scholarly journals 1711. Histoplasmosis-Associated Hemophagocytic Lymphohistiocytosis: A Case Series and Review of the Literature

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S627-S628
Author(s):  
Ra’ed Jabr ◽  
Wissam El Atrouni ◽  
Heather Male ◽  
Kassem Hammoud
Keyword(s):  
Amphotericin B ◽  
Current Literature ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Medical Records ◽  
Chart Review ◽  
Case Reports ◽  
Specific Treatment ◽  
Case Series ◽  
Limited Data ◽  
Inpatient Mortality

Abstract Background Histoplasmosis is an endemic fungal disease with a spectrum of presentations from asymptomatic, mild to disseminated infections. Histoplasmosis-associated hemophagocytic lymphohistiocytosis (HLH) is a rare disorder with limited data regarding treatment and outcome. We described the clinical features, treatment, and outcomes of five patients. This review also summarized the current literature about presentation, treatment, and outcome of this infection-related HLH entity. Methods We searched the electronic medical records for patients with histoplasmosis-associated HLH at our institution from January 1, 2006 to September 30, 2017. Diagnosis of HLH was confirmed and by chart review according to HLH-04 criteria. We also searched the current literature for case reports and case series of this entity. Results We reported five cases of histoplasmosis-associated HLH during this period. All patients were diagnosed after 2010, this may be explained in part by increased awareness of this entity. The literature review yielded 60 cases of histoplasmosis-associated HLH. Among all patients (65 patients), the most common underlying condition was HIV in 61% of all patients. The majority of histoplasmosis patients were treated with amphotericin B formulation in 81%. The specific treatment for HLH was as follows: nine patients received steroids only, six patients received intravenous immunoglobulin (IVIG) only, three patients received dexamethasone and etoposide, two patients received etoposide, dexamethasone, and cyclosporine, two patients received steroids and IVIG, and one patient received Anakinra and IVIG. The inpatient mortality rate was 31% with most of the deaths occurring within 2 weeks of hospital admission. Conclusion Histoplasmosis-associated HLH among adults is an uncommon but aggressive disease with multiorgan involvement. Early antifungal therapy with a lipid formulation amphotericin B is the most important part of the management. Initial HLH-specific immunosuppressive therapy with regimens such as the HLH-94 protocol is usually individualized. Disclosures All authors: No reported disclosures.

scholarly journals Histoplasmosis-Associated Hemophagocytic Lymphohistiocytosis: A Review of the Literature

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Ra’ed Jabr ◽  
Wissam El Atrouni ◽  
Heather J. Male ◽  
Kassem A. Hammoud
Keyword(s):  
Amphotericin B ◽  
Current Literature ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Chart Review ◽  
Case Reports ◽  
Case Series ◽  
Case Fatality ◽  
Limited Data ◽  
Clinical Presentations ◽  
Inpatient Case

Background. Histoplasmosis is an endemic fungal disease with diverse clinical presentations. Histoplasmosis-associated hemophagocytic lymphohistiocytosis (HLH) is a rare disorder with limited data regarding treatment and outcome. We described the clinical features, treatment, and outcomes of five patients in our institution with histoplasmosis-associated HLH. This review also summarizes the current literature about presentation, treatment, and outcome of this infection-related HLH entity. Methods. We searched the electronic medical records for patients with histoplasmosis-associated HLH at our institution from 1/1/2006 to 9/30/2017. Diagnosis of HLH was confirmed by chart review using the HLH-04 criteria. We also searched the current literature for case reports and case series. Results. Five cases of histoplasmosis-associated HLH were included from our institution. All five patients were diagnosed after 2010. The literature review yielded 60 additional cases of histoplasmosis-associated HLH. The most common underlying condition was HIV in 61% of cases. The majority of histoplasmosis patients (81%) were treated with amphotericin B formulations. Documented specific treatments for HLH were as follows: nine patients received steroids only, six patients received intravenous immunoglobulin (IVIG) only, three patients received dexamethasone and etoposide, two patients received etoposide, dexamethasone, and cyclosporine, two patients received steroids and IVIG, and one patient received Anakinra and IVIG. The inpatient case fatality rate was 31% with most of the deaths occurring within two weeks of hospital admission. Conclusions. Histoplasmosis-associated HLH among adults is an uncommon but serious complication with high associated mortality. Early antifungal therapy with a lipid formulation amphotericin B is critical. The initiation of immunosuppressive therapy with regimens like HLH-04 in this disease entity should be individualized.

scholarly journals Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

2021 ◽  
pp. 1-21
Author(s):  
Antonio Atalaia ◽  
Rabah Ben Yaou ◽  
Karim Wahbi ◽  
Annachiara De Sandre-Giovannoli ◽  
Corinne Vigouroux ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Case Reports ◽  
Phenotypic Expression ◽  
Genetic Diagnosis ◽  
Specific Treatment ◽  
Case Series ◽  
Treatment Recommendations ◽  
Scientific Data ◽  
Bibliographic Databases ◽  
Central Registry

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.

scholarly journals Cryptococcosis in pregnancy and the postpartum period: Case series and systematic review with recommendations for management

2019 ◽  
Vol 58 (3) ◽  
pp. 282-292
Author(s):  
Katelyn A Pastick ◽  
Elizabeth Nalintya ◽  
Lillian Tugume ◽  
Kenneth Ssebambulidde ◽  
Nicole Stephens ◽  
...  
Keyword(s):  
Survival Rate ◽  
Pregnant Women ◽  
Amphotericin B ◽  
Cryptococcal Meningitis ◽  
Treatment Guidelines ◽  
Case Reports ◽  
Case Series ◽  
First Trimester ◽  
Secondary Prophylaxis ◽  
Fetal Survival

Abstract Cryptococcal meningitis causes 15% of AIDS-related deaths. Optimal management and clinical outcomes of pregnant women with cryptococcosis are limited to case reports, as pregnant women are often excluded from research. Amongst pregnant women with asymptomatic cryptococcosis, no treatment guidelines exist. We prospectively identified HIV-infected women who were pregnant or recently pregnant with cryptococcosis, screened during a series of meningitis research studies in Uganda from 2012 to 2018. Among 571 women screened for cryptococcosis, 13 were pregnant, one was breastfeeding, three were within 14 days postpartum, and two had recently miscarried. Of these 19 women (3.3%), 12 had cryptococcal meningitis, six had cryptococcal antigenemia, and one had a history of cryptococcal meningitis and was receiving secondary prophylaxis. All women with meningitis received amphotericin B deoxycholate (0.7–1.0 mg/kg). Five were exposed to 200–800 mg fluconazole during pregnancy. Of these five, three delivered healthy babies with no gross physical abnormalities at birth, one succumbed to meningitis, and one outcome was unknown. Maternal meningitis survival rate at hospital discharge was 75% (9/12), and neonatal/fetal survival rate was 44% (4/9) for those mothers who survived. Miscarriages and stillbirths were common (n = 4). Of six women with cryptococcal antigenemia, two received fluconazole, one received weekly amphotericin B, and three had unknown treatment courses. All women with antigenemia survived, and none developed clinical meningitis. We report good maternal outcomes but poor fetal outcomes for cryptococcal meningitis using amphotericin B, without fluconazole in the first trimester, and weekly amphotericin B in place of fluconazole for cryptococcal antigenemia.

scholarly journals Cerebral Vein Thrombosis in the Antiphospholipid Syndrome: Analysis of a Series of 27 Patients and Review of the Literature

2021 ◽  
Vol 11 (12) ◽  
pp. 1641
Author(s):  
Alba Jerez-Lienas ◽  
Alexis Mathian ◽  
Jenifer Aboab ◽  
Isabelle Crassard ◽  
Miguel Hie ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Medical Records ◽  
Case Reports ◽  
Case Series ◽  
Autoimmune Disorder ◽  
Point Of View ◽  
Cerebral Vein ◽  
Review Of The Literature ◽  
Cerebral Vein Thrombosis ◽  
Vein Thrombosis

(1) Background: The Antiphospholipid Syndrome (APS) is a systemic autoimmune disorder characterized by arterial and/or venous thrombosis, pregnancy morbidity and raised titers of antiphospholipid antibodies. Cerebral vein thrombosis (CVT) is a rare form of cerebrovascular accident and an uncommon APS manifestation; the information in the literature about this feature consists of case reports and small case series. Our purpose is to describe the particular characteristics of CVT when occurs as part of the APS and compare our series with the patients published in the literature. (2) Methods: We conducted a retrospective observational study collecting data from medical records in three referral centers for APS and CVT, and a systematic review of the literature for CVT cases in APS patients. (3) Results: Twenty-seven APS patients with CVT were identified in our medical records, the majority of them diagnosed as primary APS and with the CVT being the first manifestation of the disease; additional risk factors for thrombosis were identified. The review of the literature yielded 86 cases, with similar characteristics as those of our retrospective series. (4) Conclusions: To our knowledge, our study is the largest CVT series in APS patients published to date, providing a unique point of view in this rare thrombotic manifestation.

scholarly journals Safety of Antimicrobials During Pregnancy: A Systematic Review of Antimicrobials Considered for Treatment and Postexposure Prophylaxis of Plague

2020 ◽  
Vol 70 (Supplement_1) ◽  
pp. S37-S50 ◽  
Author(s):  
Patricia A Yu ◽  
Emmy L Tran ◽  
Corinne M Parker ◽  
Hye-Joo Kim ◽  
Eileen L Yee ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Case Reports ◽  
Case Series ◽  
First Trimester ◽  
Neonatal Outcomes ◽  
Primary Sources ◽  
Limited Data ◽  
Postexposure Prophylaxis ◽  
Increased Risk ◽  
Adverse Pregnancy

Abstract Background The safety profile of antimicrobials used during pregnancy is one important consideration in the decision on how to treat and provide postexposure prophylaxis (PEP) for plague during pregnancy. Methods We searched 5 scientific literature databases for primary sources on the safety of 9 antimicrobials considered for plague during pregnancy (amikacin, gentamicin, plazomicin, streptomycin, tobramycin, chloramphenicol, doxycycline, sulfadiazine, and trimethoprim-sulfamethoxazole [TMP-SMX]) and abstracted data on maternal, pregnancy, and fetal/neonatal outcomes. Results Of 13 052 articles identified, 66 studies (case-control, case series, cohort, and randomized studies) and 96 case reports were included, totaling 27 751 prenatal exposures to amikacin (n = 9), gentamicin (n = 345), plazomicin (n = 0), streptomycin (n = 285), tobramycin (n = 43), chloramphenicol (n = 246), doxycycline (n = 2351), sulfadiazine (n = 870), and TMP-SMX (n = 23 602). Hearing or vestibular deficits were reported in 18/121 (15%) children and 17/109 (16%) pregnant women following prenatal streptomycin exposure. First trimester chloramphenicol exposure was associated with an elevated risk of an undescended testis (odds ratio [OR] 5.9, 95% confidence interval [CI] 1.2–28.7). Doxycycline was associated with cardiovascular malformations (OR 2.4, 95% CI 1.2–4.7) in 1 study and spontaneous abortion (OR 2.8, 95% CI 1.9–4.1) in a separate study. First trimester exposure to TMP-SMX was associated with increased risk of neural tube defects (pooled OR 2.5, 95% CI 1.4–4.3), spontaneous abortion (OR 3.5, 95% CI 2.3–5.6), preterm birth (OR 1.5, 95% CI 1.1–2.1), and small for gestational age (OR 1.6, 95% CI 1.2–2.2). No other statistically significant associations were reported. Conclusions For most antimicrobials reviewed, adverse maternal/fetal/neonatal outcomes were not observed consistently. Prenatal exposure to streptomycin and TMP-SMX was associated with select birth defects in some studies. Based on limited data, chloramphenicol and doxycycline may be associated with adverse pregnancy or neonatal outcomes; however, more data are needed to confirm these associations. Antimicrobials should be used for treatment and PEP of plague during pregnancy; the choice of antimicrobials may be influenced by these data as well as information about the risks of plague during pregnancy.

Adult Hemophagocytic Lymphohistiocytosis: Clinical Presentation and Follow-Up in a Consecutive Series of Ten Patients.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3845-3845
Author(s):  
Keisuke Shirai ◽  
Alberto Montero ◽  
Jesse Powell ◽  
Lydia Christiansen ◽  
John Lazarchick
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Case Reports ◽  
Case Series ◽  
Hematologic Malignancies ◽  
Neurological Involvement ◽  
Consecutive Series ◽  
Female Ratio ◽  
Etoposide Treatment ◽  
Male Female Ratio ◽  
Underlying Causes

Abstract Hemophagocytic Lymphohistiocytosis (HLH) is very rare in adults but can be fatal without treatment. Reports in adults are limited to case reports and very small case series. Clinically it is characterized by fever, hepatosplenomegaly, lymphadenopathy, severe cytopenias, hepatic dysfunction, coagulopathy, as well as neurological involvement. This syndrome is associated with diverse processes including: infection, rheumatologic, and hematologic malignancies. Presently, the underlying cause of HLH is unknown. We present a cosecutive series of 10 adults with HLH diagnosed at our institution between 2004–2006. All diagnoses were confirmed by pathology. The median age was 59 years (range: 18–73 years), and a male: female ratio of 4:1. All patients uniformly presented with fever. Half of the patients presented with evidence of hepatomegaly or splenomegaly. The most predominant laboratory abnormalities included: leukopenia or thrombocytopenia (100%), and elevation of liver enzymes (50%). EBV IgG was positive in 8 of 10 patients. The underline illnesses associated with HLH were diverse. The underlying causes were as follows; acute leukemia (n=2), infection (n=2), rheumatologic (n=2), post transplant (n=2) sickle cell disease (n=2), unknown (n=2). Mortality rate was 60% with a median survival time since diagnosis of 58 days. One patient is still on maintenance cyclosporin after etoposide treatment. One patient is on steroid and cytoxan. One patient recovered just with supportive care. In conclusion, due to the high morality rate associated with HLH, early treatment with immunosuppressant is warranted and attempts to identify underlying cause.

scholarly journals Visceral Leishmaniasis in pregnancy and vertical transmission: A systematic literature review on the therapeutic orphans

2021 ◽  
Vol 15 (8) ◽  
pp. e0009650
Author(s):  
Prabin Dahal ◽  
Sauman Singh-Phulgenda ◽  
Brittany J. Maguire ◽  
Eli Harriss ◽  
Koert Ritmeijer ◽  
...  
Keyword(s):  
Visceral Leishmaniasis ◽  
Pregnant Women ◽  
Amphotericin B ◽  
Vertical Transmission ◽  
Liposomal Amphotericin ◽  
Case Reports ◽  
Case Series ◽  
Liposomal Amphotericin B ◽  
Cochrane Central Register ◽  
In Pregnancy

Background Reports on the occurrence and outcome of Visceral Leishmaniasis (VL) in pregnant women is rare in published literature. The occurrence of VL in pregnancy is not systematically captured and cases are rarely followed-up to detect consequences of infection and treatment on the mother and foetus. Methods A review of all published literature was undertaken to identify cases of VL infections among pregnant women by searching the following database: Ovid MEDLINE; Ovid Embase; Cochrane Database of Systematic Reviews; Cochrane Central Register of Controlled Trials; World Health Organization Global Index Medicus: LILACS (Americas); IMSEAR (South-East Asia); IMEMR (Eastern Mediterranean); WPRIM (Western Pacific); ClinicalTrials.gov; and the WHO International Clinical Trials Registry Platform. Selection criteria included any clinical reports describing the disease in pregnancy or vertical transmission of the disease in humans. Articles meeting pre-specified inclusion criteria and non-primary research articles such as textbook, chapters, letters, retrospective case description, or reports of accidental inclusion in trials were also considered. Results The systematic literature search identified 272 unique articles of which 54 records were included in this review; a further 18 records were identified from additional search of the references of the included studies or from personal communication leading to a total of 72 records (71 case reports/case series; 1 retrospective cohort study; 1926–2020) describing 451 cases of VL in pregnant women. The disease was detected during pregnancy in 398 (88.2%), retrospectively confirmed after giving birth in 52 (11.5%), and the time of identification was not clear in 1 (0.2%). Of the 398 mothers whose infection was identified during pregnancy, 346 (86.9%) received a treatment, 3 (0.8%) were untreated, and the treatment status was not clear in the remaining 49 (12.3%). Of 346 mothers, Liposomal amphotericin B (L-AmB) was administered in 202 (58.4%) and pentavalent antimony (PA) in 93 (26.9%). Outcomes were reported in 176 mothers treated with L-AmB with 4 (2.3%) reports of maternal deaths, 5 (2.8%) miscarriages, and 2 (1.1%) foetal death/stillbirth. For PA, outcomes were reported in 88 mothers of whom 4 (4.5%) died, 24 (27.3%) had spontaneous abortion, 2 (2.3%) had miscarriages. A total of 26 cases of confirmed, probable or suspected cases of vertical transmission were identified with a median detection time of 6 months (range: 0–18 months). Conclusions Outcomes of VL treatment during pregnancy is rarely reported and under-researched. The reported articles were mainly case reports and case series and the reported information was often incomplete. From the studies identified, it is difficult to derive a generalisable information on outcomes for mothers and babies, although reported data favours the usage of liposomal amphotericin B for the treatment of VL in pregnant women.

scholarly journals P022 Anakinra for use in non- juvenile idiopathic arthritis (JIA) related haemophagocytic lymphohistiocytosis (HLH): evidence base and funding

2019 ◽  
Vol 104 (7) ◽  
pp. e2.26-e2
Author(s):  
Octavio Aragon Cuevas
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Case Reports ◽  
Case Series ◽  
Evidence Base ◽  
British Society ◽  
Paediatric Patients ◽  
Activation Syndrome

BackgroundNon JIA related HLH is a life-threatening complication that is increasingly recognised in paediatric patients, particularly in those who are unwell in the paediatric intensive care unit (PICU). Untreated or insufficiently treated HLH has a significant mortality rate (up to 53%).1AimTo review the evidence base for the use of anakinra in paediatric patients with non-JIA HLH refractory to systemic corticosteroids in patients who are not fit for treatment as per HLH 2004 protocol.MethodsA PubMed search with words ‘anakinra’ and ‘hemophagocytic lymphohistiocytosis’ was carried out on July 2018 to find out the evidence base with regards to the use of anakinra in non-JIA related HLH. Any published peer reviewed clinical studies or trials (including but not limited to retrospective or prospective controlled trials, comparative studies and observational/cohort studies) were considered. Case reports and series were considered if better evidence studies were not available. A recent case study from a tertiary paediatric centre will be used to illustrate the pathway followed to diagnose non-JIA related HLH and funding options.ResultsAlthough a protocol exists for primary HLH treatment (HLH 2004), including chemotherapy and stem cell transplantation,2 there is no consensus on how to treat secondary HLH. The literature mainly showed case reports and small case series,3 describing the use of anakinra collectively for 35 patients (median age 14 to 48 years) who met the HLH 2004 diagnostic criteria with an overall survival rate of up to 88% at time of discharge from the PICU3. Anakinra was used at standard doses always in combination with corticosteroids. Some patients also received intravenous immunoglobulin (IVIG) and ciclosporin at the discretion of the medical teams.ConclusionThe evidence for use of anakinra in non JIA secondary HLH is limited to retrospective observational studies and mostly restricted to adult populations. Despite this caveat, these studies have demonstrated that anakinra therapy alongside other non-etoposide immunomodulatory therapies is associated with an improvement in short term survival. In patients with multi-organ dysfunction, who are too unstable to receive the existing etoposide based HLH-2004 treatment regimen due to concerns regarding significant treatment toxicity, personalised non-etoposide therapies including dexamethasone, IVIG, ciclosporin and anakinra may be better tolerated and provide a bridge to future more standardised treatment. Evidence to date shows that relapse of secondary HLH is possible with ciclosporin therapy. In JIA related HLH, anakinra was considered better than ciclosporin at inducing remission and having a lower incidence of adverse effects,4 and NHS England granted funding for the treatment based on these findings. The available evidence did not show any serious adverse events related to anakinra.RecommendationsThis tertiary centre approved the use of anakinra for this patient and future patients with this indication despite lack of reimbursement from NHS England for the drug. An urgent interim policy review will be put together by a team of the British Society of Paediatric and Adolescent Rheumatology (BSPAR) and presented to the NHS England commissioners to seek funding for anakinra for paediatric patients with this indicationReferencesMiettunen, et al. Successful treatment of severe paediatric rheumatic disease-associated macrophage activation syndrome with interleukin-1 inhibition following conventional immunosuppressive therapy: case series with 12 patients. Rheumatology (Oxford) 2011;50:417–9Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124–31.Kumar B, Aleem S, Saleh H, Petts J, Ballas ZK. A Personalized Diagnostic and Treatment Approach for Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Adults. J Clin Immunol 2017;37:638–643Boom V, et al. Evidence-based diagnosis and treatment of macrophage activation syndrome in systemic juvenile idiopathic arthritis. Pediatr Rheumatol Online J 2015;13:55.

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

2019 ◽  
Vol 35 (3) ◽  
pp. 242-246 ◽  
Author(s):  
Grant L. Hom ◽  
Sashidaran Moodley ◽  
A. David Rothner ◽  
Manikum Moodley
Keyword(s):  
Children And Adolescents ◽  
Chart Review ◽  
Case Reports ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Individual Case ◽  
Disease Characteristics ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Dermatologic Manifestations

Background: Segmental neurofibromatosis was initially described by Miller and Sparks (1977) as manifestations of neurofibromatosis limited to a dermatomal, localized distribution. Now termed mosaic neurofibromatosis, previous literature described this disease in children and adolescents with individual case reports and small-numbered case series. This study presents a large series of children and adolescents with mosaic neurofibromatosis. Methods: A retrospective chart review of a single institution medical record database was performed on all cases of mosaic neurofibromatosis diagnosed between the years 1998 and 2017. Eligible subjects were determined by 2 criteria: (1) segmental or unilateral expression of one of more signs of NF I according to those outlined in the NIH criteria and (2) were under 18 years of age at the time of diagnosis. Select information extracted include location of clinical features, NF manifestations (neurofibromas, plexiform neurofibromas, café-au-lait spots, freckling, Lisch nodules), presence of a diffuse area of cutaneous hyperpigmentation, and other significant medical conditions. Results: Sixty-eight cases met established criteria. Average age at diagnosis was 8.28 ± 4.47 years. Thirty-seven (54%) were male and 31 (46%) were female. Localization of the dermatologic manifestations is as follows: left side in 28 (41%) cases, right side in 32 (47%) cases, and bilateral in 8 (11%) cases. Café-au-lait lesions appeared in 64 (94%) of cases and 14 (21%) had axillary and inguinal freckling. Conclusions: This study expands our understanding of the disease characteristics seen in children and adolescents with mosaic neurofibromatosis and confirms the need to focus on pigmentary changes in children with mosaic neurofibromatosis.

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