakness and a diffuse erythematous macular rash covering most of her body that started 3 days prior. Over the next 3 days, the patient quickly deteriorated, developing disorientation with acute onset left-sided weakness, leukocytosis, thrombocytopenia, eosinophilia, liver and kidney failure, and hypoxia. Clinical and histological changes supported the diagnosis of DRESS syndrome caused by intravenous (IV) ampicillin …


Retrospective Review Of Adverse Events Following Treatment Of Non-Melanoma Skin Cancer With Low-Energy Superficial Radiation Therapy, Marshall Hall, Henry Lim, Christian Scheufele, Christopher Wong, Daniel A. Nguyen, Michael Carletti, Stephen Weis Apr 2023

Retrospective Review Of Adverse Events Following Treatment Of Non-Melanoma Skin Cancer With Low-Energy Superficial Radiation Therapy, Marshall Hall, Henry Lim, Christian Scheufele, Christopher Wong, Daniel A. Nguyen, Michael Carletti, Stephen Weis

North Texas GME Research Forum 2023

Background: Basal cell carcinoma and squamous cell carcinoma are the most common types of non-melanoma skin cancer.1 Superficial radiation therapy (SRT) is a treatment modality that utilizes low-energy x-rays to disrupt cell mitosis directly and indirectly.2 This method of treatment offers advantages for select patients. While this technique has been utilized for over a century, it has recently begun to gain favor in clinical practice.1,3 Although SRT has shown favorable outcomes with a low risk of complications, it still poses a risk for adverse events.1,3,4 The frequency and severity of adverse events are not well-defined with SRT delivered technology with …


Presentations Of Tumor Recurrence Of Non-Melanoma Skin Cancer After Treatment With Low-Energy Superficial Radiation Therapy, Marshall Hall, Henry Lim, Christian Scheufele, Christopher M. Wong, Daniel A. Nguyen, Michael Carletti, Stephen Weis Apr 2023

Presentations Of Tumor Recurrence Of Non-Melanoma Skin Cancer After Treatment With Low-Energy Superficial Radiation Therapy, Marshall Hall, Henry Lim, Christian Scheufele, Christopher M. Wong, Daniel A. Nguyen, Michael Carletti, Stephen Weis

North Texas GME Research Forum 2023

Background: Basal cell carcinoma and squamous cell carcinoma are the most common types of non-melanoma skin cancers.1 Superficial radiation therapy (SRT) is a treatment modality that utilizes low-energy x-rays to disrupt cell mitosis.2 While this technique has been used for over a century, it has recently gained favor in clinical practice.3,4 This method of treatment offers favorable outcomes and advantages for select patients. Although the incidence of cancer recurrence after superficial radiation therapy is low, relatively little is known regarding predictive patterns. The frequency and timing of cancer recurrence is not well defined using SRT delivered technology with an image-guided …


A Case Of Erythema Nodosum, Mahmood Ahmad, Sunitha Valayil Apr 2023

A Case Of Erythema Nodosum, Mahmood Ahmad, Sunitha Valayil

North Texas GME Research Forum 2023

Background: Erythema nodosum (EN) is characterized as a delayed hypersensitivity reaction to subcutaneous adipose tissue. This panniculitis process presents as erythematous, tender nodules and plaques most commonly located on the pretibial areas. EN may be idiopathic or may be caused by a number of factors such as infection, chronic systemic inflammatory processes, drugs or malignancy.

Case presentation: A 29-year-old male with no significant past medical history presented with a 2-week history of worsening bilateral lower extremity erythema, nodules and pain. This patient was initially seen in the emergency department after a 4-day history of his symptoms. At this time, he …


Lesion Size Inclusion On Dermatopathology Requisition Forms: A Quality Improvement Project, Christopher M. Wong, Henry Lim, Christian Scheufele, Daniel A. Nguyen, Ashleigh E. Hermann, Michael Carletti, Stephen Weis Apr 2023

Lesion Size Inclusion On Dermatopathology Requisition Forms: A Quality Improvement Project, Christopher M. Wong, Henry Lim, Christian Scheufele, Daniel A. Nguyen, Ashleigh E. Hermann, Michael Carletti, Stephen Weis

North Texas GME Research Forum 2023

Introduction: Dermatopathology requisition forms (RFs) are a critical communication tool between dermatologists and dermatopathologists. Including detailed information on RFs improves the diagnostic accuracy of the consulting dermatopathologist. However, the diameter of the biopsied lesion is often omitted on RFs. This study aimed to increase the rate of reporting lesion diameters on RFs from an academic outpatient dermatology clinic to greater than 65% through education, reinforcement, and evaluation. Methods: This quality improvement project retrospectively and prospectively analyzed the inclusion rate of lesion diameters on dermatopathology RFs from a single institution. In Phase 1, data was collected from all skin biopsies performed …


A Case Of An African American Female Presenting With Idiopathic Granulomatous Lobular Mastitis, Wendy Timirau, Esra Sari, Maham Shahid, Nilmarie Guzman, Augusto Villegas Apr 2023

A Case Of An African American Female Presenting With Idiopathic Granulomatous Lobular Mastitis, Wendy Timirau, Esra Sari, Maham Shahid, Nilmarie Guzman, Augusto Villegas

South Atlantic Division GME Research Day 2023

No abstract provided.


Blastic Plasmacytoid Dendritic Cell Neoplasm, Jacquelyn Medina, Adam Chahine, Courtney Bernett, Karthik Krishnamurthy Apr 2023

Blastic Plasmacytoid Dendritic Cell Neoplasm, Jacquelyn Medina, Adam Chahine, Courtney Bernett, Karthik Krishnamurthy

South Atlantic Division GME Research Day 2023

No abstract provided.


A Case Of Aquagenic And Cholinergic Urticaria, Marilian A. Canals Rivera, Kyle Rauch, Amanda Brenner, Victoria Charry Apr 2023

A Case Of Aquagenic And Cholinergic Urticaria, Marilian A. Canals Rivera, Kyle Rauch, Amanda Brenner, Victoria Charry

South Atlantic Division GME Research Day 2023

No abstract provided.


A Challenging Mimicker: Uncovering Hypopigmented Mycosis Fungoides From Common Benign Dermatoses, Paola Torres-Laboy, Rachel Dykes, Michelle Foley, Karthik Krishnamurthy Apr 2023

A Challenging Mimicker: Uncovering Hypopigmented Mycosis Fungoides From Common Benign Dermatoses, Paola Torres-Laboy, Rachel Dykes, Michelle Foley, Karthik Krishnamurthy

South Atlantic Division GME Research Day 2023

No abstract provided.


The Current State Of Prenatal Detection Of Genetic Conditions In Congenital Heart Defects, Areebah S Ahmad, Kathleen M Mulligan, David X Zheng, Katie A O'Connell, Benjamin Gallo Marin, Misha V Koshelev Apr 2023

The Current State Of Prenatal Detection Of Genetic Conditions In Congenital Heart Defects, Areebah S Ahmad, Kathleen M Mulligan, David X Zheng, Katie A O'Connell, Benjamin Gallo Marin, Misha V Koshelev

Faculty, Staff and Student Publications

Interest in subspecialty training remains high for dermatology residency graduates. Fellowship program directors (FPDs) are largely responsible for fellowship organization and development. Here, we study the dermatology fellowship leadership landscape and identify notable differences in the characteristics of current dermatopathology, paediatric dermatology, and Mohs micrographic surgery and dermatologic oncology FPDs.


Trametinib-Induced Epidermal Thinning Accelerates A Mouse Model Of Junctional Epidermolysis Bullosa, Grace Tartaglia, Pyung Hung Park, Michael H. Alexander, Alexander Nyström, Joel Rosenbloom, Andrew P. South Apr 2023

Trametinib-Induced Epidermal Thinning Accelerates A Mouse Model Of Junctional Epidermolysis Bullosa, Grace Tartaglia, Pyung Hung Park, Michael H. Alexander, Alexander Nyström, Joel Rosenbloom, Andrew P. South

Department of Dermatology and Cutaneous Biology Faculty Papers

Junctional epidermolysis bullosa (JEB) patients experience skin and epithelial fragility due to a pathological deficiency in genes associated with epidermal adhesion. Disease severity ranges from post-natal lethality to localized skin involvement with persistent blistering followed by granulation tissue formation and atrophic scarring. We evaluated the potential of utilizing Trametinib, an MEK inhibitor previously shown to target fibrosis, with and without the documented EB-anti-fibrotic Losartan for reducing disease severity in a mouse model of JEB; Lamc2jeb mice. We found that Trametinib treatment accelerated disease onset and decreased epidermal thickness, which was in large part ameliorated by Losartan treatment. Interestingly, a range …


Alopecia In Patients With Collagen Vi-Related Myopathies: A Novel/Unrecognized Scalp Phenotype, Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini Apr 2023

Alopecia In Patients With Collagen Vi-Related Myopathies: A Novel/Unrecognized Scalp Phenotype, Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini

Department of Dermatology and Cutaneous Biology Faculty Papers

Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of …


Peristomal Irritant Contact Dermatitis Treated With Dupilumab, Emma Villamaria, Chelsea Steele, Megan Rogge Apr 2023

Peristomal Irritant Contact Dermatitis Treated With Dupilumab, Emma Villamaria, Chelsea Steele, Megan Rogge

Faculty, Staff and Student Publications

No abstract provided.


Venous Leg Ulcers: An Analysis Of Nursing Knowledge, Shelia Moore-Miller Mar 2023

Venous Leg Ulcers: An Analysis Of Nursing Knowledge, Shelia Moore-Miller

Electronic Theses and Dissertations

This project evaluated the knowledge level of wound center nursing staff on venous leg ulcer etiology and treatments after an educational intervention. To determine the effectiveness of the educational intervention, participants completed a pretest and posttest evaluation. Venous leg ulcers (VLUs) are chronic lower extremity ulcers affecting older Americans. VLUs are painful and negatively affect activities of daily living. Inadequate VLU treatment can become an infectious process that can ultimately threaten limb existence. A quantitative, quasi-experimental study was conducted over three weeks in a hospital-based wound care center in central Florida. The theoretical framework applied to this project is Lydia …


Itch And Janus Kinase Inhibitors, Yujin Han, Yu Ri Woo, Sang Hyun Cho, Jeong Deuk Lee, Hei Sung Kim Feb 2023

Itch And Janus Kinase Inhibitors, Yujin Han, Yu Ri Woo, Sang Hyun Cho, Jeong Deuk Lee, Hei Sung Kim

Faculty, Staff and Student Publications

Itch is a common skin symptom, with complex aetiology and pathogenesis. It is mediated by 2 pathways, the histaminergic and non-histaminergic pathways. Chronic itch is understood to be processed by the latter and is difficult to treat with traditional pruritus therapies. The Janus kinase and signal transducer and activator of transcription pathway is a signalling mechanism that regulates gene expression through various cytokines. Janus kinase inhibitors, which have been tested and used for several autoimmune diseases, have also been shown to be effective for itch through clinical trials and case reports. Janus kinase inhibitors could be a good choice for …


Molecular Diagnosis Of Non X-Linked Ectodermal Dysplasias Using Next Generation Sequencing, Eman Abdelalim Rabie Feb 2023

Molecular Diagnosis Of Non X-Linked Ectodermal Dysplasias Using Next Generation Sequencing, Eman Abdelalim Rabie

Theses and Dissertations

Ectodermal Dysplasias (EDs) are rare heterogenous monogenic developmental disorders sharing the impairment of at least two surface ectoderm-derived organs. Symptoms characteristically manifest developmental abnormalities of the teeth, and three skin derivatives: hair follicles, nails, and sweat glands. The disease-causing gene was identified for only fewer than half of 160 characterized ED phenotypes. Expectedly, ED-causing genes regulate or function in ectodermal-developmental processes. The most common phenotype is hypohidrotic ED featuring teeth agenesis, and diminished or complete absence of hair and sweat production. Disease-causing variants of EDA, EDAR, EDARADD and WNT10A genes were identified in 60-90% of ED patients in …