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.

The association of BRAF V600E gene mutation with proliferative activity and histopathological characteristics of congenital melanocytic nevi in children

Abstract Background: A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented. Objective: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN. Methods: CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed. Results: The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAFV600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this datasets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells. Study limitations: A small sample of patients were included and there was no follow-up. Conclusions: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.

Pigmented lesions of the conjunctiva: The sheep and the wolf

Background: Pigmented lesions in the conjunctiva can be baffling to both the patients and the treating ophthalmologist because of their varied range of presentation and overlapping clinical features. The lesions range from incidental pigment deposition such as mascara and complexion?associated melanosis to malignant melanoma which poses a risk to life. Similarly, the management ranges from observation at regular intervals to aggressive surgery like exenteration. Purpose: We wanted to present a crisp and precise video of the good, bad, and ugly pigmented lesions of the conjunctiva, highlighting their specific clinical features important for the diagnosis and their management. Synopsis: This video describes the myriad of pigmented conjunctival lesions, their diagnostic characteristics, and management based on oncological principles. Link: https:// drive.google.com/file/d/1BYJ51rQtqjwM6e73BwrrLqdC1EoX A8Eu/view?usp=sharing. Highlights: Pigmented lesions can have variable presentation and close mimics, therefore, it is important to differentiate and identify the lesions accurately. This video highlights different pigmented lesions and their individual characteristic features

Bilateral Nevus of Ota with Phakomatosis pigmentovascularis treated with 1064 nm picosecond laser: A Case Report

Nevus of Ota is an uncommon dermal melanosis in the Indian subcontinent and is rarely associated with capillary malformations, classified as type II phakomatosis pigmentovascularis (PPV). It usually presents unilaterally as mottled, slate blue, or dark bro wn macules; bilateral presentation is only seen in a few cases. A 20 - year female presented to Dermatology OPD of a tertiary hospital with bilateral nevus of Ota involving the cheeks, temples, nose, forehead, and sclera of the eyes for one year. She also ha d a port wine stain on the right arm, forearm, back, bittock, and thigh since birth without any other systemic involvement. We treated nevus of Ota with six sessions of 1064 nm picosecond laser every month at 0.8 J/cm 2 with significant improvement in the appearance of the lesions and no adverse effects. This case highlights the importance of thoroughly examining pigmented lesions for additional cutaneous findings and the potential use of a 1064 nm picosecond laser to tr eat such lesions.

Nevo de Ota bilateral: presentación de un caso de distribución poco frecuente / Bilateral nevus of Ota: an unusual presentation

RESUMEN El Nevo de Ota, es una melanocitosis dérmica que se desarrolla por un defecto embrionario en la migración de los melanocitos desde la cresta neural a la piel y mucosas. Presentamos una paciente de 32 años, con Nevo de Ota bilateral de presentación infrecuente.

ABSTRACT Nevus of Ota is a dermal melanocytosis that develops due to an embryonic defect in the migration of melanocytes from the neural crest to the skin and mucous membranes. We report a 32-year-old female patient with a bilateral nevus of Ota with a rare manifestation due to its unusual distribution.

Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome / 浙江大学学报·医学版

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.

Blue Nevus Hidden within the Nevus of Ota / 中国医学科学杂志(英文版)

A 3-year-old boy presented with bluish patch and scattered blue spots on the left side of his face. After several sessions of laser treatment, the azury patch in the periorbital area became even darker. Histopathology showed many bipolar, pigment-laden dendritic cells scattered in the papillary and upper reticular dermis. Immunohistochemically, these cells were positive for S100, SOX-10, melan-A, P16, and HMB-45. The positive rate of Ki-67 was less than 5%. Finally, the lesion was diagnosed with nevus of Ota concurrent with common blue nevus. Therefore, for cases of the nevus of Ota with poor response to laser treatment, the possible coexisting diseases should be suspected.

Treatments of palpebral congenital melanocytic nevus: a systematic review

Purpose: Palpebral congenital melanocytic nevi (PCMN) is a rare congenital skin lesion affecting the eyelids that can lead to cosmetic and psychological concerns and potential health risks such as malignancy. Several authors have analyzed therapeutical strategies to treat PCMN. However, there was no consensus in the literature. This systematic review aimed to evaluate the effectiveness, safety, and success of treatments of PCMN. Methods: We conducted a systematic review following PRISMA guidelines from October 2022 to April 2023. We included all types of study designs that described or compared PCMN treatments and interventions, as well as histology, recurrence, adverse events, patient satisfaction, and malignant transformation. The search strategy was based on specific search words through the following databases: PubMed, Embase, Latin American and Caribbean Health Sciences Literature (Lilacs), Web of Science, and Scopus. Ongoing studies and gray literature studies were included. Results: We analyzed 25 case reports with 148 participants. The effectiveness, success, and satisfaction with various treatments for PCMN depend on the specific treatment method and the individual patient's case. Conclusions: Most of the studies showed that surgical procedures (exeresis) are able to treat PCMN in the eyelid. The variability in outcomes emphasizes the importance of further research to better understand the most effective and safe approaches for treating congenital melanocytic nevi.

Nevus apocrino puro: una entidad raramente sospechada / Pure apocrine nevus: a rarely suspected entity

Los nevus apocrinos puros son hamartomas de las unidades pilosebáceas caracterizadas por proliferaciones benignas de glándulas apocrinas maduras, la cual es una descripción microscópica realizada en los reportes de patología sin que se nombre el diagnóstico exacto. Considerando además, los diagnósticos diferenciales clínicos y la baja frecuencia de este diagnóstico, presentamos un caso clínico y una revisión del tema

Pure apocrine nevi are hamartomas of the pilosebaceous units characterized by benign proliferations of mature apocrine glands, which is a microscopic description made in pathology reports without the exact diagnosis being named. Considering the clinical differential diagnoses and its low frequency, we present a case report and a review of the literature on this topic

A Case Report of Nevus Trichilemmocysticus / 罕见病研究

This article reports a case of nevus trichilemmocysticus. The patient, a 48-year-old man, presented with multiple filiform keratoses and nodules. Physical examination identified multiple subcutaneous papules and nodules on the scalp, filiform keratoses on the face and bilateral ears, in addition to linear blackheads on trunk and limbs. The patient also exhibited hair loss and hypoplastic tooth. Histopathology revealed trichilemmal cyst. Nevus trichilemmocysticus is a rare organoid nevus. We reviewed literature in order to raise the awareness of the syndrome.

Spitzoid melanocytic tumors / 中华皮肤科杂志

Clinical and histological features of Spitz nevi, atypical Spitz tumors and spitzoid melanoma overlap each other, making their identification challenging. Combined with clinical and histological features of spitzoid melanocytic tumors, this review summarizes research progress in their immunohistochemical features and application of fluorescence in situ hybridization in their identification.

Clinicopathological profile of hyperpigmented skin lesions- A prospective study

Introduction: Hyperpigmentation is one of the most common reac?on to inflammatory, benign and malignant lesions of the skin. These disorders comprise heterogeneous group of diseases of epidermal and dermal hyperpigmenta?on divided into various types according to e?ology and pathology. Correct diagnosis of these hyperpigmented lesions is linked to histopathologic examina?on of skin biopsies with clinical correla?on. Aim: To study the spectrum of hyperpigmented skin lesions with reference to age and sex distribu?on. Materials and Methods: This prospec?ve cohort study was conducted at Department of Pathology, at Alluri Sitaramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India, which included 80 pa?ents who were clinically diagnosed with hyperpigmented skin lesions in all age groups from July 2014 to August 2016. Frequency and percentage sta?s?cs was used to present the results. Results: Out of 80 cases, 34 cases of inflammatory lesions, 23 cases of benign lesions and 23 cases of malignant lesions were reported. Among the post inflammatory lesions the majority were classical Lichen planus. Conclusion: Most common lesion was lichen planus and its variants with highest incidence in females and age group greater than 60 years. Histopathological diagnosis with clinical correla?on aids in effec?ve management of the pa?ents.

Nevo Melanocítico Congénito Gigante con hemangioma hepático asociado. Reporte de caso clínico. Revisión bibliográfica

El nevo melanocítico congénito gigante es una lesión pigmentada de gran tamaño presente al nacimiento. Su incidencia es de 1/1.000-500.000 recién nacidos. La localización más frecuente es el tronco posterior, la cara, el cuero cabelludo y las extremidades. El objetivo que buscamos con la presentación de este caso clínico es ofrecer una revisión actualizada sobre la evaluación al nacimiento, conducta y tratamiento a seguir por los neonatólogos y pediatra de atención primaria ante la inesperada presencia de las dermatopatías no tan frecuentes como la que nos ocupa. Se trata de un recién nacido que nace con un "nevo melanocítico congénito gigante" y que además se asocia con un hemangioma hepático diagnosticado en el ingreso. Valoramos la importancia de esta patología que radica en los problemas impactantes desde el punto de vista estético, quirúrgico y emocional que pueden originar en el paciente y sus familiares, además de la posible asociación con otras malformaciones del sistema nervioso central y en algunos de ellos, el riesgo de ser el origen de un melanoma.

The giant congenital melanocytic nevus is a large pigmented lesion present at birth. Its incidence is 1 / 1,000-500,000 newborns. The most frequent location is the posterior trunk, the face, the scalp and the extremities. We decided with the presentation of this clinical case to offer an updated review on the evaluation at birth, behavior and treatment to be followed by neonatologists, primary care pediatrician before the unexpected presence of dermatopathies not as frequent as the one we are dealing with today, the "nevus" giant congenital melanocytic ". The importance of this pathology lies in the impactful problems from the aesthetic, surgical and emotional point of view that can originate in the patient and their relatives, in addition to the possible association with other malformations of the central nervous system and in some of them, the risk of being the origin of a melanoma.

O nevo melanocítico congênito gigante é uma grande lesão pigmentada presente ao nascimento. Sua incidência é de 1/1.000-500.000 recém-nascidos. A localização mais frequente é o tronco posterior, face, couro cabeludo e extremidades. O objetivo que buscamos com a apresentação deste caso clínico é oferecer uma revisão atualizada sobre a avaliação ao nascimento, comportamento e tratamento a ser acompanhado por neonatologistas e pediatras da atenção primária na presença inesperada de dermatopatias não tão frequentes quanto a em questão. É um recém-nascido nascido com um "nevo melanocítico congênito gigante" e também está associado a um hemangioma hepático diagnosticado na admissão. Valorizamos a importância dessa patologia que reside nos problemas chocantes do ponto de vista estético, cirúrgico e emocional que podem se originar no paciente e em seus familiares, além da possível associação com outras malformações do sistema nervoso central e, em algumas de las, o risco de ser a origem do melanoma.

Sebaceous nevus of Jadassohn: review and clinical-surgical approach

Abstract Background: Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes. Objective: To describe the clinical manifestation of nevus sebaceous, as well as the main management techniques addressed in the medical literature. Moreover, the present study discusses a case report of a congenital linear nevus in the left retroauricular region found in a male patient, without extracutaneous manifestations. Method: A narrative review of the literature was carried out. Discussion: Nevus sebaceous occurs as lesions with a linear or oval appearance, with a smooth or verrucous texture, generally alopecic and with very variable color. Moreover, nevus sebaceous is one of the components of the so-called linear nevus syndrome or Schimmelpenning-Feuerstein-Mims syndrome, which is associated with multisystemic complications. The treatment of the lesions is still controversial; however, most experts indicate surgical excision as the most frequently adopted treatment method, in addition to multidisciplinary follow-up when the diagnosis of Schimmelpenning-Feuerstein-Mims syndrome is established. Conclusion: The linear nevus syndrome constitutes a rare manifestation; however, its diagnosis should be considered in children born with nevus sebaceous. There is no consensus yet on the best therapy, but surgical removal has shown to be a viable option.

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.

SYRINGOCYSTADENOMA PAPILLIFERUM OF SCALP – A CASE REPORT OF A RARE CUTANEOUS ADNEXAL NEOPLASM

Syringocystadenoma papilliferum is a rare benign hamartomatous tumor arising from apocrine or eccrine sweat glands with a predilection for head and neck. Here we report a case of a 30 year old female who presented to our opd with a nodule over scalp since birth which turned into a hairless , exophytic pinkish growth with blood tinged discharge slowly over the last 2 years . A punch biopsy of the lesion revealed syringocystadenoma papilliferum. Excision of the lesion is performed and specimen is sent for (hpe) histopathological examination which revealed syringocystadenoma papilliferum with no malignant transformation. Post operative recovery was uneventful and the patient was followed up till 6 months with no history of recurrence.

Clinical and histopathological profile of primary caruncular lesions

Purpose: To provide a retrospective analysis of lesions of the caruncle which have been very rarely reported in the literature. Methods: A retrospective review of all the caruncular lesions between January 2000 and January 2020 was done at a single tertiary eye care hospital. The lesions were classified as benign and malignant lesions. Clinicopathological correlation was done for the excised lesions. Results: A total of 87 caruncular lesions were included in the study. Males (59%) were affected more than females (41%). The mean age at presentation was 44 ± 20 years. The mean duration of complaint was 36 ± 62 months. A total of 36 patients underwent surgical excision whereas the rest opted for conservative management. Recurrence was noted in five patients. Fifteen different types of lesions were identified histopathologically. Benign lesions (78%) were far more common than malignant ones (22%). Epithelial inclusion cyst was the most common benign lesion and sebaceous gland carcinoma was the most common malignant lesion. Correct clinicopathological correlation was seen in 52.7% of the cases. Caruncular tuberculosis, oncocytoma, and basosquamous cell carcinoma were some of the rare lesions. Conclusion: Caruncular lesions are uncommon and very diverse, which makes clinical diagnosis challenging. Epithelial inclusion cyst and sebaceous gland carcinoma were the most common benign and malignant lesions respectively. Correct clinicopathological correlation was seen in more than half of the cases

Expression of endoglin, CD105, in conjunctival melanocytic nevi: Is it suspicious like in thyroidology? Oculi plus vident quam oculus?

SUMMARY Objective: The aim of this study was to evaluate the expression of endoglin and its correlation with histopathological and clinical findings in conjunctival nevi. Methods: The study included archival formalin-fixed, paraffin-embedded tissue sections of 44 patients with conjunctival nevi. Immunohistochemical staining for CD105 had been performed with monoclonal mouse antihuman CD105 antibodies. The intratumoral microvessel density for quantification of tumoral vascularization had been determined by this marker. Results: The expression of CD105 was positive in 30 (68.2%) cases. There was a statistically significant difference in the level of CD105 expression regarding the histological type of nevus (p=0.03) and intralesional cysts status (p=0.02). Spearman's rho (ρ −0.316) revealed a significant negative correlation between the expression of endoglin and the histological type of nevus (p=0.03) and between the expression of endoglin and the presence of intralesional cysts (ρ −0.380, p=0.01). Conclusion: This study suggests that endoglin could be a useful diagnostic and prognostic marker in differentiating between benign and malignant melanocytic ocular lesions.

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.

Papel da dermatoscopia na distinção entre tinea nigra e nevo melanocítico acral / Role of Dermoscopy in Distinguishing Tinea Nigra from Acral Nevus

A dermatoscopia é uma ferramenta prática e não invasiva que pode ser usada para distinguir a tinea nigra de outras lesões que parecem macroscopicamente semelhantes, incluindo o nevo melanocítico acral. Sob a dermatoscopia, a tinea nigra se apresenta com um padrão de deposição de pigmento marromacinzentado espiculado, enquanto o nevo melanocítico acral geralmente se apresenta como deposição de pigmento marrom em um padrão de sulco paralelo.

Dermoscopy is a practical, non-invasive tool that can be used to distinguish tinea nigra from other lesions that appear macroscopically similar, including acral nevus. Under dermoscopy, tinea nigra presents with a pattern of spiculated gray-brown pigment deposition, whereas acral nevus most often presents as brown pigment deposition in a parallel furrow pattern.