26 results on '"Tamburro J"'
Search Results
2. A Case of Kaposiform Hemangioendothelioma and Kasabach-Merritt Phenomenon
- Author
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Shackelford, K., primary, Tamburro, J., additional, and Billings, S.D., additional
- Published
- 2005
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3. A custom 3D printed paddlewheel improves growth in flat panel photobioreactor.
- Author
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Meagher M, Tamburro J, and Boyle NR
- Subjects
- Microalgae growth & development, Microalgae metabolism, Oxygen metabolism, Photobioreactors, Printing, Three-Dimensional
- Abstract
One of the main challenges with using flat panel photobioreactors for algal growth is uneven mixing and settling of cells in corners, especially when bubbling is the only method used for mixing. In order to improve mixing in our flat panel reactor, we designed a custom paddlewheel. Paddlewheels are frequently used in outdoor algae raceway ponds to improve mixing and we are taking advantage of the same principle for mixing in the reactor. The paddlewheel is easily integrated into our PSI FMT150 1-L flat panel photobioreactor and is printed on a 3D printer using high temperature poly lactic acid (HT-PLA). With the inclusion of an annealing step, the paddlewheel is autoclavable. Addition of the paddlewheel in the reactor minimized cell settling and improved algal growth, as evidenced by a nearly 40% increase in oxygen production rates. Nutrient dispersion and utilization in the culture was also improved as evidenced by a corresponding 38% decrease in CO
2 concentration. The paddlewheel device presented here is a cost-effective method for improving algal growth in a flat panel photobioreactor., (© 2024 American Institute of Chemical Engineers.)- Published
- 2024
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4. Development of chilblain lesions during the COVID-19 pandemic is strongly associated with cold weather: a retrospective analysis of patients from a single centre in the USA.
- Author
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Muser I, Gallop J, Narang J, Flatley EM, Tamburro J, Riegert M, and Fernandez AP
- Subjects
- Humans, Retrospective Studies, Pandemics, Cold Temperature, COVID-19 epidemiology, COVID-19 complications, Chilblains etiology, Chilblains complications
- Abstract
Competing Interests: Conflicts of interest A.P.F. has received fees from AbbVie (research, consulting and speaking); Biogen (consulting); BMS (consulting); Novartis (research, consulting); Mallinckrodt (research, consulting, unbranded speaking); Kyowa Kirin (unbranded speaking); Pfizer (grant support); and UCB (consulting). The remaining authors report no conflicts of interest.
- Published
- 2024
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5. Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study.
- Author
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Morgan FC, Yehia L, McDonald C, Martinez-Agosto JA, Hardan AY, Tamburro J, Sahin M, Bayart C, and Eng C
- Subjects
- Humans, Retrospective Studies, Cohort Studies, PTEN Phosphohydrolase genetics, Hamartoma Syndrome, Multiple complications, Hamartoma Syndrome, Multiple epidemiology, Hamartoma Syndrome, Multiple genetics, Carcinoma, Squamous Cell complications, Skin Neoplasms epidemiology, Skin Neoplasms genetics, Skin Neoplasms complications, Melanoma complications, Vascular Malformations complications, Papilloma
- Abstract
Background: Dermatologic phenotypes in PTEN hamartoma tumor syndrome (PHTS) are heterogeneous and poorly documented., Objective: To characterize dermatologic findings among PHTS and conduct an analysis of genotype-dermatologic phenotype associations., Methods: Mucocutaneous findings were reviewed in a multicenter cohort study of PHTS. Genotype-dermatologic phenotype associations were tested using multivariable regression., Results: A total of 201 patients were included. Children were significantly less likely than adults to have oral papillomas, vascular malformations, benign follicular neoplasms, and acral keratoses. There were no cases of skin cancer among children. Basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma developed in 5%, 2%, and 1% of White adults, respectively. After adjusting for age, missense mutations were associated with 60% lower odds of developing cutaneous papillomatous papules (odds ratio: 0.4; 95% confidence interval [0.2, 0.7]), oral papillomas (0.4; 95% confidence interval [0.2, 0.9]), and vascular malformations (0.4; 95% confidence interval [0.2, 0.8])., Limitations: Partly retrospective data., Conclusion: Children are less likely than adults to have certain dermatologic findings, likely due to age-related penetrance. The risk of pediatric melanoma and the lifetime risk of nonmelanoma skin cancer in PHTS may not be elevated. Missense variants may be associated with the development of fewer dermatologic findings but future validation is required., Competing Interests: Conflicts of interest None disclosed., (Copyright © 2022 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
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6. Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.
- Author
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Yehia L, Plitt G, Tushar AM, Joo J, Burke CA, Campbell SC, Heiden K, Jin J, Macaron C, Michener CM, Pederson HJ, Radhakrishnan K, Shin J, Tamburro J, Patil S, and Eng C
- Subjects
- Young Adult, Humans, Child, Female, Adult, Adolescent, Middle Aged, Cohort Studies, Prospective Studies, Longitudinal Studies, Genetic Predisposition to Disease, PTEN Phosphohydrolase genetics, Hamartoma Syndrome, Multiple epidemiology, Hamartoma Syndrome, Multiple pathology, Neoplasms, Second Primary, Melanoma
- Abstract
Importance: Identifying hereditary cancer predisposition facilitates high-risk organ-specific cancer surveillance and prevention. In PTEN hamartoma tumor syndrome (PHTS), longitudinal studies remain lacking, and there are insufficient data on cancers in children and young adults, as well as individuals with neurodevelopmental disorders (NDD)., Objective: To evaluate lifetime cancer risks, including second malignant neoplasms (SMN), among patients with PHTS., Design, Setting, and Participants: Prospective longitudinal cohort study (September 1, 2005, through January 6, 2022). General population risks from the Surveillance, Epidemiology, and End Results database. Patients with PHTS, molecularly defined as carrying germline PTEN variants, were accrued from community and academic medical centers throughout North America, South America, Europe, Australia, and Asia. Data were analyzed from July 2022 to February 2023., Exposures: Review of physical and electronic medical records, and follow-up through clinical visits or telephone interviews., Main Outcomes and Measures: Lifetime cancer risks in PHTS relative to the general population., Results: A total of 7302 patients were prospectively accrued, 701 of whom had germline PTEN variants (median [IQR] age at consent, 38 [12-52] years; 413 female patients [59%]). Longitudinal follow-up data could be obtained for 260 patients (37%), with a median (IQR) follow-up of 4 (2-8) years. Of the 701 patients, 341 (49%) received at least 1 cancer diagnosis, with 144 (42%) of those having SMN. The study found significantly elevated lifetime risks for breast (91%), endometrial (48%), thyroid (33%), kidney (30%), and colorectal cancers (17%), as well as melanoma (5%). Cancer diagnoses were also observed in children and young adults with PHTS (15%) and in patients with PHTS with neurodevelopmental disorders (11%). Elevated risks (P < .001) of thyroid (age-adjusted standardized incidence ratios [SIR], 32.1; 95% CI, 26.0-39.0), kidney (SIR, 26.5; 95% CI, 18.8-36.3), endometrial (SIR, 26.0; 95% CI, 19.5-34.1), breast (SIR, 20.3; 95% CI, 17.3-23.7), and colorectal (SIR, 7.9; 95% CI, 5.2-11.7) cancers, and melanoma (SIR, 6.3; 95% CI, 3.5-10.5) were observed. Of the 341 patients with PHTS with cancer, 51 (15%) had 1 or more cancers diagnosed at age 29 years or younger, and 16 (31.4%) of those developed SMN at final follow-up. Twenty-three patients with PHTS with NDD and cancer were identified, with 5 (22%) having developed SMN at final follow-up. Individuals with PHTS and NDD showed higher lifetime cancer risks compared with individuals with PHTS but without NDD (hazard ratio, 2.7; 95% CI, 1.7-4.2; P < .001)., Conclusions and Relevance: This cohort study found consistently elevated lifetime cancer risks in PHTS. Organ-specific surveillance should continue in patients with PHTS. Additional study is required to ascertain elevated cancer risks in patients with PHTS with NDD.
- Published
- 2023
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7. Giant Hemosiderotic Adenodermatofibroma: A Case Report and Review of the Literature.
- Author
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Ha MV, Andrasik WJ, and Tamburro J
- Subjects
- Female, Humans, Adult, Fibroblasts pathology, Histiocytes pathology, Skin Neoplasms pathology, Histiocytoma, Benign Fibrous pathology, Hemosiderosis pathology
- Abstract
Abstract: Adenodermatofibromas are an extremely rare subtype of dermatofibroma (DF) characterized by a dermal proliferation of spindle-shaped fibroblasts and histocytes, dilated glandular structures with apocrine secretion, and prominent vascular proliferation, with or without hemosiderotic features. We describe a recent extraordinary case of a hemosiderotic adenodermatofibroma in a 25-year-old female. We review histologic findings and theories behind etiology, as well as review the spectrum of clinical presentations for this lesion. We also discuss imaging findings that may make identification of these entities challenging., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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8. Melanocytic Nevi in Children: Clinical Features and When to Worry.
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Muser IM and Tamburro J
- Subjects
- Child, Humans, Nevus, Pigmented diagnosis, Nevus, Pigmented therapy, Skin Neoplasms diagnosis, Skin Neoplasms therapy
- Published
- 2022
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9. Congenital syphilis: Missed opportunities and the case for rescreening during pregnancy and at delivery.
- Author
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O'Connor NP, Gonzalez BE, Esper FP, Tamburro J, Kadkhoda K, and Foster CB
- Abstract
Two infants treated for syphilis born to at risk mothers who screened negative at their first prenatal visit but were not rescreened at delivery are described. The first presented with classic, but unrecognized, features of congenital syphilis. In the second case, possible early maternal syphilis was diagnosed soon after delivery using the treponemal first reverse-screening algorithm. Although the child's physical exam was normal and the maternal rapid plasma reagin (RPR) negative, the child was treated for syphilis because maternal confirmatory treponemal tests suggested recent seroconversion. Given the re-emergence of congenital syphilis, our report aims to demonstrate the importance of rescreening women at increased risk and improve awareness of common manifestations of the syphilis disease in the newborn. For women at increased risk, repeat syphilis testing early in the third trimester and again at delivery in communities and populations with a high prevalence of syphilis is recommended., Competing Interests: The authors have no conflicts of interest to disclose., (© 2020 The Authors. Published by Elsevier Ltd.)
- Published
- 2020
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10. Brimonidine Toxicity Secondary to Topical Use for an Ulcerated Hemangioma.
- Author
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Gill K, Bayart C, Desai R, Golden A, Raimer P, and Tamburro J
- Subjects
- Administration, Topical, Adrenergic beta-Antagonists administration & dosage, Apnea chemically induced, Brimonidine Tartrate administration & dosage, Female, Hemangioma, Capillary complications, Humans, Hypothermia chemically induced, Infant, Ophthalmic Solutions, Respiration, Artificial, Respiratory Distress Syndrome, Newborn chemically induced, Timolol administration & dosage, Adrenergic alpha-Agonists toxicity, Brimonidine Tartrate toxicity, Hemangioma, Capillary drug therapy, Skin Neoplasms drug therapy, Skin Ulcer drug therapy
- Abstract
Combigan (Allergan, Irvine, CA) is an ophthalmic solution that combines 0.2% brimonidine, a selective α-2 adrenergic agonist, with 0.5% timolol, a nonselective β-adrenergic antagonist. It is approved for the reduction of intraocular pressure in patients with glaucoma or ocular hypertension. There have been recent reports of successful treatment of superficial infantile hemangiomas (IHs) using Combigan topically. We report the case of a 2-month-old girl who developed life-threatening brimonidine toxicity requiring intubation and mechanical ventilation secondary to central nervous system depression and apnea after topical application to an ulcerated IH., (© 2016 Wiley Periodicals, Inc.)
- Published
- 2016
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11. Beta Blockade as Treatment for Intracranial Infantile Hemangioma: Case Report and Literature Review.
- Author
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Kang E, Friedman N, Mamoun I, Tamburro J, and Golden A
- Subjects
- Administration, Oral, Brain Neoplasms diagnostic imaging, Hemangioma diagnostic imaging, Humans, Infant, Male, Adrenergic beta-Antagonists therapeutic use, Antineoplastic Agents therapeutic use, Brain Neoplasms drug therapy, Hemangioma drug therapy, Propranolol therapeutic use
- Abstract
Background: Intracranial infantile hemangiomas are extremely rare, with only 36 patients reported in literature. Treatment for intracranial infantile hemangiomas has been mostly limited to surgery, steroids, and interferon therapy. Propranolol, which is often used to treat cutaneous infantile hemangiomas, is not currently standard treatment for intracranial infantile hemangiomas., Patient Description: We present a one-month old boy with an intracranial infantile hemangioma treated with propranolol., Results: This boy was being treated with oral propranolol for a supraclavicular infantile hemangioma. Subsequent brain magnetic resonance imaging (MRI) scan showed evidence of an associated intracranial infantile hemangioma in the right cerebellopontine angle. Repeat brain MRI scan after two months of propranolol treatment demonstrated a significant reduction in the size of the intracranial infantile hemangioma., Conclusions: This is the first report of successful therapy of an intracranial infantile hemangioma with propranolol., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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12. Propranolol for Treatment of Genital Infantile Hemangioma.
- Author
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Tran C, Tamburro J, Rhee A, and Golden A
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Male, Retrospective Studies, Treatment Outcome, Genital Neoplasms, Female drug therapy, Genital Neoplasms, Male drug therapy, Hemangioma drug therapy, Propranolol therapeutic use
- Abstract
Purpose: Genital infantile hemangiomas are vascular anomalies that often require complex management and interdisciplinary care. Propranolol was first used to treat patients with infantile hemangiomas in 2008 and has since gained acceptance as first-line therapy., Materials and Methods: We review the presentation, course, management and outcomes of all cases of genital infantile hemangiomas managed by propranolol administration at a single institution from April 2010 to July 2014., Results: During the study period 9 patients with genital infantile hemangiomas were referred to our hemangioma treatment clinic. Propranolol was initially administered under careful outpatient monitoring at a dose of 1 mg/kg daily in 8 patients. One patient, a 700 gm premature infant, was started on therapy in the inpatient setting at 0.5 mg/kg daily, given the history of prematurity. All patients underwent successful increase of dose to at least 2 mg/kg for the observation phase after tolerating the starting doses. One patient discontinued propranolol prematurely per parental request due to concern regarding peripheral vasoconstriction. Otherwise, no patient demonstrated significant hypotension, symptomatic bradycardia, hypoglycemia or other major side effect requiring treatment discontinuation. All patients who continued the treatment protocol had excellent response to therapy., Conclusions: Propranolol therapy for genital infantile hemangiomas was successfully initiated and the dosage increased in 9 young children without significant side effects and with marked improvement in all patients who continued on treatment. Propranolol is the only Food and Drug Administration approved therapy for treatment of patients with this vascular anomaly and should be considered first-line therapy for genital infantile hemangiomas., (Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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13. Dermatology for the pediatrician: Advances in diagnosis and treatment of common and not-so-common skin conditions.
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Tamburro J
- Subjects
- Child, Humans, Pediatrics, Skin Diseases diagnosis, Skin Diseases therapy
- Abstract
Advances have been made in understanding and treating both common and rare dermatologic conditions. Atopic dermatitis benefits from bathing and ceramide moisturizers. Common allergic contact dermatitis may have specific presentations. Tinea capitis is effectively treated with terbinafine. Infantile hemangiomas should be treated early in the disease course and respond well to propranolol; any white sign of ulceration should be noted. Localized alopecia areata responds well to topical clobetasol, avoiding the need for intralesional injections. Topical rapamycin can be used to treat tuberous sclerosis. Further understanding of genetics will help guide pediatricians to the proper diagnosis and treatment of skin conditions., (Copyright © 2015 Cleveland Clinic.)
- Published
- 2015
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14. Colocalization of vitiligo and alopecia areata presenting as poliosis.
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Walker A, Mesinkovska NA, Boncher J, Tamburro J, and Bergfeld WF
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- Alopecia Areata complications, Alopecia Areata diagnosis, Child, Diagnosis, Differential, Humans, Male, Scalp pathology, Vitiligo complications, Vitiligo diagnosis, Alopecia Areata pathology, Vitiligo pathology
- Abstract
Vitiligo and alopecia areata are two cutaneous diseases believed to be primarily autoimmune in pathogenesis. While the coexistence of the two conditions in the same patient has been well-described, reports of the two disease processes occurring in the same location are rare. We report the case of a 10-year-old male with an unremarkable past medical history who presented with a single localized area of poliosis with depigmented underlying skin on the frontal scalp. The hair in the affected area was relatively decreased in density. A punch biopsy of the depigmented patch demonstrated features consistent with both vitiligo and alopecia areata. The decreased number of large hair follicles and a focal peribulbar lymphocytic infiltrate around an anagen follicle were suggestive of alopecia areata. A panel of melanocyte-specific stains revealed absent melanocytes in the epidermis, consistent with vitiligo. Loss of microphthalmia-associated transcription factor-positive root sheath cells was seen, suggestive of loss of melanocyte stem cells. The combination of clinical and histopathologic findings supports the theory of a common pathogenesis of alopecia areata and vitiligo., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2015
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15. Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
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Kittridge A, Patel R, Novoa R, and Tamburro J
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- DNA Mutational Analysis, Epidermolysis Bullosa, Junctional diagnosis, Fatal Outcome, Humans, Infant, Newborn, Male, Kalinin, Cell Adhesion Molecules genetics, Epidermolysis Bullosa, Junctional genetics, Mutation
- Abstract
Herlitz junctional epidermolysis bullosa (H-JEB) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein. Here we report a case of H-JEB with a novel heterozygous mutation in LAMB3,c.1597G>A (p.Ala533Thr). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic-genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future., (© 2012 Wiley Periodicals, Inc.)
- Published
- 2014
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16. PHOTO QUIZ. An unusual periorbital rash in a child.
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Weaver G, Newmyer R, Yeo KT, Jacobs MR, Tamburro J, Isham NC, Ghannoum M, and Gonzalez BE
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- Child, Exanthema microbiology, Exanthema pathology, Humans, Microbiological Techniques methods, Microscopy, Mycology methods, Face microbiology, Face pathology, Tinea diagnosis, Tinea pathology, Trichophyton isolation & purification
- Published
- 2012
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17. Aquagenic wrinkling of the palms and the potential role for genetic testing.
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Park L, Khani C, and Tamburro J
- Subjects
- Adolescent, Child, Cystic Fibrosis genetics, Female, Genetic Testing, Hand Dermatoses etiology, Humans, Immersion adverse effects, Hand pathology, Hand Dermatoses genetics, Hand Dermatoses pathology, Skin Aging genetics, Skin Aging pathology, Water adverse effects
- Abstract
Aquagenic wrinkling of the palms (AWP) is a condition characterized by excessive wrinkling, palmar edema, and whitish papules accompanied by pain, pruritus, or discomfort after brief immersion of the hands in water. It is well documented to be associated with cystic fibrosis (CF), with several theories regarding the pathogenesis having been proposed. We report a case of two sisters with AWP in whom CF has not been diagnosed and review the literature on AWP and its association with CF and CF carrier status. Because diagnosis of mild forms CF or knowledge of an underlying CF genetic mutation is frequently unknown, identification of AWP may represent the only sign of such mutations. The dermatologist plays an integral role in early detection of AWP, and the importance of genetic testing in such patients cannot be overlooked. We recommend various measures to apply in clinical practice to ensure diagnosis and decrease morbidity and mortality in patients., (© 2011 Wiley Periodicals, Inc.)
- Published
- 2012
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18. Rapid cutaneous dissemination of persistently agminated lymphomatoid papulosis in a 9-year-old boy.
- Author
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Chan DV, Staidle J, Tamburro J, and Mostow E
- Subjects
- Child, Disease Progression, Fluocinonide administration & dosage, Glucocorticoids administration & dosage, Humans, Lymphomatoid Papulosis diagnosis, Lymphomatoid Papulosis drug therapy, Male, Skin Neoplasms diagnosis, Skin Neoplasms drug therapy, Skin Neoplasms pathology, Treatment Outcome, Fluocinonide therapeutic use, Glucocorticoids therapeutic use, Lymphomatoid Papulosis pathology
- Published
- 2011
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19. Perforating folliculitis in a patient with cystic fibrosis.
- Author
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Tuttle MS, Kwon EJ, Tamburro J, and Honda K
- Subjects
- Adolescent, Biopsy, Humans, Male, Cystic Fibrosis complications, Folliculitis complications, Folliculitis pathology, Skin pathology
- Abstract
We report a case of a young man with perforating folliculitis and cystic fibrosis with complications including chronic obstructive pulmonary disease, insulin dependent diabetes mellitus, and liver cirrhosis. We demonstrate increased TGF-β1 immunohistochemical staining in the perforating folliculitis lesions of our patient and discuss the possible associations between cystic fibrosis and perforating folliculitis., (© 2010 Wiley Periodicals, Inc.)
- Published
- 2010
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20. Disseminated varicella zoster virus in an immunized child as the acquired immunodeficiency syndrome-defining illness.
- Author
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Chilek K, Routhouska S, and Tamburro J
- Subjects
- Acquired Immunodeficiency Syndrome transmission, Child, Herpes Zoster drug therapy, Herpes Zoster Vaccine administration & dosage, Herpes Zoster Vaccine immunology, Humans, Infectious Disease Transmission, Vertical, Male, Acquired Immunodeficiency Syndrome complications, Herpes Zoster diagnosis, Herpes Zoster immunology, Herpesvirus 3, Human, Immunocompromised Host
- Abstract
Varicella zoster virus (VZV) immunization aids in the prevention of future VZV infections in immunocompetent patients; however, severely immunocompromised patients remain at increased risk of VZV infection. We report a case of a 10-year-old boy previously immunized to Varicella who presented with herpes zoster with hematogenous dissemination as the Acquired Immunodeficiency Syndrome-defining illness. Disseminated VZV is more commonly seen in human immunodeficiency virus (HIV)-infected individuals with more advanced disease, as was the case with our patient. Disseminated VZV infection in a previously immunized child should raise suspicion for underlying immunosuppression.
- Published
- 2010
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21. Metastatic cutaneous Crohn's disease in children: case report and review of the literature.
- Author
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Keiler S, Tyson P, and Tamburro J
- Subjects
- Adolescent, Biopsy, Colonoscopy, Crohn Disease pathology, Female, Humans, Skin Diseases pathology, Vulvitis pathology, Crohn Disease complications, Skin Diseases etiology, Vulvitis etiology
- Abstract
Metastatic cutaneous Crohn's disease is a rare complication of Crohn's disease, especially in the pediatric population, and can present a diagnostic dilemma. Most of the reported cases of metastatic cutaneous Crohn's disease in childhood have concurrent gastrointestinal symptoms and/or perianal disease to aid in the diagnosis. We present a case of a 13 1/2-year-old girl whose initial symptom of Crohn's disease was asymptomatic labial swelling. An overview of metastatic cutaneous Crohn's disease in childhood is also provided.
- Published
- 2009
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22. Pagetoid reticulosis in a 5-year-old boy.
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Miedler JD, Kristjansson AK, Gould J, Tamburro J, and Gilliam AC
- Subjects
- CD8 Antigens analysis, Child, Preschool, Electrons, Humans, Male, Mycosis Fungoides radiotherapy, Skin Neoplasms radiotherapy, Mycosis Fungoides pathology, Skin Neoplasms pathology
- Abstract
We present a rare case of pagetoid reticulosis arising in a 5-year-old white boy. He had a history of a large chronic erythematous, scaly patch on his left buttock that had shown intermittent partial response to a topical antifungal medication. A punch biopsy specimen revealed dramatic epidermal hyperplasia, with parakeratosis and prominent exocytosis of single and clustered mononuclear cells (Pautrier's microabscesses) into the epidermis. Some of these exhibited hyperchromatic nuclei with irregular contours. They stained prominently for CD3, CD4, and CD8, with a predominance of CD8(+) cells. T-cell receptor gene rearrangement by polymerase chain reaction was negative for a clonal process on a second biopsy specimen that was nondiagnostic on routine sections. Pagetoid reticulosis is an indolent, unilesional variant of mycosis fungoides, in which the atypical T cells may express a CD4(-)/CD8(+) phenotype. This is in contrast to primary cutaneous epidermotropic CD8(+) cytotoxic T-cell lymphoma, which is often very aggressive with a poor outcome. Pagetoid reticulosis is exceedingly rare in children and adolescents. Two features predict a benign course in this 5-year-old child: the unilesional clinical presentation and the CD8 predominance of the epidermal lymphocytes.
- Published
- 2008
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23. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association.
- Author
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Drolet BA, Dohil M, Golomb MR, Wells R, Murowski L, Tamburro J, Sty J, and Friedlander SF
- Subjects
- Central Nervous System Vascular Malformations, Eye Abnormalities, Female, Humans, Infant, Infant, Newborn, Male, Neurocutaneous Syndromes complications, Syndrome, Facial Neoplasms, Hemangioma, Neurocutaneous Syndromes diagnosis, Stroke complications
- Abstract
PHACE association is a rare neurocutaneous syndrome that may include posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. The arterial abnormalities may be developmental or acquired and usually involve the cervical and cerebral vasculature. We believe that infants with PHACE association are at increased risk of arterial ischemic stroke and describe 5 infants with facial hemangiomas and structural and acquired arterial anomalies, all of whom suffered an arterial ischemic stroke during infancy.
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- 2006
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24. Cutaneous manifestations of hyper-IgE syndrome in infants and children.
- Author
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Chamlin SL, McCalmont TH, Cunningham BB, Esterly NB, Lai CH, Mallory SB, Mancini AJ, Tamburro J, and Frieden IJ
- Subjects
- Anti-Bacterial Agents therapeutic use, Biopsy, Diagnosis, Differential, Eczema diagnosis, Eczema drug therapy, Female, Humans, Immunoglobulin E blood, Infant, Infant Welfare, Infant, Newborn, Job Syndrome diagnosis, Job Syndrome drug therapy, Male, Recurrence, Skin pathology, gamma-Globulins therapeutic use, Eczema etiology, Job Syndrome complications
- Abstract
We describe 8 children with hyper-IgE syndrome who had papulopustular eruption on the face and scalp in the first year of life. Seven of the 8 patients had persistent peripheral eosinophilia and 3 had leukocytosis noted before diagnosis. Skin biopsy specimens in 6 patients revealed spongiosis and perivascular dermatitis and/or folliculitis with a predominance of eosinophils. Two patients had bone fractures and osteopenia. Recurrent pneumonia occurred in 6 children and pneumatoceles in 5. The diagnosis of hyper-IgE syndrome was made an average of 18 months after the onset of the initial papulopustular eruption. These findings may lead to earlier recognition of the disease and institution of appropriate treatment.
- Published
- 2002
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25. Hypersensitivity syndromes.
- Author
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Tamburro JE and Esterly NB
- Subjects
- Adolescent, Angioedema, Drug Eruptions, Erythema Multiforme, Female, Humans, Male, Panniculitis, Serum Sickness, Stevens-Johnson Syndrome, Urticaria, Vasculitis, Leukocytoclastic, Cutaneous, Skin Diseases
- Abstract
The hypersensitivity syndromes are a group of diseases in which the cutaneous vasculature is altered through immunologic or nonimmunologic mechanisms. These reactions range in severity from mild to life-threatening and can be triggered by drugs, infectious agents, foods, or environmental allergens. Although their causes may vary, the morphologic appearance of these entities may be similar making a clinical diagnosis a challenge.
- Published
- 2001
26. Isolated and Classic Cutis Marmorata Telangiectatica Congenita
- Author
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Tamburro J, Traboulsi EI, Patel MS, Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, and Amemiya A
- Abstract
Clinical Characteristics: Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely., Diagnosis/testing: A molecular diagnosis can be established in a proband with suggestive cutaneous findings if a mosaic heterozygous pathogenic variant in GNA11 is identified by molecular genetic testing., Management: Treatment of medical manifestations: Most cutaneous changes improve or resolve with time and do not require intervention. Serial exams with photography are helpful. Persistent CMTC vascular lesions may be addressed with frequency-doubled Nd:YAG, Q-switched alexandrite, and pulsed dye laser therapy, although outcomes are mixed depending on the severity and depth of the lesions. Skin ulceration is usually treated by a qualified ulcer team with advanced knowledge in pain control. Intense pulsed light therapy may be considered to aid in ulcer improvement and faster healing. Lumbar sympathetic blockade may be considered for those with chronic pain and temperature dysregulation. Shoe lifts or orthotics may be considered in those with mild leg length discrepancies, and epiphysiodesis or limb lengthening may be considered in severe cases. Weakness is typically addressed through physical therapy. Standard treatment per ophthalmologist for glaucoma and peripheral retinal vascular abnormalities is recommended. Treatment of psychosocial issues : Parents should be counseled on how to deal with child abuse accusations that may occur when individuals (including care providers and strangers) who are not familiar with CMTC happen to see their child's skin lesions. Self-esteem issues can be a major problem for affected individuals and may be addressed proactively through resiliency training and bibliotherapy. People unfamiliar with the condition are often worried that the condition may be contagious, so providing this information up front can defuse unwanted curiosity. Surveillance: Close monitoring of the skin for early signs of impending ulceration as determined at initial evaluation; assessment for pain, weakness, and temperature dysregulation at each visit; annual monitoring of limb lengths and girth until skeletal maturity; ophthalmologic evaluation to include measurement of intraocular pressure and consideration of peripheral retinal vascular imaging every six months for the first four years of life, then annually (throughout lifetime) or any time there is ocular pain or visible corneal clouding; annual monitoring of coping skills related to visible physical differences starting at school age. Agents/circumstances to avoid : Blood draws or IV placement in an affected limb; cold exposure., Genetic Counseling: Isolated and classic CMTC are typically not inherited. Most affected individuals represent simplex cases. Vertical transmission of a GNA11 pathogenic variant has not been reported to date. The risk to sibs of a proband with somatic mosaicism for a pathogenic variant in GNA11 would be expected to be the same as in the general population. Rarely, autosomal dominant inheritance has been reported in families with a clinical diagnosis of isolated or classic CMTC (i.e., families in which a GNA11 pathogenic variant has not been identified). Sib recurrence in families with a clinical diagnosis of isolated or classic CMTC has been described but is very rare. Because vertical transmission of a mosaic GNA11 pathogenic variant has not been reported to date and clinically diagnosed isolated and classic CMTC is usually not inherited, risk to family members is presumed to be very low., (Copyright © 1993-2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.)
- Published
- 1993
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