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1.
JAMA Dermatol ; 160(6): 621-630, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38656377

RESUMO

Importance: Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study. Objective: To examine the extent of stigma, dependence on disease visibility and severity, and association with mental health and quality of life (QOL) in chronic pediatric skin disease. Design, Setting, and Participants: A cross-sectional, single-visit study was conducted at 32 pediatric dermatology centers in the US and Canada from November 14, 2018, to November 17, 2021. Participants included patients aged 8 to 17 years with chronic skin disease and 1 parent. Main Outcomes and Measures: Using the Patient-Reported Outcomes Measurement Instrumentation System (PROMIS) Stigma-Skin, the extent of stigma with child-, caregiver-, and physician-assessed disease visibility (primary outcome) and severity was compared, as well as reduced QOL (assessed by Skindex-Teen), depression, anxiety, and poor peer relationships (PROMIS child and proxy tools) (secondary outcomes). Results: The study included 1671 children (57.9% female; mean [SD] age, 13.7 [2.7] years). A total of 56.4% participants had self-reported high disease visibility and 50.5% had moderate disease severity. Stigma scores significantly differed by level of physician-assessed and child/proxy-assessed disease visibility and severity. Among children with chronic skin disorders, predominantly acne, atopic dermatitis, alopecia areata, and vitiligo, only 27.0% had T scores less than 40 (minimal or no stigma) and 43.8% had at least moderate stigma (T score ≥45) compared with children with a range of chronic diseases. Stigma scores correlated strongly with reduced QOL (Spearman ρ = 0.73), depression (ρ = 0.61), anxiety (ρ = 0.54), and poor peer relationships (ρ = -0.49). Overall, 29.4% of parents were aware of bullying of their child, which was strongly associated with stigma (Cohen d = -0.79, with children who were not bullied experiencing lower levels of stigma). Girls reported more stigma than boys (Cohen d = 0.26). Children with hyperhidrosis and hidradenitis suppurativa were most likely to have increased depression and anxiety. Conclusions and Relevance: The findings of this study suggest that physician assessment of disease severity and visibility is insufficient to evaluate the disease impact in the patient/caregiver. Identifying stigmatization, including bullying, and tracking improvement through medical and psychosocial interventions may be a key role for practitioners.


Assuntos
Saúde Mental , Qualidade de Vida , Dermatopatias , Estigma Social , Humanos , Feminino , Masculino , Criança , Adolescente , Estudos Transversais , Dermatopatias/psicologia , Doença Crônica , Canadá , Estereotipagem , Índice de Gravidade de Doença , Depressão/epidemiologia , Depressão/psicologia , Depressão/etiologia , Estados Unidos , Ansiedade/psicologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Medidas de Resultados Relatados pelo Paciente
2.
Pediatr Dermatol ; 41(4): 671-673, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38500261

RESUMO

Down syndrome (DS) is associated with many dermatological conditions, including hidradenitis suppurativa, folliculitis, and alopecia areata. Despite the high incidence of skin conditions in this population, there are no quality of life (QoL) studies in the dermatology literature focused on patients with DS or their caregivers. The frequently used QoL assessment tool, the Dermatology Life Quality Index (DLQI), has yet to be studied in this population. This study addresses these disparities by capturing how various skin conditions affect the QoL of people with DS and their caregivers and assessing the utility of the DLQI.


Assuntos
Cuidadores , Síndrome de Down , Qualidade de Vida , Dermatopatias , Humanos , Cuidadores/psicologia , Masculino , Feminino , Criança , Adolescente , Adulto , Dermatopatias/psicologia , Inquéritos e Questionários , Adulto Jovem , Pré-Escolar , Pessoa de Meia-Idade
3.
Pediatr Dermatol ; 40(6): 1057-1059, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37596908

RESUMO

Numerous studies have investigated the efficacy of intralesional immunotherapy for warts, but there are a lack of studies investigating the efficacy of alternative intralesional immunotherapies following failure of initial intralesional immunotherapy. In this retrospective study, we aimed to investigate the efficacy of intralesional measles, mumps, and rubella vaccine for the treatment of pediatric warts following failure of intralesional therapy with Candida antigen. Following intralesional measles, mumps, and rubella vaccine administration, 8/51 (15.5%) patients had complete resolution of their warts, 6/51 (12%) had near complete resolution, 19/51 (37%) had partial improvement, 12/51 (23.5%) had no change, and 6/51 (12%) had worsening. Although limited by retrospective nature and low sample size, our results demonstrate that intralesional immunotherapy with measles, mumps, and rubella vaccine provides an alternative therapeutic option for the treatment of recalcitrant pediatric warts in patients who fail to respond to intralesional Candida antigen.


Assuntos
Sarampo , Caxumba , Verrugas , Humanos , Criança , Estudos Retrospectivos , Vacina contra Rubéola , Caxumba/tratamento farmacológico , Verrugas/tratamento farmacológico , Imunoterapia/métodos , Antígenos de Fungos/uso terapêutico , Injeções Intralesionais , Candida , Sarampo/tratamento farmacológico , Resultado do Tratamento , Vacina contra Sarampo-Caxumba-Rubéola/uso terapêutico
4.
JAMA Dermatol ; 159(6): 637-642, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37043214

RESUMO

Importance: Tumor necrosis factor α (TNF) inhibitor-induced psoriasiform eruption is well recognized in adults, but few reports document this paradoxical effect in children. Objective: To characterize the clinical features and the clinical time course of TNF inhibitor-induced psoriasiform eruptions in children. Design, Setting, and Participants: A multicenter retrospective case series of children younger than 18 years seen between January 1, 2000, and December 31, 2016, who developed a new-onset psoriasiform eruption while taking a TNF inhibitor for a nondermatologic disorder. Participating sites were members of the Pediatric Dermatology Research Alliance. Data were entered into a Research Electronic Data Capture database at the Mayo Clinic (ie, the coordinating center). Results: Psoriasiform eruptions were identified in 103 TNF inhibitor-treated patients (median age, 13.8 years [IQR, 11.7-16.4 years]; 52 female patients [50%]; 57 White patients [55%]), with 67 patients (65%) treated with infliximab, 35 (34%) with adalimumab, and 1 (1%) with certolizumab pegol. Most patients had no personal history (101 [98%]) or family history of psoriasis (60 patients [58%]). Inflammatory bowel disease was the most common indication for treatment with TNF inhibitor (94 patients [91%]). The primary extracutaneous disease was under control in 95 patients (92%) who developed the eruption. Most patients (n = 85 [83%]) developed psoriasiform eruptions at multiple anatomic sites, with scalp involvement being most common (65 patients [63%]). Skin disease developed at a median of 14.5 months (IQR, 9-24 months) after TNF inhibitor initiation. To treat the psoriasiform eruption, topical steroidal and nonsteroidal medication was prescribed for all patients. Systemic therapy was added for 30 patients (29%): methotrexate for 24 patients (23%), oral corticosteroids for 8 patients (8%), and azathioprine for 1 patient (1%). For 26 patients (25%), suboptimal effectiveness with topical medications alone prompted discontinuation of the initial TNF inhibitor and a change to a second-line TNF inhibitor with cutaneous improvement in 23 patients (88%) by a median of 3 months (IQR, 2-4 months). Eight patients (31%) who started a second-line TNF inhibitor developed a subsequent TNF inhibitor-induced psoriasiform eruption at a median of 6 months (IQR, 4-8 months). Persistent skin disease in 18 patients (17%) prompted discontinuation of all TNF inhibitors; 11 patients changed to a non-TNF inhibitor systemic therapy, and 7 discontinued all systemic therapy. Conclusions and Relevance: In this case series, paradoxical TNF inhibitor-induced psoriasiform eruptions were seen in children treated with TNF inhibitors for any indication, and there appears to be a class effect among the varying TNF inhibitors. The majority of these children were able to continue TNF inhibitor therapy with adequate skin-directed and other adjuvant therapies.


Assuntos
Exantema , Doenças Inflamatórias Intestinais , Psoríase , Adulto , Humanos , Feminino , Criança , Adolescente , Fator de Necrose Tumoral alfa , Estudos Retrospectivos , Adalimumab/efeitos adversos , Infliximab/efeitos adversos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Exantema/tratamento farmacológico , Psoríase/induzido quimicamente , Psoríase/tratamento farmacológico , Psoríase/patologia , Fatores Imunológicos/uso terapêutico
5.
WMJ ; 121(3): E53-E56, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36301660

RESUMO

INTRODUCTION: Acne vulgaris is the most common skin condition in late adolescence and frequently requires systemic treatment with antibiotics or androgen receptor blockers in moderateto- severe cases. CASE PRESENTATION: We report the case of a 17-year-old adolescent female with new onset fever, headache, and pruritic rash 1 month after she started doxycycline and spironolactone for the treatment of acne vulgaris. Later, she developed eosinophilia and transaminitis. Infectious workup was negative. DISCUSSION: This presentation was consistent with a definite case of drug reaction with eosinophilia and systemic symptoms (DRESS). DRESS is a severe, systemic hypersensitivity drug reaction that typically occurs 2 to 8 weeks following exposure to the offending medication. CONCLUSIONS: Although doxycycline and spironolactone are uncommon triggers of DRESS, they are common medications used to treat acne, and clinicians should be aware of this potential complication when counseling patients, especially adolescents.


Assuntos
Acne Vulgar , Síndrome de Hipersensibilidade a Medicamentos , Hiponatremia , Feminino , Humanos , Idoso , Combinação Trimetoprima e Sulfametoxazol/efeitos adversos , Hiponatremia/induzido quimicamente , Hiponatremia/tratamento farmacológico , Síndrome de Hipersensibilidade a Medicamentos/tratamento farmacológico , Sódio/efeitos adversos , Diuréticos/efeitos adversos , Acne Vulgar/induzido quimicamente , Acne Vulgar/tratamento farmacológico
6.
Pediatr Dermatol ; 39(6): 940-942, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35734823

RESUMO

Hyper-IgE syndromes (HIES) are a heterogeneous group of rare primary immunodeficiency diseases classically characterized by the triad of atopic dermatitis, and recurrent cutaneous and pulmonary infections. Autosomal dominant, loss-of-function STAT3 pathogenic variants are the most common genetic cause, which lead to deficiency of Th17 lymphocytes, impaired interferon gamma production, and IL-10 signal transduction, and an unbalanced IL-4 state. Dupilumab, a monoclonal antibody to the IL-4a receptor, inhibits both IL-4 and IL-13, and has been shown to improve atopic dermatitis and other manifestations of HIES including asthma and allergic bronchopulmonary aspergillosis. We present a pediatric patient with HIES who presented predominantly with eosinophilic folliculitis, recurrent cutaneous infections, and other non-eczematous findings and achieved sustained clearance with dupilumab.


Assuntos
Dermatite Atópica , Síndrome de Job , Criança , Humanos , Síndrome de Job/complicações , Síndrome de Job/diagnóstico , Síndrome de Job/tratamento farmacológico , Dermatite Atópica/complicações , Interleucina-4/genética , Mutação
7.
Pediatr Dermatol ; 37(3): 424-434, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32320494

RESUMO

BACKGROUND/OBJECTIVES: The COVID-19 pandemic has raised questions about the approach to management of systemic immunosuppressive therapies for dermatologic indications in children. Change to: Given the absence of data to address concerns related to SARS-CoV-2 infection and systemic immunosuppressive therapies in an evidence-based manner, a Pediatric Dermatology COVID-19 Response Task Force (PDCRTF) was assembled to offer time-sensitive guidance for clinicians. METHODS: A survey was distributed to an expert panel of 37 pediatric dermatologists on the PDCRTF to assess expert opinion and current practice related to three primary domains of systemic therapy: initiation, continuation, and laboratory monitoring. RESULTS: Nearly all respondents (97%) reported that the COVID-19 pandemic had impacted their decision to initiate immunosuppressive medications. The majority of pediatric dermatologists (87%) reported that they were pausing or reducing the frequency of laboratory monitoring for certain immunosuppressive medications. In asymptomatic patients, continuing therapy was the most popular choice across all medications queried. The majority agreed that patients on immunosuppressive medications who have a household exposure to COVID-19 or test positive for new infection should temporarily discontinue systemic and biologic medications, with the exception of systemic steroids, which may require tapering. CONCLUSIONS: The ultimate decision regarding initiation, continuation, and laboratory monitoring of immunosuppressive therapy during the pandemic requires careful deliberation, consideration of the little evidence available, and discussion with families. Consideration of an individual's adherence to COVID-19 preventive measures, risk of exposure, and the potential severity if infected must be weighed against the dermatological disease, medication, and risks to the patient of tapering or discontinuing therapies.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Terapia de Imunossupressão , Pneumonia Viral/epidemiologia , Dermatopatias/terapia , COVID-19 , Criança , Tomada de Decisão Clínica , Consenso , Humanos , Imunossupressores/uso terapêutico , Pandemias , SARS-CoV-2 , Dermatopatias/etiologia
8.
Pediatr Dermatol ; 37(3): 412-418, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32298480

RESUMO

The COVID-19 pandemic has caused significant shifts in patient care including a steep decline in ambulatory visits and a marked increase in the use of telemedicine. Infantile hemangiomas (IH) can require urgent evaluation and risk stratification to determine which infants need treatment and which can be managed with continued observation. For those requiring treatment, prompt initiation decreases morbidity and improves long-term outcomes. The Hemangioma Investigator Group has created consensus recommendations for management of IH via telemedicine. FDA/EMA-approved monitoring guidelines, clinical practice guidelines, and relevant, up-to-date publications regarding initiation and monitoring of beta-blocker therapy were used to inform the recommendations. Clinical decision-making guidelines about when telehealth is an appropriate alternative to in-office visits, including medication initiation, dosage changes, and ongoing evaluation, are included. The importance of communication with caregivers in the context of telemedicine is discussed, and online resources for both hemangioma education and propranolol therapy are provided.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Hemangioma/terapia , Pneumonia Viral/epidemiologia , Neoplasias Cutâneas/terapia , Telemedicina , Antagonistas Adrenérgicos beta/uso terapêutico , COVID-19 , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/transmissão , Hemangioma/patologia , Humanos , Lactente , Recém-Nascido , Pandemias/prevenção & controle , Seleção de Pacientes , Pneumonia Viral/prevenção & controle , Pneumonia Viral/transmissão , SARS-CoV-2 , Neoplasias Cutâneas/patologia
9.
JAMA Dermatol ; 155(5): 548-555, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30942823

RESUMO

Importance: Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date. Objective: To identify genetic mutations associated with linear porokeratosis. Design, Setting, and Participants: Paired whole-exome sequencing of affected skin and blood/saliva samples from 3 participants from 3 academic medical centers with clinical and histologic diagnoses of linear porokeratosis. Interventions or Exposures: Whole-exome sequencing of paired blood/saliva and affected tissue samples isolated from linear porokeratosis lesions. Main Outcomes and Measures: Germline and somatic genomic characteristics of participants with linear porokeratosis. Results: Of the 3 participants, 2 were male. Participant ages ranged from 5 to 20 years old. We found a combination of a novel germline mutation and a novel somatic mutation within affected tissue in all cases. One participant had a germline heterozygous PMVK c.329G>A mutation and a somatic copy-neutral loss of heterozygosity confined to the lesional skin, while a second had a germline heterozygous PMVK c.79G>T mutation and an additional PMVK c.379C>T mutation in the lesional skin. In a third participant, there was a germline splice-site mutation in MVD (c.70 + 5G>A) and a somatic deletion in MVD causing frameshift and premature codon termination within the lesional skin (c.811_815del, p.F271Afs*33 frameshift). Conclusions and Relevance: Our findings suggest that linear porokeratosis is associated with the presence of second-hit postzygotic mutations in the genes that encode enzymes within the mevalonate biosynthesis pathway, and provide further evidence that the mevalonate pathway may be a potential target for therapeutic intervention in porokeratosis.


Assuntos
Variações do Número de Cópias de DNA/genética , Mutação em Linhagem Germinativa/genética , Fosfotransferases (Aceptor do Grupo Fosfato)/genética , Poroceratose/genética , Centros Médicos Acadêmicos , Pré-Escolar , Análise Mutacional de DNA , Humanos , Masculino , Estudos de Amostragem , Sensibilidade e Especificidade , Sequenciamento do Exoma , Adulto Jovem
10.
Pediatr Dermatol ; 35(6): 774-779, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30168172

RESUMO

BACKGROUND/OBJECTIVES: Infantile hemangiomas are common vascular tumors. Identifying sites of predilection may provide insight into pathogenesis. Previous studies have suggested a predilection for the boundary of facial metameres. The objective was to observe patterns of localized hemangiomas on the face and scalp, determine sites of predilection, and place these patterns in a developmental context. METHODS: A retrospective review of photographic archives at 10 Hemangioma Investigator Group pediatric dermatology centers identified localized infantile hemangiomas of the face and scalp. Heat map software was used to identify areas of predilection. Dot maps were used to assess frequency, and densities of infantile hemangiomas were compared between facial units using t-testing. The scalp was divided into quintiles to assess relative frequencies. RESULTS: Four thousand one hundred fifty-three focal face and scalp infantile hemangiomas were mapped, of which 2962 (71%) were mapped to a frontal facial template. On the face, 73.8% (2186/2962) of hemangiomas occurred along the midline axis or perpendicularly across the ocular axis in a cross-shaped area of predilection intersecting at the glabella. Scalp hemangiomas show a predilection for the midline, with 149/295 (50.5%) noted on the top of the scalp at the midline (P < 0.001). Localized hemangiomas do not demonstrate a preferential laterality. CONCLUSION: The distribution of localized infantile hemangiomas of the face and scalp is not random. There is preferential involvement of the midline face and scalp and the ocular axis. The regions corresponding to the boundaries between the embryonic facial segments, including the maxillary and mandibular metameres, are not accentuated in the distribution of infantile hemangiomas.


Assuntos
Neoplasias Faciais/patologia , Hemangioma/patologia , Neoplasias Cutâneas/patologia , Face/patologia , Humanos , Lactente , Estudos Retrospectivos , Couro Cabeludo/patologia , Pele/patologia
11.
J Am Acad Dermatol ; 79(3): 487-494, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29477734

RESUMO

BACKGROUND: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors. OBJECTIVE: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. METHODS: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. RESULTS: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. LIMITATIONS: Relatively small sample size. CONCLUSIONS: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.


Assuntos
Proteínas Adaptadoras de Sinalização CARD/genética , Fármacos Dermatológicos/uso terapêutico , Dermatoses Faciais/genética , Guanilato Ciclase/genética , Proteínas de Membrana/genética , Dermatopatias Papuloescamosas/tratamento farmacológico , Dermatopatias Papuloescamosas/genética , Ustekinumab/uso terapêutico , Idade de Início , Criança , Pré-Escolar , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Fenótipo , Pitiríase Rubra Pilar/genética , Psoríase/genética , Psoríase/terapia , Retratamento
12.
Pediatr Dermatol ; 35(1): 97-103, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29231254

RESUMO

BACKGROUND: Erythema multiforme (EM) is an acute condition characterized by distinctive target lesions of the skin often accompanied by mucosal ulcers. A subset of individuals experience frequent episodes of recurrent EM, which is rare and poorly understood, especially in children. OBJECTIVE: To characterize clinical features, laboratory findings, and treatment responses of pediatric recurrent EM. METHODS: A retrospective chart review was conducted at the Children's Hospital of Wisconsin in Milwaukee, Wisconsin (2000-2015) and the Mayo Clinic in Rochester, Minnesota (1990-2015). Inclusion criterion was a diagnosis before age 18 years with recurrent EM, defined as a symmetrically distributed, fixed eruption, including target lesions, with or without mucous membrane involvement, occurring on at least three occasions. A literature review was conducted to include individuals who met the inclusion criterion. RESULTS: Twenty-six patients were included, of whom 16 (62%) were male. The median age of onset was 9.1 years (range 0-15.7 years). Nine patients (35%) required hospitalization. Herpes simplex virus testing was positive in 9 of 17 (65%) patients. Remission was achieved in 5 of 16 (31%) patients while taking suppressive antivirals. Eight patients received continuous anti-inflammatory treatment, two (25%) of whom experienced remission. CONCLUSION: This study of pediatric recurrent EM found a greater male predominance, more hospitalizations, fewer cases caused by herpes simplex virus, and a lower response to immunosuppression in children than in the general population.


Assuntos
Eritema Multiforme/diagnóstico , Adolescente , Anti-Infecciosos/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Eritema Multiforme/tratamento farmacológico , Eritema Multiforme/epidemiologia , Feminino , Humanos , Imunossupressores/uso terapêutico , Lactente , Masculino , Minnesota , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Wisconsin
13.
J Invest Dermatol ; 138(4): 957-967, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29174369

RESUMO

Vascular anomalies are variably associated with overgrowth, skeletal anomalies, and abnormalities of the brain, leptomeninges, and eye. We assembled a 16-institution network to determine the range of genetic variants associated with a spectrum of vascular anomalies with overgrowth, ranging from mild to severe. Because of the overlap between cancer-associated variants and previously described somatic variants in vascular overgrowth syndromes, we employed tumor genetic profiling via high-depth next-generation sequencing using a panel to assay affected tissue from a diverse cohort of subjects with vascular anomalies with overgrowth. Seventy-five percent (43/57) harbored pathogenic or likely pathogenic variants in 10 genes. We identified two genes (mTOR, PIK3R1) and several variants previously described in the setting of cancer but that, to our knowledge, have not been described in vascular malformations. All were identified at low variant allele frequency consistent with somatic mosaic etiology. By leveraging somatic variant detection technology typically applied to cancer in a cohort inclusive of broad phenotypic severity, we demonstrated that most vascular anomalies with overgrowth harbor postzygotic gain-of-function mutations in oncogenes. Furthermore, continued interrogation of oncogenes in benign developmental disorders could provide insight into fundamental mechanisms regulating cell growth.


Assuntos
DNA de Neoplasias/genética , Genes Neoplásicos/genética , Genômica/métodos , Mutação , Neoplasias/genética , Malformações Vasculares/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Frequência do Gene , Testes Genéticos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Neoplasias/etiologia , Fenótipo , Malformações Vasculares/complicações , Malformações Vasculares/metabolismo , Adulto Jovem
14.
Pediatr Transplant ; 21(2)2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28019062

RESUMO

TS of immunosuppression is a rare, disfiguring dermatologic condition caused by TS-associated polyomavirus in immunosuppressed patients. It is difficult to treat, with no clearly described approach to resolve the condition completely and safely. We report a child with a renal transplant who developed TS and was treated with significant reduction in immunosuppression and transient use of cidofovir cream. The combined approach, primarily with significant long-term reduction in immunosuppression guided by monitoring BK viremia in our patient, led to complete resolution of TS without recurrence or graft rejection by 5 years after transplant. This outcome was superior to all other reports of TS in children after transplantation. Closely monitoring for BK viremia, as a surrogate marker of over-immunosuppression, can guide adjustment in immunosuppressant medication to treat polyomavirus disease without developing the complication of graft rejection in a patient at significant risk.


Assuntos
Falência Renal Crônica/cirurgia , Transplante de Rim , Infecções por Polyomavirus/terapia , Insuficiência Renal/cirurgia , Dermatopatias/terapia , Infecções Tumorais por Vírus/terapia , Vírus BK/imunologia , Biópsia , Criança , Rejeição de Enxerto , Humanos , Hospedeiro Imunocomprometido , Terapia de Imunossupressão , Imunossupressores/efeitos adversos , Falência Renal Crônica/complicações , Masculino , Infecções por Polyomavirus/complicações , Recidiva , Insuficiência Renal/complicações , Pele/patologia , Dermatopatias/complicações , Resultado do Tratamento , Infecções Tumorais por Vírus/complicações
15.
Clin Dermatol ; 33(6): 631-43, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26686015

RESUMO

Lichenoid dermatoses, a group of inflammatory skin conditions with characteristic clinical and histopathologic findings, range from common to rare. Classic lichen planus typically presents as pruritic, polygonal, violaceous flat-topped papules and plaques; many variants in morphology and location also exist. Other lichenoid dermatoses share similar clinical presentations and histopathologic findings. These include lichenoid drug eruption, lichen planus-like keratosis, lichen striatus, lichen nitidus, and keratosis lichenoides chronica. Epidemiologic characteristics vary among each lichenoid disorder. While classic lichen planus is considered a disease of adults, other lichenoid dermatoses may be more common in younger populations. The literature contains an array of reports on the variations in presentation and successful management of lichen planus and lichenoid dermatoses among diverse populations. Familiarity with the characteristics of each lichenoid dermatosis, rare or common within each patient population, is key to accomplishing timely recognition and effective management.


Assuntos
Toxidermias/diagnóstico , Erupções Liquenoides/diagnóstico , Erupções Liquenoides/terapia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Toxidermias/etiologia , Toxidermias/patologia , Humanos , Lactente , Líquen Nítido/diagnóstico , Líquen Nítido/terapia , Líquen Plano/diagnóstico , Líquen Plano/tratamento farmacológico , Líquen Plano/epidemiologia , Erupções Liquenoides/etiologia , Erupções Liquenoides/patologia
16.
Pediatr Dermatol ; 31(3): 281-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24601986

RESUMO

Hobnail hemangioma (HH), initially termed targetoid hemosiderotic hemangioma, is a rare, often solitary lesion classically characterized by a central brown or violaceous papulonodule surrounded at times by an ecchymotic halo. This lesion is typically found on the trunk or limbs of children or young to middle-aged adults. Numerous case reports have found HHs to have a reproducible histologic appearance. Although the exact histogenesis of these lesions is unknown, multiple recent immunohistochemical studies suggest a lymphatic origin of these lesions. We present six cases of children with HHs with classic histology but with variability in their clinical appearance. Because the clinical presence of a targetoid halo is inconsistent and the hobnail phenomenon is not specific, we favor the designation of superficial hemosiderotic lymphovascular malformation instead of HH or targetoid hemosiderotic hemangioma as a more unifying term for this rare clinical entity. By eliminating confounding terminologies (in this case, incorporation of "hemangioma" in the name of this entity), we also hope to encourage a swifter change in practice to move away from erroneous diagnostic considerations.


Assuntos
Equimose/patologia , Hemangioma/patologia , Neoplasias Cutâneas/patologia , Pele/patologia , Adolescente , Biópsia , Criança , Pré-Escolar , Diagnóstico Diferencial , Equimose/metabolismo , Feminino , Hemangioma/metabolismo , Hemossiderina/metabolismo , Humanos , Masculino , Pele/metabolismo , Neoplasias Cutâneas/metabolismo
17.
Pediatr Dermatol ; 31(2): 138-45, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24456130

RESUMO

Circumscribed juvenile pityriasis rubra pilaris (PRP) is an uncommon dermatosis. We describe the unusual clustering of circumscribed juvenile PRP cases in our pediatric dermatology clinic in 2011. A retrospective chart review was done of patients presenting during the summer of 2011 with classic findings of circumscribed juvenile PRP. Clinical data including past medical and family history, presenting symptoms, infectious disease history and evaluation, biopsy results, and management were recorded. Seven patients, ages 5 to 19 years, all had strikingly similar skin findings of pink to hyperpigmented, well-defined, scaly papules and plaques on their elbows, knees, dorsal hands, ankles, and Achilles tendons. Four of the seven also had palmoplantar involvement. Four were sibling pairs and the other three were unrelated. Streptococcus pyogenes infection was suspected as a trigger in four of the patients. The unusual clustering of this uncommon disease, along with the occurrence in two sibling pairs, suggests that a genetic susceptibility unmasked by an infectious agent may play a role in its pathogenesis.


Assuntos
Pitiríase Rubra Pilar/epidemiologia , Adolescente , Biópsia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pitiríase Rubra Pilar/diagnóstico , Estudos Retrospectivos , Wisconsin/epidemiologia , Adulto Jovem
18.
Am J Cardiol ; 112(12): 1948-52, 2013 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-24079520

RESUMO

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiologic, and histopathologic data for cardiovascular anomalies in patients with PHACE to date. Sixty-two (41%) of 150 subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31 (21%) of 150 subjects). Coarctation was the second most common anomaly, identified in 28 (19%) of 150 subjects, and can be missed clinically in patients with PHACE because of the frequent association of arch obstruction with aberrant subclavian origin. Twenty-three (37%) of 62 subjects with cardiovascular anomalies required procedural intervention. A greater percentage of hemangiomas were located on the left side of the head and neck in patients with coarctation (46% vs 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE.


Assuntos
Aorta Torácica/anormalidades , Coartação Aórtica/epidemiologia , Tronco Braquiocefálico/anormalidades , Anormalidades do Olho/epidemiologia , Cardiopatias Congênitas/epidemiologia , Síndromes Neurocutâneas/epidemiologia , Sistema de Registros , Comorbidade , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Veia Subclávia/anormalidades , Grau de Desobstrução Vascular
19.
Dermatol Clin ; 31(2): 289-301, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23557656

RESUMO

Infantile hemangioma is the most common soft tissue tumor of childhood. Despite its frequency, it has only been in the last decade that these lesions have been better characterized and become the subject of significant clinical and translational research. Although most infantile hemangiomas are uncomplicated and do not require intervention, they can be a significant source of parental distress, cosmetic disfigurement, and morbidity. The wide spectrum of disease in the morphology of these lesions and in their behavior has made it difficult to predict the need for treatment and has made it challenging to establish a standardized approach to management.


Assuntos
Hemangioma/patologia , Neoplasias Cutâneas/patologia , Neoplasias de Tecidos Moles/patologia , Gerenciamento Clínico , Tratamento Farmacológico/métodos , Hemangioma/complicações , Hemangioma/terapia , Humanos , Lactente , Terapia a Laser/métodos , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/terapia , Neoplasias de Tecidos Moles/complicações , Neoplasias de Tecidos Moles/terapia
20.
J Am Acad Dermatol ; 69(1): 40-6, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23415685

RESUMO

BACKGROUND: An inverse correlation between serum 25-hydroxyvitamin D concentration and atopic dermatitis (AD) severity has been suggested. OBJECTIVE: To determine if a statistically significant relationship exists between serum 25-hydroxyvitamin D concentration and AD severity. METHODS: A cross-sectional study was conducted of patients with AD who were 1 to 18 years of age. An objective Severity Scoring of Atopic Dermatitis (SCORAD) and a serum 25-hydroxyvitamin D concentration were measured for each subject. Statistical analysis was performed using appropriate univariate tests and multivariable models. RESULTS: Ninety-four of 97 enrolled subjects were included in the analysis. Vitamin D deficiency (25-hydroxyvitamin D <20 ng/mL) was present in 37 subjects (39%), insufficiency (25-hydroxyvitamin D 21-29 ng/mL) in 33 (35%), and sufficiency (25-hydroxyvitamin D ≥30 ng/mL) in 24 (26%). The correlation between 25-hydroxyvitamin D concentration and SCORAD was not significant (r = -0.001; P = .99). A multivariate model showed that a lower serum 25-hydroxyvitamin D concentration was significantly associated with age 3 years or older (P < .0001), black race (P < .0001), and winter season (P = .0084). LIMITATIONS: Limitations of this study include the inability to control for natural sunlight exposure, vitamin D intake, and AD treatment; in addition, only a single time point was captured. CONCLUSIONS: Serum 25-hydroxyvitamin D concentration is not significantly correlated with AD severity in our pediatric population.


Assuntos
Dermatite Atópica/sangue , Vitamina D/análogos & derivados , Adolescente , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Dermatite Atópica/epidemiologia , Feminino , Humanos , Lactente , Masculino , Prevalência , Índice de Gravidade de Doença , Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia
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