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1.
2.
Pediatr Clin North Am ; 66(2): 437-459, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30819347

RESUMO

Infantile hemangiomas (IH) are a common benign tumor of infancy, most being uncomplicated and not requiring therapy. Some IH may require treatment; the pediatric provider must be familiar with morphology, distribution, natural history, and associations of IH. Several treatment options are available for IH: current standard of care, oral propranolol. Other therapies include wound care; topical beta-blocker therapy for small, superficial, and uncomplicated IH; treatment of IH residua. In addition to functional compromise and other complications, potential for permanent deformity and eventual psychosocial stigmatization are important when considering the need for treatment of IH in a neonate or infant.


Assuntos
Hemangioma/diagnóstico , Antagonistas Adrenérgicos beta/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Hemangioma/complicações , Hemangioma/terapia , Humanos , Lactente , Recém-Nascido , Terapia a Laser/métodos , Masculino , Fatores de Risco
4.
Pediatrics ; 143(1)2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30584062

RESUMO

Infantile hemangiomas (IHs) occur in as many as 5% of infants, making them the most common benign tumor of infancy. Most IHs are small, innocuous, self-resolving, and require no treatment. However, because of their size or location, a significant minority of IHs are potentially problematic. These include IHs that may cause permanent scarring and disfigurement (eg, facial IHs), hepatic or airway IHs, and IHs with the potential for functional impairment (eg, periorbital IHs), ulceration (that may cause pain or scarring), and associated underlying abnormalities (eg, intracranial and aortic arch vascular abnormalities accompanying a large facial IH). This clinical practice guideline for the management of IHs emphasizes several key concepts. It defines those IHs that are potentially higher risk and should prompt concern, and emphasizes increased vigilance, consideration of active treatment and, when appropriate, specialty consultation. It discusses the specific growth characteristics of IHs, that is, that the most rapid and significant growth occurs between 1 and 3 months of age and that growth is completed by 5 months of age in most cases. Because many IHs leave behind permanent skin changes, there is a window of opportunity to treat higher-risk IHs and optimize outcomes. Early intervention and/or referral (ideally by 1 month of age) is recommended for infants who have potentially problematic IHs. When systemic treatment is indicated, propranolol is the drug of choice at a dose of 2 to 3 mg/kg per day. Treatment typically is continued for at least 6 months and often is maintained until 12 months of age (occasionally longer). Topical timolol may be used to treat select small, thin, superficial IHs. Surgery and/or laser treatment are most useful for the treatment of residual skin changes after involution and, less commonly, may be considered earlier to treat some IHs.


Assuntos
Gerenciamento Clínico , Hemangioma/terapia , Guias de Prática Clínica como Assunto , Neoplasias Cutâneas/terapia , Terapia Combinada/normas , Humanos , Lactente
5.
J Pediatr ; 2018 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-30270159

RESUMO

OBJECTIVE: To characterize the risk for ocular complications in patients with PHACE syndrome. STUDY DESIGN: This study included consecutive patients with PHACE syndrome who were seen at Lurie Children's Hospital of Chicago from January 2000 through May 2017. A complete ophthalmic examination was performed in all patients, with extra attention for findings typically associated with PHACE syndrome. RESULTS: Thirty patients (67% female, median age of onset 0.08 months) were included: 38 (93%) demonstrated a segmental infantile hemangioma distribution. Twenty-one (70%) cases had a periocular involvement, and 47% had an infantile hemangioma with a deep component. Among 21 patients with periocular distribution, 9 had ocular complications secondary to the periocular location (mainly ptosis, nasolacrimal duct obstruction, and refractive errors), and one had an ocular complication specifically associated with PHACE syndrome (Horner syndrome). None of the patients without periocular distribution had an ocular complication. CONCLUSIONS: In patients with PHACE syndrome who have a periocular infantile hemangioma, a complete eye examination is recommended. Although specific ocular anomalies related to PHACE syndrome are rare, serious ocular complications secondary to the location of the hemangioma may be present. Eye examination in patients with PHACE syndrome without a periocular infantile hemangioma distribution is likely of low yield.

6.
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
8.
Pediatr Dermatol ; 35(4): 458-462, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29766557

RESUMO

BACKGROUND/OBJECTIVES: Infantile hemangiomas are the most common benign tumors of childhood. Although some children with periocular infantile hemangiomas do not require treatment, these lesions may result in amblyopia and visual impairment if not properly treated. We have attempted to characterize clinical features of periocular infantile hemangiomas that predict negative ocular outcomes and thus require prompt referral to an ophthalmologist and initiation of therapy. METHODS: This study included children with periocular infantile hemangiomas consecutively seen at Ann & Robert H. Lurie Children's Hospital of Chicago from January 1994 through December 2014. Only patients evaluated by both a dermatologist and an ophthalmologist were included. Medical records of patients who met inclusion criteria were reviewed. Ocular findings were reviewed for the presence of ptosis, refractive errors, strabismus, proptosis, and amblyopia. RESULTS: Ninety-six patients (74% female, median age of onset 0.48 months) were included. Periocular infantile hemangiomas larger than 1 cm in diameter, with a deep component, and with involvement of the upper eyelid were significantly associated with astigmatism (P = .002, P = .02, and P = .003, respectively) and amblyopia (P = .002, P = .02, and P = .04, respectively). Using logistic regression, diameter greater than 1 cm (odds ratio = 14.13, P = .01) and amblyopia (odds ratio = 21.00, P = .04) were the strongest predictors of astigmatism. Lower lid and medial and lateral canthal involvement were not predictive of ocular complications. CONCLUSION: Predictive factors for ocular complications in patients with periocular infantile hemangiomas are diameter greater than 1 cm, a deep component, and upper eyelid involvement, with size being the most consistent predictor. These patients should be promptly referred to an ophthalmologist, and treatment should be strongly considered.


Assuntos
Neoplasias Oculares/complicações , Hemangioma/complicações , Neoplasias Oculares/patologia , Feminino , Hemangioma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco
9.
Pediatr Dermatol ; 35(4): e233-e234, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29683225

RESUMO

Screening electrocardiography (ECG) before initiation of propranolol for treatment of infantile hemangiomas (IH) is controversial. A retrospective chart review was conducted to assess the utility of pretreatment ECG in infants with IH starting propranolol. Although nearly half of the ECGs were abnormal, no contraindications to treatment were identified from screening ECG, and no association was found between any of the reported side effects and abnormal ECG. These results support previously published data, and in a larger cohort, providing further confirmation that pretreatment ECG is not necessary in most infants with IH.


Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Eletrocardiografia/métodos , Hemangioma/diagnóstico , Programas de Rastreamento/métodos , Propranolol/uso terapêutico , Antagonistas Adrenérgicos beta/efeitos adversos , Feminino , Hemangioma/tratamento farmacológico , Humanos , Lactente , Masculino , Propranolol/efeitos adversos , Estudos Retrospectivos
10.
Pediatr Dermatol ; 35(3): 329-335, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29488239

RESUMO

BACKGROUND/OBJECTIVES: Cutaneous juvenile xanthogranuloma is an uncommon, usually benign disease affecting infants and young children. Ocular and other systemic involvement have been reported, but their incidence is unclear, and the utility of routine screening is not well established. Our aim was to characterize the risk of ocular and systemic complications in children with cutaneous juvenile xanthogranuloma. METHODS: In this retrospective study, we reviewed the medical charts of children with cutaneous juvenile xanthogranuloma seen at Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois, between January 2000 and December 2015. A comprehensive literature review was also performed. RESULTS: Of 338 children with cutaneous juvenile xanthogranuloma, 76 (median age 6 months, 51% female) met inclusion criteria. The most frequently involved site was the head and neck region (40%). In 39 patients (51%), there was a single lesion. Multiple lesions (>5) were evident in 20 patients (26%). Most cutaneous juvenile xanthogranulomas were micronodular (77%). None of the patients had ocular involvement. One patient had multiple asymptomatic hepatic nodules on imaging that regressed spontaneously within several months. Literature review of pediatric cutaneous juvenile xanthogranuloma series, including our cohort, revealed that the incidence of ocular manifestations is 0.24% (7/2949) and of systemic manifestations is 0.75% (22/2949). CONCLUSION: Cutaneous juvenile xanthogranulomas are generally limited to the skin. Because eye involvement is rare, a routine eye examination is of low yield and probably not warranted in children with no ocular or visual symptoms. New recommendations for systemic screening could not be drawn from this study.


Assuntos
Xantogranuloma Juvenil/complicações , Adolescente , Criança , Pré-Escolar , Olho/patologia , Feminino , Humanos , Illinois , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Risco , Pele/patologia
13.
Pediatr Dermatol ; 34(6): 638-646, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29044644

RESUMO

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. We describe two patients with HPS type 1 and review the updated gene-based classification, clinical features, and recommendations for evaluation and follow-up.


Assuntos
Síndrome de Hermanski-Pudlak/diagnóstico , Proteínas de Membrana/genética , Plaquetas/patologia , Diagnóstico Diferencial , Síndrome de Hermanski-Pudlak/genética , Síndrome de Hermanski-Pudlak/terapia , Humanos , Lactente , Masculino , Mutação
14.
Blood ; 130(12): 1456-1467, 2017 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-28679735

RESUMO

X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Quinase I-kappa B/genética , Mutação/genética , Pré-Escolar , Estudos de Coortes , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Heterozigoto , Humanos , Lactente , Recém-Nascido , Inflamação/patologia , Doenças Inflamatórias Intestinais/etiologia , NF-kappa B/metabolismo , Fenótipo , Transdução de Sinais/genética , Análise de Sobrevida , Doadores de Tecidos , Condicionamento Pré-Transplante , Resultado do Tratamento
15.
Pediatr Dermatol ; 34(2): 180-186, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28111780

RESUMO

Lipoblastoma is a rare neoplasm of embryonal adipose tissue most often encountered on the trunk and extremities of children. It commonly presents as a painless subcutaneous soft tissue mass, but there are other unique clinical presentations that are important to recognize. The differential is broad and includes sarcoma, vascular tumor, myofibroma, and other fibromatoses. We present three varied, distinct cases of pediatric lipoblastoma and review the literature on this condition.


Assuntos
Lipoblastoma/patologia , Neoplasias Cutâneas/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Lipoblastoma/terapia , Masculino , Neoplasias Cutâneas/terapia
16.
Pediatr Dermatol ; 33(5): 501-6, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27339688

RESUMO

OBJECTIVES: Erythema annulare centrifugum (EAC) is an uncommon eruption that may be a hypersensitivity reaction. Treatment of EAC is best accomplished by eliminating the underlying cause. Although many triggers have been reported, the inciting factor is unknown in most patients. We hypothesized that occult yeast overgrowth may trigger EAC in patients with EAC of unknown etiology. METHODS: Five children with EAC were treated empirically with oral fluconazole. These cases were retrospectively reviewed. RESULTS: Improvement was noted in all patients; three cleared entirely. Two patients experienced recurrences after successful treatment, which were treated with a second course of fluconazole. The treatment was well tolerated, without adverse effects. CONCLUSION: Oral fluconazole was an effective treatment in five children with EAC.


Assuntos
Antifúngicos/administração & dosagem , Eritema/diagnóstico , Eritema/tratamento farmacológico , Fluconazol/administração & dosagem , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/tratamento farmacológico , Administração Oral , Adolescente , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Amostragem , Índice de Gravidade de Doença , Resultado do Tratamento
18.
Pediatr Dermatol ; 33(2): 178-83, 2016 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26863906

RESUMO

BACKGROUND: Twins have a higher-than-expected risk of infantile hemangiomas (IHs), but the exact reasons for this association are not clear. Comparing concordant and discordant twin pairs might help elucidate these factors and yield more information about IH risk factors. METHODS: A prospective cohort study of twin pairs from 12 pediatric dermatology centers in the United States, Canada, Argentina, and Spain was conducted. Information regarding maternal pregnancy history, family history of vascular birthmarks, zygosity (if known), and pregnancy-related information was collected. Information regarding twins (N = 202 sets) included birthweight, gestational age (GA), presence or absence of IHs, numbers and subtypes of IHs, presence of other birthmarks, and other medical morbidities. RESULTS: Two hundred two sets of twins were enrolled. Concordance for IH was present in 37% of twin pairs. Concordance for IH was inversely related to gestational age (GA), present in 42% of GA of 32 weeks or less, 36% of GA of 33 to 36 weeks, and 32% of GA of 37 weeks or more. Twins of GA of 34 weeks or less were more than two and a half times as likely to be concordant as those of GA of 35 weeks or more (odds ratio (OR) = 2.66, 95% confidence interval (CI) = 1.42-4.99; p < 0.01). In discordant twins, lower birthweight conferred a high risk of IH; of the 64 sets of twins with 10% or greater difference in weight, the smaller twin had IH in 62.5% (n = 40) of cases, versus 37.5% (n = 24) of cases in which the higher-birthweight twin was affected. Zygosity was reported in 188 twin sets (93%). Of these, 78% were dizygotic and 22% monozygotic. There was no statistically significant difference in rates of concordance between monozygotic twins (43%, 18/42) and dizygotic twins (36%, 52/146) (p = 0.50). In multivariate analysis comparing monozygotic and dizygotic twins, adjusting for effects of birthweight and sex, the likelihood of concordance for monozygotic was not appreciably higher than that for dizygotic twins (OR = 1.14, 95% CI = 0.52-2.49). Female sex also influenced concordance, confirming the effects of female sex on IH risk. The female-to-male ratio was 1.7:1 in the entire cohort and 1.9:1 in those with IH. Of the 61 concordant twin sets with known sex of both twins, 41% were female/female, 43% were female/male, and 16% were male/male. CONCLUSIONS: These findings suggest that the origin of IHs is multifactorial and that predisposing factors such as birthweight, sex, and GA may interact with one another such that a threshold is reached for clinical expression.


Assuntos
Doenças em Gêmeos , Hemangioma/genética , Peso ao Nascer , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos , Fatores Sexuais
20.
Pediatrics ; 136(4): e1060-104, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26416931

RESUMO

Infantile hemangiomas (IHs) are the most common tumors of childhood. Unlike other tumors, they have the unique ability to involute after proliferation, often leading primary care providers to assume they will resolve without intervention or consequence. Unfortunately, a subset of IHs rapidly develop complications, resulting in pain, functional impairment, or permanent disfigurement. As a result, the primary clinician has the task of determining which lesions require early consultation with a specialist. Although several recent reviews have been published, this clinical report is the first based on input from individuals representing the many specialties involved in the treatment of IH. Its purpose is to update the pediatric community regarding recent discoveries in IH pathogenesis, treatment, and clinical associations and to provide a basis for clinical decision-making in the management of IH.


Assuntos
Hemangioma , Neoplasias Cutâneas , Corticosteroides/uso terapêutico , Antagonistas Adrenérgicos beta/uso terapêutico , Pré-Escolar , Tomada de Decisão Clínica , Terapia Combinada , Procedimentos Cirúrgicos Dermatológicos , Progressão da Doença , Feminino , Hemangioma/complicações , Hemangioma/diagnóstico , Hemangioma/terapia , Humanos , Lactente , Terapia a Laser , Masculino , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia
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