Review
Dermatology
Zhilang Lin, Yuxin Pei, Xuhua Tang, Liping Rong, Lizhi Chen, Xiaoyun Jiang
Summary: Stiff skin syndrome (SSS) is a rare disorder characterized by skin induration and limited joint mobility. Combination therapy with medications and rehabilitation training can effectively retard the progression of SSS.
DERMATOLOGIC THERAPY
(2022)
Review
Clinical Neurology
Nicolas Mercure-Corriveau, Shuvro Roy, Chen Hu, Elizabeth P. P. Crowe, Xianming Zhu, Danielle Obando, Eshan U. U. Patel, Aaron A. R. Tobian, Yujie Wang, Evan M. M. Bloch, Scott D. D. Newsome
Summary: This retrospective observational study examined the safety, tolerability, and efficacy of therapeutic plasma exchange (TPE) in patients with Stiff person syndrome spectrum disorders (SPSD). The majority of patients showed improvement after TPE, and a significant portion reduced their usage of symptomatic medications in the following three months.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Review
Genetics & Heredity
Feng Tang, Yang Zeng, Li Wang, Daishu Yin, Lin Chen, Dan Xie, Jing Wang
Summary: By analyzing prenatal ultrasound abnormalities, this study improved our understanding of the prenatal presentation of Wolf-Hirschhorn syndrome (WHS). The timely identification of prenatal ultrasound abnormalities can provide accurate consultation for pregnant women, improve the prenatal detection of WHS, and enable early prenatal management and intervention of WHS.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Review
Genetics & Heredity
Po Lam So, Ho Ming Luk, Ka Wang Cheung, Winnie Hui, Man Yan Chung, Annisa S. L. Mak, Wing Yi Lok, Kris Pui Tak Yu, Shirley S. W. Cheng, Edgar W. L. Hau, Stephanie Ho, Stephen T. S. Lam, Ivan F. M. Lo
Summary: This study investigated prenatal ultrasound findings in fetuses with KS, showing a variety of non-specific abnormalities. A combination of cases and literature review revealed common ultrasound features in KS fetuses, such as cardiac anomalies, polyhydramnios, genitourinary anomalies, and single umbilical artery.
PRENATAL DIAGNOSIS
(2021)
Review
Ophthalmology
Tejal Magan, J. Christopher Rapuano, D. Brandon Ayres, M. Heather Skeens, Vipin Goyal, Sebastian Heersink, B. Beeran Meghpara, A. Zeba Syed, Ralph C. Eagle Jr, Tatyana Milman
Summary: Conjunctival actinic granuloma presents with diverse clinical and histopathologic features, often associated with pre-existing pterygium and pinguecula, and may have a link to allergy and atopy. Its manifestations need to be differentiated from other autoimmune, neoplastic, and infectious causes.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Review
Immunology
Jesus Gutierrez, Elouise E. Kroon, Marlo Moller, Catherine M. Stein
Summary: Despite high and prolonged exposure to Mycobacterium Tuberculosis (Mtb), some individuals do not develop disease. Research interest into this phenotype is growing, but there is currently a lack of unified definition, which if established, could improve study comparisons and future study planning.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Sinziana Ionescu, Alin Codrut Nicolescu, Octavia Luciana Madge, Marian Marincas, Madalina Radu, Laurentiu Simion
Summary: Tuberculosis is a major public health issue in developing countries, with abdominal TB being difficult to detect and diagnose due to non-specific symptoms. This study identified key features and challenges in diagnosing abdominal TB, emphasizing the importance of appropriate workups in endemic regions for suspected cases presenting with peritonitis, lymphadenopathy, or organ lesions at the intestinal or solid organ level.
Article
Obstetrics & Gynecology
Tamara Casteleyn, Denise Horn, Wolfgang Henrich, Stefan Verlohren
Summary: This study investigated sonographic signs of different syndromic craniosynostoses and associated malformations, identifying characteristic changes in head shape and potential genetic mutations. For suspected cases, genetic, neonatal, and surgical counseling is recommended, along with fetal MRI screening for accurate diagnosis and planning delivery in a perinatal center.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2022)
Review
Genetics & Heredity
Henrique Regonaschi Serigatto, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Cristiano Tonello, Priscila Padilha Moura, Adriano Porto Peixoto, Luiz Paulo Gomes, Roseli Maria Zechi-Ceide
Summary: This article describes a case series of 32 Brazilian individuals with OAFNS and reviews the literature to refine the phenotype of this rare condition. The study reveals the phenotypic variability of OAFNS and highlights the occurrence of rare craniofacial clefts as part of the phenotype. The presence of ectopic nasal bone, a hallmark of OAFNS, reinforces the clinical diagnosis.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Health Care Sciences & Services
Ogechi Ikediobi, Jeremy A. Schneider
Summary: Pharmacogenomics plays a crucial role in preventing severe cutaneous adverse drug reactions. Dermatologists are experts in diagnosing and managing SCAR, but often overlook prevention strategies. Utilizing pharmacogenomics for preventing SCAR can be particularly beneficial in the context of commonly prescribed medications.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Clinical Neurology
Hillary Eichelberger, Ryan O. Lindo, Alcibiades J. Rodriguez
Summary: Sleep laughter is a common phenomenon, usually occurring during REM sleep. However, repetitive laughter during NREM sleep or sleep-wake transitions has not been documented in the literature. This case report presents a patient with paroxysmal laughter during drowsiness and NREM sleep, prompting discussion on differentiating parasomnia from seizures.
Review
Oncology
Zhao Li, Di Han, Tong Chen, Lifang Zhang, Yan Wang, Yixuan Liu, Xuejuan Zhang
Summary: Stiff person syndrome is a rare autoimmune disease of the central nervous system characterized by stiff-ness and painful spasms of the trunk axis and lower limb muscles. Benzodiazepines are the preferred treatment for this condition. This case report highlights a patient with SPS who experienced stiffness and convulsions of the lower limbs, weakness after convulsions, abdominal muscle stiffness, and painful spasms that improved spontaneously. The patient also had ground glass nodules in the left lung, which were found to be adenocarcinoma in situ. Treatment with clonazepam and diazepam combined with pregabalin significantly relieved the symptoms.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2023)
Review
Oncology
Zhao Li, Di Han, Tong Chen, Lifang Zhang, Yan Wang, Yixuan Liu, Xuejuan Zhang
Summary: Stiff person syndrome (SPS) is a rare autoimmune disease characterized by stiffness and painful spasms of the trunk and lower limb muscles. Benzodiazepines are the preferred treatment for this disease. We present a case of SPS with symptoms including lower limb stiffness, convulsions, weakness, abdominal muscle stiffness, and painful spasms that worsened with fatigue or mental stimulation. The patient was diagnosed with adenocarcinoma in situ based on chest-enhanced computed tomography scan results. Treatment with clonazepam, diazepam, and pregabalin significantly relieved the symptoms. The clinical manifestations of SPS vary among patients, and early identification and treatment are crucial for improving prognosis.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2023)
Review
Orthopedics
Mark F. Siemensma, Anna E. van der Windt, Eline M. van Es, Joost W. Colaris, Denise Eygendaal
Summary: The elbow is prone to stiffness due to its unique anatomy and capsular reaction to inflammation. Trauma, posttraumatic arthritis, and heterotopic ossification are the most common causes. Conservative treatment is advised for soft tissue contractures, while early surgical intervention is recommended for osseous deformities. Arthroscopic arthrolysis is a preferred surgical option with lower complications.
EFORT OPEN REVIEWS
(2023)
Article
Immunology
Kundian Guo, Xu Liu, Xue Gong, Aiqing Li, Yue Liu, Xingjie Li, Dong Zhou, Zhen Hong
Summary: This study described a case series of autoimmune encephalitis patients with mGluR5 antibodies from China. The clinical phenotype of anti-mGluR5 encephalitis in Chinese patients is similar, with behavioral/personality changes and cognitive disorders being the main manifestations. Most patients showed good responses to immunotherapy and had favorable clinical outcomes.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Dermatology
Kathleen F. O'Brien, Ilona J. Frieden, Alexander Zeymo, Jelena Vasic, Robert Silverman, Gerald Goldberg, Cynthia Marie Carver DeKlotz
Summary: Electronic colorimeters, particularly focusing on blue and green values, demonstrate a high accuracy in distinguishing between port-wine birthmarks (PWB) and infantile hemangiomas (IH) regardless of thickness. Further large-scale evaluation is needed.
PEDIATRIC DERMATOLOGY
(2021)
Article
Dermatology
Esteban Fernandez Faith, Sonal Shah, Patricia M. Witman, Katya Harfmann, Flora Bradley, Francine Blei, Elena Pope, Anwar Alsumait, Deepti Gupta, Isabela Covelli, Jenna L. Streicher, Colleen Cotton, Megha Tollefson, Henry Nguyen, Raegan Hunt, Melissa Moore-Clingenpeel, Ilona J. Frieden
Summary: This cohort study on ulcerated infantile hemangioma patients found that treatment interventions with shorter healing times could lead to ulceration healing. The size of hemangioma is a significant prognostic factor for healing time.
Article
Genetics & Heredity
Catherine E. Cottrell, Nicole R. Bender, Michael T. Zimmermann, Jonathan W. Heusel, Meagan Corliss, Michael J. Evenson, Vincent Magrini, Donald J. Corsmeier, Matthew Avenarius, Jeffrey N. Dudley, Jennifer J. Johnston, Marjorie J. Lindhurst, Katinka Vigh-Conrad, Olivia M. T. Davies, Carrie C. Coughlin, Ilona J. Frieden, Megha Tollefson, Andrea L. Zaenglein, Heather Ciliberto, Laura L. Tosi, Robert K. Semple, Leslie G. Biesecker, Beth A. Drolet
Summary: Somatic variants in the PIK3R1 gene, similar to cancer-associated variants, cause complex vascular malformations and overgrowth. The phenotypic spectrum associated with PIK3R1 overlaps with the PIK3CA-related overgrowth spectrum, including features like mixed vascular malformations, macrodactyly, lymphatic malformations, venous ectasias, and overgrowth of tissues or bones. This study expands our understanding of the diverse phenotypic spectrum caused by genetic variations in the PI3K-AKT pathway.
GENETICS IN MEDICINE
(2021)
Letter
Dermatology
Olivia M. T. Davies, Maria C. Garzon, Ilona J. Frieden, Catherine E. Cottrell, Karen W. Gripp, Russell P. Saneto, Tor Shwayder, Ghayda M. Mizaa, Beth A. Drolet
Summary: This article mainly focuses on surgical treatment for male genital tumors, including local recurrence rates and a review of cases. It also explores the surgical treatment and reconstruction for genital skin cancer, as well as the surgical treatment and outcomes of patients with extramammary Paget's disease.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2022)
Article
Dermatology
Nicole W. Kittler, Ilona J. Frieden, Katrina Abuabara, Dawn H. Siegel, Kimberly A. Horii, Erin F. Mathes, Francine Blei, Anita N. Haggstrom, Jenna L. Streicher, Denise W. Metry, Maria C. Garzon, Kimberly D. Morel, Christine T. Lauren, Marcia Hogeling, Esteban Fernandez Faith, Eulalia Baselga, Megha M. Tollefson, Brandon D. Newell, Catherine C. McCuaig, Anthony J. Mancini, Sarah L. Chamlin, Emily M. Becker, Maria L. Cossio, Sonal D. Shah
Summary: The study found that during the COVID-19 pandemic, hemangioma specialists utilized telemedicine for evaluating and managing IH with high confidence, mostly through video or audio communication with photographs. Providers preferred follow-up modalities that included photographs, and the data suggest that telemedicine can effectively manage IH and potentially reduce wait times.
PEDIATRIC DERMATOLOGY
(2022)
Article
Dermatology
Olivia M. T. Davies, Ashley T. Ng, Jennifer Tran, Shoshana Blumenthal, Lisa M. Arkin, Amy J. Nopper, Catherine E. Cottrell, Maria Garzon, Dawn H. Siegel, Ilona J. Frieden, Beth A. Drolet
Summary: This study reports five patients with early-onset hypertension and extensive cutaneous capillary malformations (CMs), and discusses possible mechanisms driving hypertension. The study recommends serial blood pressure measurements in patients with extensive CMs on the trunk and extremities to screen for early-onset hypertension.
PEDIATRIC DERMATOLOGY
(2022)
Article
Dermatology
Esteban Fernandez Faith, Sonal D. Shah, Mitchell Braun, Elena Pope, Irene Lara-Corrales, Patricia M. Witman, Katya Harfmann, Flora Bradley, Rohali Keesari, Kenneth Jackson, Alexandra Hallagan, Ilona J. Frieden
Summary: This retrospective study found that the incidence of ulceration in infantile hemangiomas has decreased compared to previous reports. However, it remains a relatively common complication. Clinical factors associated with ulceration include partial segmental morphology, location in the diaper area, and size greater than 5 cm. Additionally, Black patients were found to have a higher risk of ulceration, potentially due to barriers to care.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Review
Dermatology
Sonal D. Shah, Erin F. Mathes, Eulalia Baselga, Ilona J. Frieden, Julie Powell, Maria C. Garzon, Kimberly D. Morel, Christine T. Lauren, Anthony J. Mancini, Sarah L. Chamlin, Monica Rios, Lina Belmesk, Catherine C. McCuaig
Summary: This study describes the experience of the Hemangioma Investigator Group with pulsed dye laser (PDL) in treating nonulcerated infantile hemangioma (IH) in pediatric patients. The results show that PDL is a useful tool in the treatment of IH, with significant improvement in telangiectasia and erythema and low risk of complications.
PEDIATRIC DERMATOLOGY
(2023)
Article
Oncology
Elissa R. Engel, Adrienne Hammill, Denise Adams, Roderic J. Phillips, Michael Jeng, Megha M. Tollefson, Ionela Iacobas, Deborah Schiff, Shoshana Greenberger, Michael Kelly, Ilona Frieden, Nibal Zaghloul, Beth Drolet, Amy Geddis, Dov Goldenberg, Kiersten Ricci
Summary: Sirolimus therapy is safe and effective in reducing complications and improving quality of life in patients with capillary lymphatic venous malformations and associated syndromes.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Dermatology
Christine Leaute-Labreze, Ilona Frieden, Alain Delarue
Summary: Early referral and treatment of infantile hemangioma is challenging, and there is a lack of data on the optimal timing for initiating treatment with oral propranolol. This study found that starting oral propranolol before 10 weeks of age was associated with a significantly higher treatment success rate of 86%, compared to a success rate of 60% when starting treatment after 10 weeks of age.
PEDIATRIC DERMATOLOGY
(2023)
Letter
Oncology
Ilona J. J. Frieden, Anthony J. J. Mancini, Francine Blei, David H. Darrow, Daniel P. P. Krowchuk
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Medicine, Research & Experimental
Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O'Connor, Erin Pinto, Jessica R. C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson
Summary: Central conducting lymphatic anomaly (CCLA), a debilitating and potentially life-threatening disease, can be caused by congenital maldevelopment of the lymphatics. Through studying individuals with CCLA and microcystic lymphatic malformation, researchers identified pathogenic KRAS variants, which activate the RAS/MAPK pathway. Using cell and animal models, they found that MEK inhibition could effectively reduce lymphatic dysplasia and edema. These findings suggest that MEK inhibition should be further investigated as a targeted therapy for CCLA caused by activating KRAS pathogenic variants.
Article
Oncology
Beth Apsel Winger, Walter Patrick Devine, Edward C. Hsiao, Matthew Zapala, Jessica Van Ziffle, Nalin Gupta, Ilona J. Frieden, Kristin A. Shimano
Summary: Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA) are subtypes of complex lymphatic malformations (CLMs) with osseous involvement. Somatic mosaic mutations in oncogenes are often present, and targeted therapies such as mTOR inhibitors may alleviate symptoms in some patients. The discovery of EML4::ALK fusions in two patients with GSD and GLA suggests additional targeted therapies could be effective.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Ifeoma U. Perkins, Serena Y. Tan, Timothy H. McCalmont, Pauline M. Chou, Thaddeus W. Mully, Pedram Gerami, Jason H. Pomerantz, Miguel Reyes-Mugica, Daniel M. Balkin, Lacey L. Kruse, Benjamin Huang, Jennifer L. Reichek, Noopur Gangopadhyay, Simon Chiosea, Jared R. Green, Sarah L. Chamlin, Ilona J. Frieden, Boris C. Bastian, Iwei Yeh
Summary: We report the first cases of pediatric melanoma with ALK fusion gene arising within giant congenital melanocytic nevi. Two newborn boys presented with large pigmented nodular plaques and numerous smaller satellite nevi. Instead of NRAS and BRAF mutations, oncogenic ZEB2::ALK fusion genes were identified in both the nevus and melanoma developing within the nevus, suggesting a more aggressive behavior.
PIGMENT CELL & MELANOMA RESEARCH
(2023)
Article
Dermatology
Keemberly Kim, Sampreet Reddy, Lindsay J. Osborn, Ilona C. Frieden, Kelly W. Nelson, Matilda E. Nicholas, Elizabeth Bailey, Meghan Dickman
Summary: High-quality clinical photography is essential in dermatology for patient evaluation, clinical teaching, and research. Though smartphones have made photography more accessible, there are challenges in obtaining quality photos. This guide proposes best practices for image capture to improve patient care and integrate high-quality photography into routine clinical practice.
ARCHIVES OF DERMATOLOGICAL RESEARCH
(2023)