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BACKGROUND: Treatment management for congenital melanocytic nevi (CMN) on the face (FCMN) is highly variable and requires a thorough assessment of multiple factors. To date, a systematic review of FCMN treatment is lacking. The purpose of the present study was to elucidate the frequency, variety, and outcomes of treatment modalities for FCMN with different levels of complexity. METHODS: A comprehensive review of Pubmed, Embase, and Google Scholar databases from 1950 to 2022 was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Articles reporting on FCMN treatment approaches, outcomes, and associated complications were screened and data were extracted according to inclusion criteria. Data were tabulated for thematic analysis of FCMN treatment types, anatomic locations, outcomes, and complications. RESULTS: Of the 561 studies retrieved, 34 met inclusion criteria including 19 surgical treatments, 14 nonsurgical treatments, and one combined surgical and nonsurgical treatment study, totaling 356 patients. The majority of treated FCMN were small-to-medium-sized (56%). Facial CMN treated conservatively were mostly located on the cheek (27%) and/or perinasal region (21%), whereas FCMN treated with surgery were primarily located in the periorbital region (44%) and/or the cheek (17%). Across all treatment cohorts, 22% of patients experienced at least one complication, with 12% of complications experienced by patients treated by surgery. CONCLUSIONS: There is a greater need for standardized FCMN nomenclature that encompasses nevi pattern, dimensions, anatomical coverage, and quantitative measurements of treatment outcome. Future studies should focus on identifying anatomic locations of FCMN that are more prone to complications and determine which treatment approach optimizes outcomes.
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Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Nevo Pigmentado/cirurgia , Resultado do Tratamento , Bochecha , Bases de Dados Factuais , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/complicaçõesRESUMO
Introgression and hybridization are major impediments to genomic-based species delimitation because many implementations of the multispecies coalescent framework assume no gene flow among species. The sunfish genus Lepomis, one of the world's most popular groups of freshwater sport fish, has a complicated taxonomic history. The results of ddRAD phylogenomic analyses do not provide support for the current taxonomy that recognizes two species, Lepomis megalotis and Lepomis peltastes, in the L. megalotis complex. Instead, evidence from phylogenomics and phenotype warrants recognizing six relatively ancient evolutionary lineages in the complex. The introgressed and hybridizing populations in the L. megalotis complex are localized and appear to be the result of secondary contact or rare hybridization events between nonsister species. Segregating admixed populations from our multispecies coalescent analyses identifies six species with moderate to high genealogical divergence, whereas including admixed populations drives all but one lineage below the species threshold of genealogical divergence. Segregation of admixed individuals also helps reveal phenotypic distinctiveness among the six species in morphological traits used by ichthyologists to discover and delimit species over the last two centuries. Our protocols allow for the identification and accommodation of hybridization and introgression in species delimitation. Genomic-based species delimitation validated with multiple lines of evidence provides a path towards the discovery of new biodiversity and resolving long-standing taxonomic problems.[ddRAD; genealogical divergence index; hybridization; integrative species delimitation; phylogeny; secondary contact; systematics; taxonomy.].
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Perciformes , Animais , Peixes/genética , Hibridização Genética , Perciformes/genética , Filogenia , Especificidade da EspécieRESUMO
Surgical attempts to remove large/giant congenital melanocytic naevi (LGCMN) are supported mainly by the theoretical improvement in patients' self-image; however such surgery can result in unaesthetic scarring. We hypothesize that difference in appearance itself has an impact, and hence surgery cannot negate this impact. The aim of this cross-sectional study was to explore how LGCMN and scarring are perceived by non-affected people. We surveyed the visual impact on 1,015 health and non-health professionals working in a university hospital. Participants were assigned to 1 of 3 surveys, which, based on photographs of children: (i) assessed the visual impact of LGCMN; (ii) the visual impact of scarring; (iii) compared the impact of LGCMN and scarring. Feelings and perceptions evoked by images of children, either with LGCMN or with scarring, were remarkably similar. However, when the images of the same child (with LGCMN or scarring) were shown together, respondents showed significantly increased preference for scarring.
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Nevo Pigmentado , Neoplasias Cutâneas , Criança , Cicatriz/etiologia , Estudos Transversais , Família , Humanos , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/cirurgiaRESUMO
INTRODUCTION: Whereas free tissue transfer has evolved to minimize morbidity in adults, less is known about outcomes after free flaps in children. This study sought to assess short- and long-term outcomes after microvascular reconstruction in the pediatric population. METHODS: Short- and long-term outcomes of free tissue transfer were assessed using chart-review and quality-of-life surveys. The Pediatric Outcomes Data Collection Instrument was used to evaluate overall health, pain, and ability to participate in normal daily and more vigorous activities. Patient or parent responses were compared against normative data. RESULTS: Forty-two patients underwent 48 flap reconstructions at a mean age of 8 years. Median follow-up was 14.9 years. Indications included congenital nevi (n = 19, 42%), lymphatic/vascular malformations (n = 8, 19%), and trauma/burns (n = 6, 14%). There were 21 fasciocutaneous (44%), 19 muscle/myocutaneous (40%), 6 fascial/peritoneal (13%), and 2 osteocutaneous flaps (4%). Major flap complications were observed in 4 patients (9%), whereas major donor-site complications occurred in 2% (1 patient). Valid contact information was available for 25 patients; 16 of these completed surveys (64%). Pediatric Outcomes Data Collection Instrument scores for mobility (median, 52), sports/physical functioning (median, 56), happiness (median, 50), and pain/comfort (median, 56) were not significantly different from normative population score of 50. Similarly, median global functioning score was 99 (maximum, 100) and did not differ between flap types. DISCUSSION: Free tissue transfer in the pediatric population is reliable and well-tolerated over time. Surgeons should not hesitate to use free flaps when clinically indicated for pediatric patients.
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Retalhos de Tecido Biológico/transplante , Avaliação de Resultados em Cuidados de Saúde , Atividades Cotidianas , Transplante Ósseo , Criança , Feminino , Sobrevivência de Enxerto , Humanos , Masculino , Qualidade de Vida , Transplante de PeleRESUMO
BACKGROUND: Atopic dermatitis (AD) affects 15% to 25% of children and 4% to 7% of adults. Paradigm-shifting discoveries about AD have been based on adult biomarkers, reflecting decades of disease activity, although 85% of cases begin by 5 years. Blood phenotyping shows only TH2 skewing in patients with early-onset pediatric AD, but alterations in early pediatric skin lesions are unknown, limiting advancement of targeted therapies. OBJECTIVE: We sought to characterize the early pediatric AD skin phenotype and its differences from pediatric control subjects and adults with AD. METHODS: Using immunohistochemistry and quantitative real-time PCR, we assessed biopsy specimens from 19 children with AD younger than 5 years within 6 months of disease onset in comparison with adults with AD or psoriasis and pediatric and adult control subjects. RESULTS: In lesional skin children showed comparable or greater epidermal hyperplasia (thickness and keratin 16) and cellular infiltration (CD3+, CD11c+, and FcεRI+) than adults with AD. Similar to adults, strong activation of the TH2 (IL-13, IL-31, and CCL17) and TH22 (IL-22 and S100As) axes and some TH1 skewing (IFN-γ and CXCL10) were present. Children showed significantly higher induction of TH17-related cytokines and antimicrobials (IL-17A, IL-19, CCL20, LL37, and peptidase inhibitor 3/elafin), TH9/IL-9, IL-33, and innate markers (IL-8) than adults (P < .02). Despite the characteristic downregulation in adult patients with AD, filaggrin expression was similar in children with AD and healthy children. Nonlesional skin in pediatric patients with AD showed higher levels of inflammation (particularly IL-17A and the related molecules IL-19 and LL37) and epidermal proliferation (keratin 16 and S100As) markers (P < .001). CONCLUSION: The skin phenotype of new-onset pediatric AD is substantially different from that of adult AD. Although excess TH2 activation characterizes both, TH9 and TH17 are highly activated at disease initiation. Increases in IL-19 levels might link TH2 and TH17 activation.
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Dermatite Atópica/patologia , Eczema/patologia , Hispânico ou Latino , Psoríase/patologia , Pele/patologia , Células Th17/imunologia , Células Th2/imunologia , Adulto , Fatores Etários , Idoso , Pré-Escolar , Citocinas/metabolismo , Dermatite Atópica/imunologia , Eczema/imunologia , Feminino , Proteínas Filagrinas , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Psoríase/imunologia , Estados UnidosRESUMO
Large/giant congenital nevi (L/GCMN) are benign neoplasms of the melanocytic neural crest lineage covering extensive areas of skin presenting risk for melanoma. Surgical resection often leads to scarring and trauma. Histone deacetylase inhibitors (iHDACs) as topical therapeutic agents may prove beneficial as an alternative/adjunct to surgery in this disease. Here we describe the effect of in vitro treatment of iHDACs drugs on primary nevocytes isolated from L/GCMN patients. Micropthalmia transcription factor (MITF) expression in L/GCMN patients' lesions was detected by immunohistochemistry, in cultured nevocytes by immunofluorescence, immunoblot and quantitative polymerase chain reaction. Cellular senescence was detected by SA-ß galactosidase activity. Markers for melanocytic differentiation were evaluated by immunoblot analysis and extracted melanin content was estimated spectrophotometrically. Cell death was measured by lactate dehydrogenase (LDH) assay and necrosis confirmed by polymerase (PARP) cleavage and acridine orange staining of the nuclei. MITF was expressed ubiquitously in nevocytes and melanocytes in patients' lesions. In culture, iHDAC treatment suppressed MITF protein and mRNA expression resulting in a senescent-like phenotype with positive ß-galactosidase staining, progressing to necrotic cell death as evidenced by increased LDH activity, appearance of cleaved PARP and necrotic nuclei. This is the first report showing evidence of iHDACs-induced MITF suppression in congenital nevocytes in vitro leading to a morphologic change with positive ß-galactosidase staining, followed by necrotic cell death in nevocytes, indicating that iHDAC drugs could be valuable therapeutic agents for treatment of L/GCMN lesions.
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Inibidores de Histona Desacetilases/uso terapêutico , Nevo Pigmentado/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Fatores de Transcrição/efeitos dos fármacos , Vorinostat/uso terapêutico , Morte Celular , Diferenciação Celular , Pré-Escolar , Inibidores de Histona Desacetilases/farmacologia , Humanos , Lactente , Vorinostat/farmacologiaRESUMO
Melanotic schwannoma is a rare nerve sheath tumor composed of melanin-producing Schwann cells with the potential for metastasis. These tumors can be associated with familial tumor syndromes and can cause significant symptoms related to nerve compression and mass effect. Due to the rarity of these lesions, they can be initially misidentified as melanocytomas, pigmented dermatofibrosarcoma protuberans, neurofibromas or malignant melanomas. Surgical excision is the mainstay of treatment with limited benefit from adjuvant systemic chemotherapy or radiation. Modern treatments with immune checkpoint blockade have demonstrated significant improvements in progression-free and overall survival for a variety of cancer histologies; however, anti-PD1 therapy has yet to be evaluated in patients with melanotic schwannoma. This report demonstrates a significant improvement in symptomatology and tumor stability with neoadjuvant anti-PD1 therapy for a retrocaval melanotic schwannoma initially masquerading as malignant melanoma. This report demonstrates the potential benefit of a novel therapeutic option for patients with melanotic schwannoma.
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Terapia Neoadjuvante/métodos , Neurilemoma/tratamento farmacológico , Adulto , Humanos , MasculinoRESUMO
Factors regulating transcription of pluripotency genes in congenital nevo-melanocytes are not known. Nevo-melanocytes belong somewhere in-between the ends of a spectrum where the normal epidermal melanocyte represents one end and a melanoma cell with multiple genetic abnormalities represents the other. Cells from large/giant congenital nevi (L/GCMN), unlike normal melanocytes, grow colonies on soft agar and express pluripotency markers, similar to melanoma cells. In this study normal melanocytes, SKMEL28 melanoma cells and nevo-melanocytes isolated from three L/GCMN patients were exposed to niche factors bFGF and IGF1 in vitro at physiological doses, and expression of a panel of pluripotency markers was determined by RT-PCR. While normal melanocytes did not show any significant transcriptional change in the genes studied, bFGF induced transcription of Sox2 and Bmi1 in melanoma cells. Patients' cells showed differential expression, with Sox10 being common to C76N and PD1N, while only Sox2 and Bmi1 were upregulated in C139N. IGF1 on the other hand induced unique sets of genes in each individual sample. We conclude that expression of pluripotency genes in L/GCMN cells is affected by niche factors bFGF and IGF1; however, each individual growth factor induced a unique set of genes in a patient's cells.
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BACKGROUND: Omipalisib has been found to affect the viability of cancer cells. However, its effect on clonogenicity - a feature of cancer stem cells, is not clear. Cells isolated from neurocutaneous melanocytosis (NCM) patients' lesions grow clonogenically. The aim of this study was to investigate the effect of omipalisib treatment on clonogenic growth of NCM cells in vitro. MATERIALS AND METHODS: Clonogenic growth efficiency was evaluated by colony formation assays with or without specific growth factors. Activation of MEK and Akt was determined by immunoblots. Colony formation and cell viability were assessed upon pharmacological inhibition of MEK, Akt and mToR. RESULTS: Clonogenicity appeared to depend on bFGF and IGF1signaling through ERK and Akt. Omipalisib treatment prevented colony formation and induced autophagic cell death. CONCLUSION: Signaling through Akt is important for survival of clonogenic cells in NCM, and omipalisib treatment as a monotherapy or in combination with MEK162 could be an effective therapeutic strategy to inhibit clonogenic growth.
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Transformação Celular Neoplásica/efeitos dos fármacos , Melanoma/prevenção & controle , Melanose/complicações , Síndromes Neurocutâneas/complicações , Inibidores de Fosfoinositídeo-3 Quinase , Quinolinas/farmacologia , Neoplasias Cutâneas/prevenção & controle , Sulfonamidas/farmacologia , Serina-Treonina Quinases TOR/antagonistas & inibidores , Apoptose/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Transformação Celular Neoplásica/metabolismo , Transformação Celular Neoplásica/patologia , Feminino , Humanos , Lactente , Melanoma/etiologia , Melanoma/metabolismo , Melanoma/patologia , Proteínas Proto-Oncogênicas c-akt/antagonistas & inibidores , Piridazinas , Transdução de Sinais , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Células Tumorais Cultivadas , Ensaio Tumoral de Célula-TroncoRESUMO
IMPORTANCE: The long-term implications of hepatotoxic effects in patients with psoriasis remains uncharacterized, and a method is needed for the noninvasive monitoring of the development and progression of hepatic fibrosis in patients with psoriasis receiving long-term methotrexate therapy. OBJECTIVE: To evaluate if NASH FibroSure, a noninvasive test for nonalcoholic steatohepatitis (NASH) and hepatic fibrosis, can be used for patients with psoriasis to aid in determining eligibility for methotrexate sodium (MTX) therapy, monitor for the development of MTX-induced hepatotoxic effects, and monitor for worsening of hepatic fibrosis scores during MTX therapy. DESIGN, SETTING, AND PARTICIPANTS: A retrospective descriptive analysis was conducted among a cohort of patients with psoriasis treated with MTX who underwent NASH FibroSure testing between January 1, 2007, and December 31, 2013, at a dermatology referral center at a single institution. Data analysis was performed from January 1 to December 31, 2014. MAIN OUTCOMES AND MEASURES: NASH FibroSure risk scores suggesting the development and progression of hepatic fibrosis in patients with psoriasis receiving long-term MTX therapy. RESULTS: Included in the institutional experience portion of the study were 129 patients with psoriasis undergoing treatment with MTX, while 107 patients (57 women and 50 men; mean [SD] age, 83.3 [13.5] years) underwent NASH FibroSure testing during MTX therapy and were eligible for correlation analysis. Of the 129 patients with psoriasis undergoing treatment with MTX, 69 (53.5%) underwent NASH FibroSure testing prior to starting MTX; 19 of those patients (27.5%) had elevated fibrosis scores, and 54 (78.3%) had elevated steatosis scores. Among the 107 patients who underwent NASH FibroSure testing during MTX therapy, the cumulative MTX dose corresponded to a statistically significant association of a higher NASH FibroSure hepatic fibrosis score in women (Spearman ρ = 0.21; P = .02) but not in men (Spearman ρ = 0.17; P = .11). All patients in the cohort except 1 were managed without a liver biopsy. CONCLUSIONS AND RELEVANCE: The patients with psoriasis in this study had a high prevalence of elevated hepatic steatosis scores. The NASH FibroSure test can be used to monitor changes in fibrosis score in patients with psoriasis receiving MTX. In a single-institution cohort, these results suggest that NASH FibroSure may be used, especially among female patients, to help monitor for risk of worsening fibrosis during MTX therapy.
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BACKGROUND: Neurocutaneous melanocytosis (NCM) is characterized by clonal nevomelanocytic proliferations in the CNS and skin. Given the scarcity of effective therapeutic targets, testing new drugs requires a reliable and reproducible in vitro cellular model of the disease. METHODS: We generated nevomelanocytic spheroids in vitro from lesions of the spinal cord, brain, and skin from 4 NCM patients. Nevomelanocytic cells were grown as monolayers or spheroids and their growth characteristics were evaluated. Cultured cell identity was confirmed by demonstration of the same NRAS mutation found in the original lesions and by immunophenotyping. Nevomelanocytic spheroids were treated with inhibitors of specific mediators of the NRAS signaling pathway (vemurafenib, MEK162, GDC0941, and GSK2126458). Drug sensitivity and cell viability were assessed. RESULTS: Cultured cells were growth-factor dependent, grew as spheroids on Geltrex matrix, and maintained their clonogenicity in vitro over passages. Skin-derived cells formed more colonies than CNS-derived cells. Inhibitors of specific mediators of the NRAS signaling pathway reduced viability of NRAS mutated cells. The highest effect was obtained with GSK2126458, showing a viability reduction below 50%. CONCLUSIONS: NRAS mutated cells derived from clinical NCM samples are capable of continuous growth as spheroid colonies in vitro and retain their genetic identity. Drugs targeting the NRAS signaling pathway reduce in vitro viability of NCM cells. NCM lesional spheroids represent a new and reliable experimental model of NCM for use in drug testing and mechanistic studies.
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Apoptose/efeitos dos fármacos , Benzimidazóis/farmacologia , Neoplasias Encefálicas/patologia , GTP Fosfo-Hidrolases/antagonistas & inibidores , Melanoma/patologia , Proteínas de Membrana/antagonistas & inibidores , Neoplasias Cutâneas/patologia , Esferoides Celulares/patologia , Western Blotting , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/genética , Proliferação de Células/efeitos dos fármacos , Criança , Pré-Escolar , Imunofluorescência , GTP Fosfo-Hidrolases/genética , GTP Fosfo-Hidrolases/metabolismo , Humanos , Técnicas Imunoenzimáticas , Lactente , Masculino , Melanoma/tratamento farmacológico , Melanoma/genética , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Mutação/genética , Estudos Prospectivos , Transdução de Sinais/efeitos dos fármacos , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/genética , Esferoides Celulares/efeitos dos fármacos , Células Tumorais CultivadasRESUMO
Excision of large and giant melanocytic nevi presents a distinct challenge to the pediatric plastic surgeon. The exact risk of malignant degeneration remains unknown. These unsightly lesions can be psychologically damaging to both parent and child. The pediatric plastic surgeon must have an armamentarium of techniques for reconstructing the various body areas and must always balance aesthetic and functional outcomes against an unknown but low risk of malignancy.
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Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/cirurgia , Criança , Humanos , Nevo Pigmentado/congênito , Neoplasias Cutâneas/congênito , Expansão de Tecido/métodosRESUMO
The authors believe that conchal hypertrophy plays a more significant role in ear prominence than has been indicated in the literature. Instead of focusing on the antihelical fold, this otoplasty technique emphasizes chondrocutaneous resection. With even limited resection and resuturing of the cut concha, the antihelix yields to posterior suture placement with a soft, smooth, rounded shape unmarred by any sharp, irregular surfaces.
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NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for NRAS Q61 mutations using Sanger sequencing. Negative cases were evaluated for BRAF V600E mutation. NRAS Q61 mutations affected 51 patients (77.3%), and BRAF V600E was found in 5 (7.6%). NRAS Q61 mutation affected 29 (80.6%) of 36 giant, 16 (80.0%) of 20 large, and 5 (62.5%) of 8 medium-size CMN; BRAF mutation affected 1 (5%) of 20 large and 4 (11.4%) of 36 giant CMN. Compared to NRAS, BRAF-mutated nevi show scattered/extensive dermal and subcutaneous nodules (100% BRAF+ vs 34.8% NRAS+) (P=0.002). Neurocutaneous melanocytosis (NCM) affected 16 (24.2%) of 66 patients, with NRAS Q61 mutation in 12 (75.0%), and BRAF V600E in 2 (12.5%), P=0.009. Two patients were negative for both mutations (12.5%). In conclusion, although NRAS Q61 mutations predominate, BRAF V600E mutation also affects patients with large/giant CMN (L/GCMN), and with NCM, a novel finding. BRAF V600E is also associated with increased dermal/subcutaneous nodules. These findings open the possibility of BRAF-targeted therapy in some L/GCMN and NCM cases.
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Mutação , Nevo Pigmentado/congênito , Nevo Pigmentado/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Proliferação de Células , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , GTP Fosfo-Hidrolases/metabolismo , Genótipo , Humanos , Lactente , Masculino , Melanócitos/metabolismo , Melanoma/metabolismo , Proteínas de Membrana/metabolismo , Síndromes Neurocutâneas , Nevo Pigmentado/patologia , Fenótipo , Estudos Prospectivos , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Resultado do TratamentoRESUMO
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark. OBSERVATIONS: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP. CONCLUSIONS: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.
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Dermatofibrossarcoma/congênito , Dermatofibrossarcoma/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia , Biópsia por Agulha , Criança , Pré-Escolar , Dermatofibrossarcoma/cirurgia , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Lactente , Masculino , Cirurgia de Mohs , Recidiva Local de Neoplasia/cirurgia , Medição de Risco , Estudos de Amostragem , Neoplasias Cutâneas/cirurgia , Procedimentos Cirúrgicos Operatórios/métodos , Resultado do TratamentoRESUMO
Primary alveolar rhabdomyosarcoma (RMS) involving perineal skin is extremely rare, particularly in the infant age group. We report a case of an alveolar RMS in a newborn with abnormal symmetrical perineal overgrowth, causing ambiguous morphologic structure of the genitalia. Clinical and imaging studies were suggestive of Proteus syndrome with lymphatic malformation. Histologic examination of the mass showed cutaneous alveolar RMS with areas of embryonal and pleomorphic RMS features. Multiple superficially located, cystic-dilated spaces with loose edematous-mucoid hypocellular stroma gave a gross morphologic structure similar to that of lymphatic-type excrescences.
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Rabdomiossarcoma Alveolar/patologia , Neoplasias Cutâneas/patologia , Feminino , Humanos , Lactente , PeríneoRESUMO
The authors present their experience with the design of expanded skin flaps gained over the past two decades in a large series of 995 expanded flap reconstructions performed in 626 operations in 430 patients. The indications for tissue expansion were giant congenital pigmented nevi (72.7 percent), scar contractures (11.2 percent), and a remainder for a variety of congenital and acquired deformities. Surgical strategies were reviewed retrospectively to determine the location in the body where the tissue expansion was performed, the number of procedures required to accomplish the reconstructive goal, and the design of the expanded flap that was used to reconstruct the involved area. Specific points that were noticed included contour deformities (such as webbing, dog-ears, or decreased limb circumference) following flap reconstruction, anatomic distortions (such as distortion of the eyebrow or the distance from the brow to hairline) following reconstruction, final position of the scars in relation to anatomic landmarks, borders of aesthetic units, and relaxed skin tension lines, and the potential for later scar contracture. Careful examination of reconstruction by region of involvement demonstrated significant advantages in the use of expanded transposition flaps over pure advancement. These advantages and the modifications in the design of expanded flaps for each body region are discussed in a series of representative cases. They emphasize the ability of transposition flaps to dissipate tension away from the flap apex and distribute it more proximally, thus redirecting the tension lines so there is less likelihood of anatomic distortion in the reconstructed area. Also, flaps designed in this manner allow improved contour by avoiding webbing, tenting across concavities, and bunching of skin laterally. The authors conclude that restricting the expanded flap design to advancement alone to minimize potential scarring severely limits the reconstructive capabilities of the added tissue and distracts from the surgeon's ability to accomplish the initial reconstructive goal. The cost of additional incisions is worthwhile to achieve better final contour of the reconstructed part, lesser risk of anatomic distortion, better position of the scars, and lowered risk of scar contracture.
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Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Criança , Cicatriz/cirurgia , Contratura/cirurgia , Extremidades/cirurgia , Face/cirurgia , Feminino , Humanos , Masculino , Pescoço/cirurgia , Nevo Pigmentado/cirurgia , Couro Cabeludo/cirurgia , Neoplasias Cutâneas/cirurgiaRESUMO
Linear nevus sebaceus syndrome is characterized by the association of nevus sebaceus covering extensive areas on the head and scalp with abnormalities of the central nervous system, ophthalmologic and skeletal changes, and malignancies. The incidence is approximately one per 10,000 live births, and there is no sexual predilection reported. The original description of this syndrome was followed by extensive literature describing the dermatologic, neurologic, and ophthalmologic manifestations of this disease. The objective of this report is to describe the surgical approach for the excision and reconstruction of giant sebaceous nevi of the face and scalp in children with linear nevus sebaceus syndrome on the basis of a consecutive series of five patients treated over 10 years in the same institution. To the authors' knowledge, this report represents the largest surgical series and suggests a reliable approach to the treatment of the cutaneous manifestations of this syndrome.
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Sistema Nervoso Central/anormalidades , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/cirurgia , Pré-Escolar , Feminino , Humanos , Lactente , SíndromeRESUMO
The recent fad of high ear piercing in the pinna has led to an increased incidence of auricular chondritis, which leads to dissolution of the cartilage and residual ear deformity. The typical postpiercing chondritis deformity presents as a structural collapse of the superior helical rim, scaphal cartilage, and the adjacent antihelix. The skin envelope is usually preserved, but it may be scarred from the infectious process and from previous drainage incisions. In the present article, the authors present a systematic approach to reconstruction of these acquired ear deformities. Careful assessment of the residual tissue is requisite to planning and appropriate reconstruction. The greater the cartilage loss, the more structural support is required to expand the skin envelope to its normal size and shape. The choice of cartilage donor site is made on the basis of the size of the defect and may include ipsilateral or contralateral conchal cartilage, bilateral conchal cartilage, or costal cartilage. Redraping of the carefully dissected skin and fixation of the flaps to the newly reconstructed cartilaginous framework usually provide sufficient soft-tissue coverage. A temporal-parietal fascial flap is preserved for the rare cases of extensive full-thickness skin loss or badly damaged and scarred auricular skin.