RESUMO
Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to pathological variants in CBL, also known as Noonan syndrome-like disorder (NSLD). We present a case of a 4-year-old boy diagnosed with NSLD, presenting with multiple melanocytic nevi and superficial neurofibromas. A literature review identified common cutaneous findings of NSLD, for example, café-au-lait macules (22%), juvenile xanthogranuloma (16%), and thin hair (10%). As there are no documented cases of neurofibromas associated with NSLD, and only a single report of multiple melanocytic nevi, inclusion of these features in the phenotype may be warranted and mitigate the necessity for future biopsies in other children.
RESUMO
Focal epithelial hyperplasia (FEH), or Heck's disease, is an uncommon HPV-related dermatosis that presents with multiple discrete papules or nodules on the lips, tongue, and gingival or oral mucosa. Treatment is often sought due to cosmesis, social stigma, and functional impairment. Treatment is challenging and a variety of treatment modalities have been attempted with varying degrees of success. This report describes the novel use of nano-pulse stimulation in the successful treatment of recalcitrant FEH of the upper and lower vermillion lip.
Assuntos
Hiperplasia Epitelial Focal , Hiperplasia Epitelial Focal/patologia , Humanos , Hiperplasia/patologia , Lábio , Mucosa Bucal/patologia , Papillomaviridae , TecnologiaRESUMO
Cellular neurothekeoma is a rare, benign cutaneous neoplasm. We report a case of cellular neurothekeoma arising on the mid-back of a 10-year-old boy within the previous radiation therapy field for medulloblastoma. Clinical features of cellular neurothekeoma in children are similar to those in adults, except that there have been no reports of local recurrence in children following surgical excision, and the presence of atypical histological features does not predict clinical behavior. Recognition of this entity in children is important to avoid misdiagnosis and overly aggressive treatments.
Assuntos
Neoplasias Cerebelares , Meduloblastoma , Neurotecoma , Neoplasias Cutâneas , Adulto , Neoplasias Cerebelares/radioterapia , Criança , Família , Humanos , Masculino , Meduloblastoma/radioterapia , Neurotecoma/diagnóstico , Neurotecoma/etiologia , Neurotecoma/patologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/radioterapiaRESUMO
Pigmented epithelioid melanocytoma (PEM) is an intermediate-grade melanocytic tumor with considerable histologic overlap with other melanocytic neoplasms such as epithelioid blue nevus (EBN), which is associated with the neoplastic syndrome Carney complex (CC). Next-generation sequencing is a valuable tool for identifying the primary drivers of melanocytic neoplasms and differentiating them from one another. While germline variants in the protein kinase cAMP-dependent regulatory type 1 alpha (PRKAR1A) gene have been associated with EBN and CC, fusions in protein kinase C-alpha (PRKCA) have been shown as sporadic drivers of PEM. Herein, we report the diagnosis and workup of a case of pigmented epithelioid melanocytoma with a novel protein kinase C-beta (PRKCB) fusion.
Assuntos
Nevo Azul , Neoplasias Cutâneas , Humanos , Nevo Azul/diagnóstico , Nevo Azul/genética , Nevo Azul/patologia , Proteína Quinase C beta , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/cirurgia , Tetraspanina 30RESUMO
An infant girl developed a hemangioma affecting her left iris concurrently with diffuse cutaneous infantile hemangiomas from day 2 of life. Intraocular hemangiomas are rarely reported and are usually associated with neonatal hemangiomatosis, the presence of which indicates a high risk for visceral lesions. This striking case highlights the unusual clinical presentation of iris hemangioma and demonstrates the importance of conducting visceral screening when faced with these lesions. Oral propranolol was commenced and resulted in rapid improvement of all lesions without complication.
Assuntos
Hemangioma Capilar , Hemangioma , Neoplasias Cutâneas , Feminino , Hemangioma/diagnóstico , Hemangioma/tratamento farmacológico , Hemangioma Capilar/diagnóstico , Hemangioma Capilar/tratamento farmacológico , Humanos , Recém-Nascido , Iris , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/tratamento farmacológicoRESUMO
Reflectance confocal microscopy is an innovative imaging modality, which noninvasively provides an optical image to aid in the diagnosis of skin lesions. While performing a skin biopsy for histopathologic analysis is the gold standard to definitively diagnose skin disease, this may prove to be more difficult in the pediatric population. This will occasionally necessitate sedation or general anesthesia as an approach, which carries a number of different risks. Reflectance confocal microscopy is an exciting new avenue in the support of diagnosing skin pathology, with the goal of improving pediatric patient tolerance and experience when examining epidermal and superficial dermal skin lesions. This review discusses the utility of reflectance confocal microscopy for pediatric dermatology patients pertaining to melanocytic and non-melanocytic skin neoplasms and inflammatory and infectious skin diseases in children.
Assuntos
Dermatologia , Criança , Humanos , Microscopia ConfocalRESUMO
Bluish nodular mammary lesions in prepubertal girls are a challenging diagnosis. Retroareolar cysts are rare in this population, but relatively common among adolescent women. This diagnosis can be suspected clinically and ultimately confirmed by cutaneous ultrasonography, avoiding unnecessary biopsies or complex radiologic studies.
Assuntos
Cistos , Adolescente , Biópsia , Mama , Cistos/diagnóstico por imagem , Feminino , Humanos , UltrassonografiaRESUMO
BACKGROUND/OBJECTIVE: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome. METHODS: We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. The types, prevalence, and localization of dermatologic findings were assessed. RESULTS: Fifty-one individuals (29 males, 22 females, mean age: 9 years) with clinical features of Proteus syndrome had the mosaic c.49G>A, p.Glu17Lys AKT1 variant. Fifty (98%) had at least one cutaneous feature constituting current clinical diagnostic criteria, including vascular malformations in 42 (82%), epidermal nevus in 41 (80%), volar cerebriform connective tissue nevi in 34 (67%), and adipose dysregulation in 30 (59%). Forty-nine (96%) had at least one dermatologic finding not included within the diagnostic criteria, including confluent volar skin-colored to hypopigmented papules or nodules (n = 33, 65%), papules or nodules on the digits or face (n = 27, 53%), and nonlinear epidermal nevi (n = 15, 29%). Other frequently observed features include nail changes (n = 28, 55%), hyperpigmented macules (n = 27, 53%), patchy dermal hypoplasia (n = 18, 35%), gingival/oral mucosal overgrowth (n = 17, 33%), hypopigmented macules (n = 16, 31%), dental enamel changes (n = 9, 18%), acrochordons (n = 6, 12%), and lingual overgrowth (n = 4, 8%). CONCLUSIONS: The range of mucocutaneous features occurring in Proteus syndrome is broader than previously considered. These observations may assist in earlier diagnosis and management and provide novel insights regarding the pathogenesis of the condition.
Assuntos
Nevo , Síndrome de Proteu , Neoplasias Cutâneas , Malformações Vasculares , Criança , Feminino , Humanos , Masculino , Nevo/diagnóstico , Nevo/epidemiologia , Nevo/genética , Síndrome de Proteu/diagnóstico , Síndrome de Proteu/genética , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/genéticaRESUMO
Verruciform xanthoma (VX) is a rare finding thought to be caused by epidermal damage from trauma or inflammation and has been reported in a limited number of patients with recessive dystrophic epidermolysis bullosa (RDEB). Herein, we describe a 20-year-old woman with RDEB who developed a large, verrucous, pink plaque on the posterior thigh that was histologically proven to be a VX. We review cases of VX in patients with RDEB and summarize the clinical features, pathophysiology, and management principles.
Assuntos
Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/patologia , Xantomatose/etiologia , Xantomatose/patologia , Feminino , Humanos , Adulto JovemRESUMO
OBJECTIVES: To identify clinical factors associated with complications of periocular infantile hemangioma (IH) and monitor improvement in complication rates post-treatment. METHODS: Retrospective cohort study. Eighty-nine patients diagnosed with periocular IH at a pediatric dermatology clinic of a tertiary care center between 2001 and 2013 were included with parental approval. Parents were interviewed by telephone between July and September of 2015, then again in January 2018 to inquire about ophthalmologic follow-up. Electronic medical records were reviewed from January 2001 through January 2018. RESULTS: Sixty percent of patients demonstrated ocular sequelae, including astigmatism (33%), visual axis obstruction (29%), nasolacrimal duct obstruction (7%), ptosis (4%), amblyopia (3%), and strabismus (1%). Compared with superficial IH, deep and mixed IH had higher odds, 3.4 (P = 0.025) and 3.8 (P = 0.034), respectively, of developing ocular sequelae. All patients with astigmatism prior to involution of IH received systemic therapy, with a significant post-treatment decrease in the proportion of patients with astigmatism (40% to 18%, P = 0.027). Three-quarters of patients experienced complete IH involution by time of enrollment in kindergarten. Fifty-one (57.3%) patients received formal ophthalmologic evaluation confirmed through chart review or phone interview, with average follow-up duration of 51.2 months (range: 1.9, 99.3). CONCLUSION: Deep and mixed IH were more likely to demonstrate ocular complications than superficial IH. Rate of astigmatism decreased with systemic therapy. Our study suggests that patients with periocular IH have a lower rate of amblyopia now compared with the prepropranolol era and emphasizes the importance of early treatment of periocular IH to prevent permanent visual sequelae.
Assuntos
Oftalmopatias/etiologia , Neoplasias Palpebrais/complicações , Hemangioma/complicações , Neoplasias Orbitárias/complicações , Oftalmopatias/terapia , Neoplasias Palpebrais/terapia , Feminino , Hemangioma/terapia , Humanos , Lactente , Masculino , Neoplasias Orbitárias/terapia , Estudos RetrospectivosRESUMO
We report a pediatric case of extensive, progressive benign cephalic histiocytosis (BCH) involving the face, trunk, and extremities with response of facial lesions to treatment with topical 1% rapamycin. A split-face model was used to demonstrate improvement on the treated side versus the untreated side. After physician and parental perception of effectiveness, based in part on photodocumentation, subsequently both cheeks were treated with continued improvement.
Assuntos
Dermatoses Faciais/diagnóstico , Dermatoses Faciais/tratamento farmacológico , Histiocitose/diagnóstico , Histiocitose/tratamento farmacológico , Imunossupressores/uso terapêutico , Sirolimo/uso terapêutico , Administração Cutânea , Pré-Escolar , Humanos , Masculino , PomadasRESUMO
Plexiform fibrohistiocytic tumor (PFT) is a rare neoplasm of mesenchymal origin that can be identified by its propensity for children and adolescents combined with a characteristic histologic arrangement of histiocytes and osteoclast-like giant cells whorled within tumor islands. A 5-year-old female presented with a raised, intermittently tender, and slowly enlarging tumor on her chest, which was histologically confirmed to be a PFT. We present this case along with a comprehensive review of PFT cases reported in the literature to describe the demographic, histologic, and rarely metastatic behavior of this entity. It is important to include PFT on the differential diagnosis of an enlarging tumor in the pediatric population.
Assuntos
Procedimentos Cirúrgicos Dermatológicos/métodos , Histiocitoma Fibroso Maligno/patologia , Histiocitoma Fibroso Maligno/cirurgia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Biópsia por Agulha , Pré-Escolar , Feminino , Histiocitoma Fibroso Maligno/diagnóstico , Humanos , Imuno-Histoquímica , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Prognóstico , Neoplasias Cutâneas/diagnóstico , Parede Torácica/patologia , Resultado do TratamentoRESUMO
We report a case of acral pigmented lesions due to pine tar, a common compound used on baseball bats to improve grip, deposition. The patient presented with an acute concern for a new melanocytic lesion, and dermoscopy revealed large brown globules, not typical of melanocytic neoplasms. We propose that the coupling of dermoscopy and a thorough clinical history of exogenous exposures in similar clinical presentations can provide reassurance in evaluating atypical appearing pigmented lesions.
Assuntos
Melanoma/diagnóstico , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/etiologia , Resinas Vegetais/efeitos adversos , Neoplasias Cutâneas/diagnóstico , Adolescente , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
Dermoscopic findings in umbilical granuloma are vascular polymorphism comprised of linear irregular and arborizing vessels with structureless areas distributed over a milky-red background. The increase of angiogenesis and neovascularization is represented by the linear irregular and arborizing vessels. Structureless areas over an irregularly milky-red background are originated by the proliferation of vascular endothelial cells and fibroblasts, with capillary and granulation tissue formation.
Assuntos
Dermoscopia , Granuloma/patologia , Dermatopatias/patologia , Umbigo , Anti-Infecciosos Locais/uso terapêutico , Feminino , Granuloma/tratamento farmacológico , Humanos , Lactente , Nitrato de Prata/uso terapêutico , Dermatopatias/tratamento farmacológicoRESUMO
Primary cutaneous CD4+ small- to medium-sized pleomorphic T-cell lymphoproliferative disorder (PCSM-LPD) is a rare and low-grade form of cutaneous T-cell proliferation with the average age of diagnosis of 54 years. Because of its rarity, the etiology or exact clinicopathology of PCSM-LPD remains unclear, with < 10 pediatric cases reported. A 13-year-old boy presented to our clinic with a raised tumor with PCSM-LPD histology and was successfully treated with ultra-low-dose radiation therapy. While no standard of care has been established for pediatric PCSM-LPD, this report represents an example of achieving remission in a pediatric tumor with minimal potential for therapy-related long-term toxicity.
Assuntos
Linfócitos T CD4-Positivos/patologia , Linfoma Cutâneo de Células T/radioterapia , Neoplasias Cutâneas/radioterapia , Adolescente , Humanos , Linfoma Cutâneo de Células T/patologia , Masculino , Pele/patologia , Neoplasias Cutâneas/patologiaRESUMO
Nevus comedonicus is a rare, benign hamartoma of the pilosebaceous unit that may be isolated or part of the nevus comedonicus syndrome. Although rare in children, complication by hidradenitis suppurativa-like lesions has been described. We present a report of a 9-year-old girl in whom surgical excision was curative, with a review of the relevant literature.
Assuntos
Hamartoma/complicações , Hidradenite Supurativa/etiologia , Nevo/complicações , Antibacterianos/uso terapêutico , Criança , Feminino , Hamartoma/diagnóstico , Hidradenite Supurativa/tratamento farmacológico , Humanos , Nevo/congênitoRESUMO
Dermal non-neural granular cell tumors, also known as primitive polypoid granular cell tumors, are a rare group of distinct cutaneous non-neural granular cell tumors. Pediatric cases are rare, and to the best of our knowledge, we report the youngest patient with dermal non-neural granular cell tumors.
Assuntos
Tumor de Células Granulares/patologia , Neoplasias Cutâneas/patologia , Pré-Escolar , Diagnóstico Diferencial , Humanos , Pele/patologiaRESUMO
Angiomatoid and desmoplastic Spitz nevi are rare histologic variants of Spitz nevi that present most frequently on the extremities of children and young adults. Although Spitz nevi are clinically heterogeneous, one presenting as a keloidal nodule has not been previously published. We present a case of an angiomatoid and desmoplastic Spitz nevus clinically akin to a keloid on an African-American teenager and describe its unique histopathologic features.