Incontinencia pigmenti. progresión clínica y diagnóstico de un caso / Incontinentia pigmenti. clinical progression and diagnosis of a case

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.

Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

Melanosis neurocutánea: reporte de un caso y revisión de la literatura / Neurocutaneous melanosis. Case report and literature review / Melanose neurocutânea: relato de caso e revisão da literatura

RESUMEN Introducción: la melanosis neurocutánea es un trastorno congénito no hereditario que se caracteriza por la asociación de nevus pigmentados múltiples o de gran tamaño y una excesiva proliferación de melanocitos en el sistema nervioso central. La incidencia es similar en ambos sexos, y se observa historia familiar de melanoma en un único caso. Presentación del caso: se trata de un neonato masculino que nace en Hospital General de Luanda en Angola, con mancha melánica gigante que se extiende desde el cuello, cara, tórax, abdomen, espalda y miembros superiores, requiere una vigilancia de las lesiones dérmicas y un control de las crisis convulsivas. Discusión: se realizaron revisiones de la literatura médica disponible sobre el tema, consultando el programa de genética Oxford, y se tomaron fotos de las características clínicas sobresalientes. Por lo general los síntomas neurológicos son de temprana aparición en la etapa neonatal o de lactante con presencia de convulsiones de difícil control, al crear un pronóstico reservado. Conclusiones: se considera importante el seguimiento del neurodesarrollo de forma multidisciplinario para intervención oportuna si fuera necesario.

ABSTRACT Introduction: neurocutaneous melanosis is a non-hereditary congenital disorder characterized by the association of multiple or large pigmented nevi and an excessive proliferation of melanocytes in the central nervous system. The incidence is similar in both sexes, and a family history of melanoma is observed in a single case. Case presentation: this is a male neonate born at the General Hospital of Luanda in Angola, with a giant melanic spot that extends from the neck, face, chest, abdomen, back and upper limbs, requires surveillance of dermal lesions and control of seizures. Discussion: reviews of the available medical literature on the subject were conducted, consulting the Oxford genetics program, and photos of outstanding clinical features were taken. Usually the neurological symptoms are of early onset in the neonatal or infant stage with the presence of seizures that are difficult to control, creating a reserved prognosis. Conclusions: it is considered important to monitor neurodevelopment in a multidisciplinary way for timely intervention if necessary.

RESUMO Introdução: a melanose neurocutânea é uma doença congênita não hereditária caracterizada pela associação de nevi pigmentado múltiplo ou grande e uma proliferação excessiva de melanócitos no sistema nervoso central. A incidência é semelhante em ambos os sexos, e um histórico familiar de melanoma é observado em um único caso. Apresentação do caso: trata-se de um recém-nascido no Hospital Geral de Luanda, em Angola, com um ponto melanico gigante que se estende do pescoço, rosto, tórax, abdômen, costas e membros superiores, requer vigilância de lesões dérmicas e controle de convulsões. Discussão: foram realizadas revisões da literatura médica disponível sobre o tema, consultando o programa de genética de Oxford e fotos de características clínicas de destaque. Geralmente os sintomas neurológicos são de início precoce no estágio neonatal ou infantil com a presença de convulsões de difícil controle, criando um prognóstico reservado. Conclusões: é considerado importante monitorar o neurodesenvolvimento de forma multidisciplinar para intervenção oportuna, se necessário.

Congenital Ocular Melanocytosis: Case Report

Aims: To describe Congenital Ocular Melanocytosis.Presentation of Case: LPC, 7 years old, male, brown, with no previous comorbidities, was taken to the ophthalmology outpatient clinic of the Hospital Universit醨io Ant鬾io Pedro, Brazil by parents who alleged the presence of bluish-looking lesions in the sclera of the child's right eye since birth.Discussion: Congenital Ocular Melanocytosis is a rare pathology characterized by an increase in the number, size and pigmentation of melanocytes. Its pathophysiological picture is unknown, but it is believed to be due to an alteration in the migration of melanocytes from the neural crest to the epidermis during the embryonic process. This condition can be complicated by glaucoma and uveal melanoma. Gonioscopy is essential in these cases to assess whether there is pigmentation of the trabeculae, so that the propaedeutics of investigation of glaucoma becomes essential in these patients, since 10% of cases can complicate this condition.Conclusions: Congenital Ocular Melanocytosis early in life and the importance of monitoring these patients should be emphasized. Comprehensive tests are important for early detection and treatment, in order to improve the prognosis and avoid more severe consequences than what can happen from melanocytosis.

Utilidad del dermatoscopio en la correlación clínica e histológica de nevus pigmentados / Usefulness of Dermatoscopy in the clinical and histological correlation of Pigmented Nevi

Introducción: La precisión diagnóstica de los nevus pigmentados ha sido una constante preocupación por los dermatólogos. Objetivo: Identificar la utilidad del dermatoscopio en la correlación de las características clínicas y los patrones dermatoscópicos de nevus pigmentados y su asociación con el diagnóstico histológico. Métodos: Se realizó una investigación observacional, analítica, de tipo correlacional, con pacientes de la zona sur de Ciego de Ávila que acudieron a la consulta de dermatología del Hospital Provincial General Docente Dr. Antonio Luaces Iraola en el periodo de abril 2017 a diciembre 2019. Resultados: Predominó el sexo femenino, el grupo de edad de 21 a 30 años, el fototipo II de piel y la zona expuesta (cara y V del escote) (18 ;35,3 por ciento) sin relación entre estas variables. El diagnóstico histológico de nevus de la unión se encontró asociado a la simetría (p < 0,004), la pigmentación homogénea (p < 0,000), así como al patrón dermatoscópico reticular (p < 0,000), globular (p < 0,002) y homogéneo (p < 0,008). El nevus intradérmico se observó asociado a la característica clínica de pigmentación homogénea (p < 0,007), y al patrón dermatoscópico reticular (p < 0,000) y homogéneo (p < 0,005). El nevus compuesto no presentó relación con las características clínicas ni dermatoscópicas. El nevus azul solo se correlacionó con el patrón dermatoscópico homogéneo (p < 0,025). Conclusión: Los patrones dermatoscópicos fueron útiles para el diagnóstico clínico e histológico de los nevus pigmentados(AU)

Introduction: The diagnostic precision of pigmented nevi has been a constant concern of dermatologists. Objective: To determine the usefulness of the Dermatoscope in the correlation of the clinical characteristics and the dermoscopic patterns of pigmented nevi and their association with the histological diagnosis. Methods: An analytical observational investigation of a correlational type was carried out in patients from the southern area of Ciego de Ávila who attended the Dermatology consultation at the Antonio Luaces Iraola Provincial Hospital in the period from April 2017 to December 2019. Results: The female sex, the age group of 21 to 30 years, skin phototype II and the exposed area (face and V of the neckline) (18; 35.3 percent) predominated with no relationship between these variables. The histological diagnosis of junctional nevus was found associated with symmetry (p <0.004), homogeneous pigmentation (p <0.000), as well as the reticular dermoscopic pattern (p <0.000), globular (p <0.002) and homogeneous (p <0.008). The intradermal nevus was observed associated with the clinical characteristic of homogeneous pigmentation (p <0.007), and with the reticular (p <0.000) and homogeneous (p <0.005) dermoscopic pattern. The composite nevus was not related to clinical or dermoscopic characteristics. The blue nevus only correlated with the homogeneous dermoscopic pattern (p <0.025). Conclusions: The dermoscopic patterns were useful for the clinical and histological diagnosis of pigmented nevi(AU)

Nevo dividido na região genital: relato de seis casos / Divided nevus in the genital region, report of six cases

Os nevos divididos ocorrem em áreas contíguas da pele e, em sua grande maioria, são lesões benignas. Relatamos seis casos de nevo dividido no pênis e seus respectivos padrões dermatoscópicos. Levando em consideração a localização dessas lesões, o acompanhamento clínico foi a melhor opção terapêutica para este grupo de pacientes

The divided nevi occur in contiguous areas of the skin that are mostly benign lesions. We report six cases of nevus divided on the penis and its dermoscopic patterns. Clinical follow-up was the best therapeutic option for this group of patients, considering the location of these lesions.

Avaliação do uso de expansor de tecido em um serviço universitário / Evaluation of the use of tissue expander in a university service

Introdução: Expansão tecidual é um método de reconstrução importante para a cobertura de defeitos como queimaduras e nevos gigantes ou na reconstrução mamária. Esse artigo tem como objetivo relatar a experiência do Serviço de Cirurgia Plástica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR) com o uso de expansores. Métodos: Esse é um estudo retrospectivo, descritivo e analítico dos pacientes que foram submetidos à expansão tecidual para cirurgia reconstrutora no Hospital de Clínicas da UFPR, entre o período de janeiro de 2010 a dezembro de 2016. Resultados: Foram analisados 61 pacientes e 80 cirurgias, incluindo os procedimentos de reexpansão. A idade variou entre 2 a 73 anos (média 31). A grande maioria dos pacientes pertenceu ao sexo feminino (83,6%), na faixa etária acima de 40 anos, sendo submetidos ao tratamento para reconstrução mamária após mastectomia radical (36%). As complicações observadas nesses pacientes foram: sinais de infecção (14,7%), deiscência da sutura (3,2%), seroma (3,2%), defeito no expansor (3,2%), exposição do expansor (3,2%), necrose (1,6%) e sinais de hipoperfusão (1,6%). Pacientes submetidos à reconstrução mamária tiveram o maior número de complicações (40,1%). A reexpansão foi necessária em 37,7% dos pacientes. Conclusão: A técnica de expansão de pele é indicada para o tratamento de diversas patologias. O procedimento de expansão tecidual apresenta taxas de complicações altas e o conhecimento do perfil do paciente, dos principais tipos de complicações e dos fatores associados a essas complicações podem auxiliar na sua prevenção.

Introduction: Tissue expansion is an important reconstruction method to solve defects such as burns and giant nevi or breast reconstruction. This article aims to report the experience of the Plastic Surgery Service of the Hospital de Clínicas of the Federal University of Paraná (UFPR) with the use of expanders. Methods: This is a retrospective, descriptive, and analytical study of patients who underwent tissue expansion for reconstructive surgery at the Hospital de Clínicas da UFPR, from January 2010 to December 2016. Results: 61 patients and 80 surgeries were analyzed, including re-expansion procedures. Age ranged from 2 to 73 years (mean 31). The majority of patients were female (83.6%), aged over 40 years, undergoing breast reconstruction treatment after radical mastectomy (36%). The complications observed in these patients were: signs of infection (14.7%), suture dehiscence (3.2%), seroma (3.2%), defect in the expander (3.2%), exposure of the expander (3, 2%), necrosis (1.6%) and signs of hypoperfusion (1.6%). Patients undergoing breast reconstruction had the highest number of complications (40.1%). Reexpansion was necessary for 37.7% of patients. Conclusion: The skin expansion technique is indicated for several pathologies' treatment. The tissue expansion procedure has high complication rates. Knowing the patient's profile, the main types of complications, and the factors associated with these complications can help prevent them.

Vulvar melanocytic nevus: case report / Nevo melanocítico vulvar: relato de caso

ABSTRACT Pigmented vulvar lesions are uncommon; they occur in about 10%-12% of women and include benign and malignant processes, as well as post-inflammatory changes and hyperchromatic lesions due to melanin increase. Among the benign processes, there are vulvar nevi, present in 2% of adult women. There is a small subgroup classified as atypical melanocytic nevi that account for 5% of vulvar nevi and is associated with younger women. Despite the importance of early diagnosis, the clinical history and time of evolution of the lesion are not well explored, as patients rarely examine the region, as do dermatologists. We report a case of an melanocytic nevus in the small lip in a 43-year-old woman.

RESUMEN Las lesiones pigmentadas de la vulva son poco frecuentes; ocurren entre el 10% y el 12% en mujeres y abarcan procesos benignos y malignos, así como cambios post-inflamatorios y máculas hipercrómicas debido al aumento de la melanina. Entre los procesos benignos, hay nevos vulvares, presentes en el 2% de las mujeres adultas. Hay un pequeño subgrupo formado por nevos melanocíticos atípicos, que representan el 5% de los nevos vulvares y ocurren en mujeres más jóvenes. A pesar de la importancia del diagnóstico temprano, la historia clínica y el tiempo de evolución de la lesión no son muy explotados, pues las pacientes rara vez examinan la región, así como los dermatólogos. Presentamos un caso de nevo melanocítico en labio menor de una mujer de 43 años de edad.

RESUMO As lesões pigmentadas de vulva são incomuns; ocorrem entre 10% e 12% nas mulheres e abrangem processos benignos e malignos, bem como alterações pós-inflamatórias e lesões hipercrômicas devido ao aumento de melanina. Entre os processos benignos, há os nevos vulvares, presentes em 2% das mulheres adultas. Existe um pequeno subgrupo classificado como nevos melanocíticos atípicos, que representa 5% dos nevos vulvares e está associado a mulheres mais jovens. Apesar da importância do diagnóstico precoce, a história clínica e o tempo de evolução da lesão não são muito explorados, pois as pacientes raramente examinam a região, assim como os dermatologistas. Apresentamos um caso de nevo melanocítico em pequeno lábio em uma mulher de 43 anos.

Giant congenital melanocytic nevi: 40 years of experience with the serial excision technique

Abstract: Although giant congenital melanocytic nevus is a rare lesion, it causes significant deformity and carries a risk of malignant degeneration. Different surgical techniques for the lesion removal are described, including serial resection, resection with skin grafting, and resection and coverage with expanded skin flap (skin expanders). The aim of this study is to report the author's 40 years of experience with cases requiring at least 4 serial excisions to complete the treatment. Serial resection is an effective, safe, and simple technique that requires a lot of patience. Treatment often results in a single linear scar, requires no donor sites, nor large flaps. It is not subject to potencial complications of expanders and avoid aesthetic deformities depending on the location.

Comparison of Effects of Defferent Operation Ways in Treatment of Pigmented Nevus on Face and Neck / 昆明医科大学学报

Objective Through clinical observation and statistics, to get the best curative effect of surgical operation in treating pigment nevus method and provide clinical guidance. Methods We reviewed of face and neck patients (1100 patients) with pigmented nevus in the department in the department of the dermatology,plastic surgery from January 2013 to October 2015, two different methods was designed on each parts and effect of the treatment, especially satisfaction degree was analyzed by statistical methods.Results In 100 cases of patients, only 20 patients had mild scar hyperplasia at the neck incision and the rest of the patients were satisfactory. For special parts such as mouth,nose and eye around,along thedirection of the muscle, arc and along the direction of dermatoglyph incision was designed respectively, patients obtained with higher postoperative satisfaction (P<0.05) . Conclusion In pigmented nevus of face and neck surgery treatment, surgical incision design requires dynamic and static combining method,incision design is important for the postoperative effect and patients' satisfaction.

Melanoma developed during pregnancy - A case report

We describe a case of plantar interdigital cutaneous melanoma in a 22-year-old woman who reported changes in a pigmented lesion during pregnancy. Diagnosis was late and evolution unfavourable. The purpose of this report is to draw the attention of dermatologists to the need for careful regular examination of melanocytic lesions in pregnant women, not ignoring possible changes as always physiological.

A New Modality for Treating Congenital Melanocytic Nevus: "Cogwheel Pattern" Serial Excision Method

Congenital melanocytic nevus consists of congregations of nevomelanocytes. It is found in approximately 1% of new born infants. Congenital melanocytic nevus needs to be excised before it transforms into a malignant lesion. Many strategies have been attempted for the removal and reconstruction of the nevus. Serial excision enables wound closure to be accomplished with a shorter scar than if the original lesion was elliptically excised in a single stage and reorientation of the scar closer to the relaxed skin lines. The routine utilization of an elliptical serial excision as a standard method of closure often leads to the formation of elongated scars and waste of skin. The "Cogwheel pattern" serial excision is a new technique for reducing the size of the nevus efficiently. Reducing the final scar length, distributing the tension over many directions, and having the chance of decrease in operation numbers are ultimately achieved with the use of the "Cogwheel pattern" serial excision.

Investigation on Basal Cell Carcinoma that Recurred after Laser Ablation / 대한피부과학회지

BACKGROUND: In our outpatient clinic, we sometimes encounter basal cell carcinoma (BCC) patients that have a history of laser treatment without skin biopsy at private clinics. OBJECTIVE: To investigate BCC that recurred after laser ablation. METHODS: We performed a retrospective analysis of clinical reports of 635 BCC patients biopsy-proven from January 1997 to December 2012. Histopathological examination for BCC that recurred after laser ablation was done. RESULTS: Out of 635, 85 had a history of one or more laser treatments for BCC before visiting our hospital. The mean age of patients was 66.3 years, and the ratio of male to female was 1 : 1.24. The most common site was the face (91.1%). Out of 85, 19 were treated by dermatologists and 8 by non-dermatologists. Out of 85, 58 did not remember the doctor's specialty. Histopathological examination for BCC showed basaloid tumor cell nests and peripheral palisading in all patients and pigment deposits in over two third of the patients. One patient had accompanying intradermal nevocytic nests without transformation of nevus cell to basal cell carcinoma. CONCLUSION: BCC can be misdiagnosed as pigmented nevus and subsequently mistreated with laser ablation. Skin biopsy or dermoscopy should be considered to make a correct diagnosis when an ambiguous pigmented lesion is detected in a patient.

Síndrome do nevo de Becker: relato de caso / Becker's nevus syndrome: case report

O nevo de Becker se manifesta como uma mácula hipercrômica, localizada predominantemente no tronco anterior ou região escapular, e frequentemente associada à hipertricose. A coexistência do nevo de Becker e anormalidades cutâneas, músculo-esqueléticas ou maxilo-faciais corresponde à síndrome do nevo de Becker. Relata-se o caso de uma paciente de 16 anos, portadora desde os sete anos de mácula hipercrômica, localizada no tronco ântero-lateral direito, estendendo-se até a face medial da coxa direita, acompanhada de hipoplasia mamária ipsilateral. O exame anatomopatológico confirmou a hipótese clínica de nevo de Becker.

Becker's nevus is a hyperpigmented macula that is predominantly located on the anterior trunk or on the scapular region, frequently associated with hypertrichosis. The association of Becker's nevus with other cutaneous, musculoskeletal or maxillofacial anomalies has been called Becker's nevus syndrome. We report a case of a 16-year-old girl with a hyperpigmented macula which spread from her right anterolateral trunk to the inner part of her right thigh accompanied by ipsilateral mammary hypoplasia. The skin lesion started when the patient was seven years old when it was also noticed ipsilateral mammary hypoplasia. The histological exam confirmed the clinical hypothesis of Becker's nevus.

Multiple Scarring Following Removal of Pigmented Nevi by Acupuncture in an Oriental Clinic / 대한피부과학회지

The concept of oriental medicine is according to the Yin-Yang Doctrine and the Five Elements theory which is based on oriental philosophy. Traditionally, doctors of oriental medicine have practiced by feeling pulses for diagnosis, acupuncturing, and prescribing herbal medicine for treatment. Nowadays, however, most oriental doctors are having hard time in managing their own clinics by progressive worsening of the medical environment, because the numbers of patients are absolutely decreasing, but the numbers of oriental clinics are relatively increasing. Therefore, they are intending to overcome the difficulties by enlarging their field of medical treatment in various aspects, and introducing treatment remedies including unreasonable or unproved methods, especially into the field of dermatology. Here we present a case of multiple scarring of the face following removal of pigmented nevi by acupuncture in an oriental clinic. We report this case to emphasize the necessity of understanding the current status of dermatologic treatments conducted in oriental clinics, and to inform the dangerousness and correct medical information to the public.

Treatment of a Giant Pigmented Nevus using an Alloderm: A Case Report

Because a giant pigmented nevus has the risk of malignant transformation to malignant malanoma, early surgical excision is recommended. There have been various types of surgical methods in a giant pigmented nevus, for example dermabrasion, staged excision, skin graft, local flap and tissue expander. The authors have used an alloderm combined with a very thin split thickness skin graft in the treatment of a giant pigmented nevus. Among the 3 patients we operated in 1999, we could not find a significant cosmetic difference compaired with the conventional split thickness skin graft. Our method with the use of an alloderm combined with a very thin split thickness skin graft would be considerable in the treatment of a giant pigmented nevus, because it shows less visible scars in donor site than conventional split thickness skin graft. Moreover, we could harvest skin graft from the same site twice or more times.

Malignant Melanoma Arising from Giant Congenital Pigmented Nevus / 대한피부과학회지

According to the size of nevus, a congenital pigmented nevus may be classified as small, medium, and giant. Among these, giant congenital pigmented nevus is known to have high potential for malignant transformation. The rate of malignant transformation is different according to lesional anatomical sites. We describ a case of a 48-year-old man who had a maignant melanoma arising from giant congenital pigmented nevus on the left thigh. Wide excision and inguinal lymph node dissection were performed but distant metastases were found four months later.

A Case Report of Giant Pigmented Nevus Associated with Porencephaly: A Variant of Neurocutaneous Melanosis

Giant pigmented nevus is a variety of congenital melanocytic nevi, and may be associated with various abnormalities, such as skeletal malformation, lipoma, vascular nevi, melanosis in the meninges, meningocele, and intracranial arteriovenous malformation. We report a case with congenital giant pigmented nevus and porencephaly. This association should be considered as the spectrum of neurocutaneous syndromes related to congenital giant pigmented nevus.

Congenital malignant melanoma: a case report

Herein reported is a case of congenital malignant melanoma in a premature male baby from a 25-year-old healthy mother who was found to have hydramnios at the 29th week of gestation. The pregnancy was interrupted because of a large posterior neck mass detected by ultrasonography. The large neck mass of the baby was a malignant melanoma involving deep dermis and subcutaneous tissue. The skin over the mass showed a large area of pigmentation with hairs and the pigmentation involved the occipital scalp and posterior neck. Microscopically, the tumor cells were monotonous and showed polygonal and epithelioid appearance with prominent nucleoli indicative of malignant melanoma of a minimal deviation variety. Neither junctional components nor benign dermal nevus cells were noted. There were no distant metastasis or underlying leptomeningeal melanosis. This tumor is presumed to have developed from either preexisted congenital giant pigmented nevus with loss of benign components or de novo origin.

Congenital Giant Pigmented Nevus with Malignant Melanoma of Brain / 대한피부과학회지

We report a case of congenital giant pigmented nevus with malignant melanoma of brain in a 14-year-old male patient. He had giant pigmented nevus on the back and neck, and multiple satellite lesions over the whole body since birth. One year prior to visit to our hospital, the patient suffered from various neurologie symptoms including headache, nausea, vomiting, seizure and right side motor weakness. Flistologic findings of skin lesions were benign nevocytic nevi. Computed tomogram of brain demonstrated increased densities in the both fronto-parietal leptameninges and brain parenchyme. Histologic findings of brain parenchyme by stereotaxic long needle biopsy showed the infiltration of melanin containing atypical melanocytes. There was no evidence of malignant melanoma at other organs. All of these findings suggested that origin of malignant melanoma of brain parenchyme was leptomeninges rather than skin.