A5086342748- Neurofibromatosis and Schwannoma Cases
- Genetic and rare skin diseases.
- Soft tissue tumors and treatment
- Soft tissue tumor case studies
- Cancer and Skin Lesions
- Skin and Cellular Biology Research
- Cutaneous Melanoma Detection and Management
- Dermatology and Skin Diseases
- Tumors and Oncological Cases
- Nail Diseases and Treatments
- Autoimmune Bullous Skin Diseases
- Immunodeficiency and Autoimmune Disorders
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Vascular Malformations and Hemangiomas
- Platelet Disorders and Treatments
- Fungal Infections and Studies
- Hedgehog Signaling Pathway Studies
- melanin and skin pigmentation
- Acne and Rosacea Treatments and Effects
- Renal Diseases and Glomerulopathies
- Autoimmune and Inflammatory Disorders
- Cancer Genomics and Diagnostics
- Cutaneous lymphoproliferative disorders research
- Psoriasis: Treatment and Pathogenesis
University of Alabama at Birmingham Hospital
2024
University of Alabama at Birmingham
2011-2023
American Academy of Dermatology
2022-2023
Georgetown University
2023
Children's of Alabama
2014-2023
Medical University of South Carolina
2022-2023
UConn Health
2022-2023
Baylor College of Medicine
2023
American College of Medical Genetics
2023
University of Alabama
2010-2017
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating hotspots in the University of Alabama Birmingham (UAB) cohort, together identified 1.8% unrelated individuals. About 25% (95% confidence interval: 20.5–31.2%) heterozygous for p.Lys1423 had Noonan-like phenotype, which is significantly more compared with "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and variants were...
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by predisposition to develop multiple benign tumors. A major feature of NF1 the development localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% adults with and are responsible for negative effects on quality life. Previous reports have correlated increased burden age pregnancy, but longitudinal data not available establish quantitative natural history these lesions. The purpose this study conduct...
Rubella virus (RuV) has recently been found in association with granulomatous inflammation of the skin and several internal organs patients inborn errors immunity (IEI). The cellular tropism molecular mechanisms RuV persistence pathogenesis select immunocompromised hosts are not clear. We provide clinical, immunological, virological, histological data on a cohort 28 broad spectrum IEI RuV-associated granulomas nine extracutaneous tissues to further delineate this relationship. Combined...
Infantile hemangiomas (IHs) are common benign tumors of childhood. IHs often regress satisfactorily without intervention, but a subset may lead to functional or cosmetic morbidity necessitating therapy. PHACE syndrome is characterized by variety neurocutaneous and vascular anomalies that typically include segmental hemangiomas. We present an infant with IH failed conventional first-line therapies. Treatment sirolimus provided benefit regression the cutaneous IH. As inhibitor mammalian target...
Proliferative (cellular) nodules (PN) which mimic malignant melanoma clinically and histologically are described in congenital melanocytic nevi (CMN) may pose significant diagnostic challenges. We report the case of a 10-day-old male with giant nevus involving neck, upper chest, back, left shoulder containing several nodular lesions, some crusted. Biopsy nodule revealed densely packed cells hyperchromatic round to oval occasionally irregularly shaped nuclei. There was no necrosis or pushing...
Psoriasis commonly affects children and adolescents, the need for safe, effective therapy is a special consideration in pediatric population. In recent years, use of targeted immunomodulatory biologic agents has been increasingly studied treatment psoriasis. Of these, etanercept, tumor necrosis factor-alpha antagonist, approved psoriasis psoriatic arthritis adults, while it juvenile rheumatoid arthritis, formal studies are needed to demonstrate its safety efficacy childhood We present our...
Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis Atrichia and Photophobia (IFAP) syndrome or without BRESHECK syndrome, keratosis follicularis spinulosa decalvans, Olmsted syndrome. This metalloprotease activates, by intramembranous trimming in conjunction the MBTPS1, regulatory factors involved sterol control of cellular stress response. In this study, 11 different MBTPS2 missense detected patients...
Mycoplasma pneumoniae is a highly specialized parasitic bacterium that significant cause of community-acquired pneumonia in children. Although most such respiratory infections are mild, minor percentage patients require hospitalization and, occasionally, intensive treatment for failure. A variety extrapulmonary sequelae M have been described, including Stevens-Johnson syndrome. Macrolide resistance has developed rapidly Asia, particularly China, over the past decade and now appearing United...
Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction scale to sites relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in literature. caused recessive, temperature-sensitive mutations transglutaminase-1 gene (TGM1). Clear genotype-phenotype correlations difficult establish because several same TGM1 BSI and other forms ichthyosis. We identify novel recurrent 16...
Margin evaluation of melanoma in situ (MIS) is difficult because its ill-defined clinical borders. Wood's light examination commonly used to help delineate MIS margin before excision.To prospectively study the accuracy preoperative for assessment MIS.The authors evaluated 60 patients excision under white and light. Staged was performed using square procedure technique. After achieving clear margins, they compared final wound size with expected if surgical margins had been based on...
Abstract Objective Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disorder that predominantly affects children and young people. The pathophysiology molecular mechanisms of CNO remain poorly understood, diagnostic criteria biomarkers are lacking. As a result, treatment empiric follows personal experience, case series expert consensus plans. Methods A survey was designed to gain insight on clinician patient experiences diagnosing treating collate opinions research...
Skin neurofibromas represent one of the main clinical manifestations neurofibromatosis 1, and their number varies greatly between individuals. Quantifying is an important step in methodology many studies, but counting by individuals with thousands tumors arduous, time-consuming, subject to intra interexaminer variability. We aimed evaluate efficacy a new for skin quantification using paper frames. The sample comprised 92 NF1. Paper frames, central square measuring 100 cm2, were placed on...
Variants in
Abstract: Atrichia with papular lesions is a rare form of complete, irreversible alopecia that inherited in an autosomal recessive manner. Several studies have implicated mutations the human hairless gene as underlying cause this disorder. We describe two novel heterozygous exons 3 and 8 2‐year‐old Caucasian boy complete his scalp. These add to growing literature found nonconsanguineous families expands allelic series gene.