Neoumbilicoplasty with vertical island pedicle flap for a large pigmented umbilical nevus / Neoumbilicoplastia mediante plastia pediculada en isla por gran nevus pigmentado del ombligo

Introduction: The umbilicus is a unique physiologic scar of human body. Its absence leads to an unnatural abdominal appearance and can cause psychological and social complexes. Objective: To present a case of neoumbilicoplasty with vertical island pedicle flap for a large pigmented umbilical nevus. Clinical case: A healthy 50-year-old female patient with a history of a pigmentated nevus on the umbilicus since childhood that complains of changes in size and color of it. She also referred notice a lump in the upper umbilical region which was an umbilical hernia. The patient underwent an omphalectomy with oncological margins, an umbilical hernia repair and a neoumbilicoplasty with vertical island pedicle flap. Seroma was the only postoperative complication. Aesthetic results were acceptable and satisfied the patient. Conclusions: This is a rare case not only because the umbilical skin lesions are uncommon but the neoumbilicoplasty technique is rarely used(AU)

Introducción: El ombligo es la única cicatriz fisiológica del cuerpo humano. Su ausencia provoca un aspecto abdominal antinatural y puede provocar complejos psicológicos y sociales. Objetivo: Presentar un caso de neoumbilicoplastia con colgajo pediculado vertical en isla para un nevo umbilical pigmentado de gran tamaño. Caso clínico: Paciente femenina sana de 50 años con antecedentes de nevo pigmentado en ombligo desde la infancia, que refiere cambios en el tamaño y color de este. También refirió notar un bulto en la región umbilical superior que era una hernia umbilical. La paciente fue sometida a onfalectomía con márgenes oncológicos, reparación de la hernia umbilical y neoumbilicoplastia con colgajo pediculado vertical en isla. El seroma fue la única complicación postoperatoria. Los resultados estéticos fueron aceptables y satisficieron a la paciente. Conclusiones: Es un caso raro, no solo porque las lesiones cutáneas umbilicales son poco comunes, sino que la técnica de neoumbilicoplastia, rara vez se utiliza(AU)

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.

Application of subcutaneous asymmetric tension reduction combined with dermal buried angular mattress suture in surgical treatment of benign pigmented facial lesions in infants and preschoolers / 中华皮肤科杂志

Objective:To investigate the clinical efficacy of subcutaneous asymmetric tension reduction combined with dermal buried angular mattress suture in surgical treatment of benign pigmented facial lesions in infants and preschoolers.Methods:Totally, 100 infants and preschoolers with pigmented facial lesions were enrolled from the Department of Dermatology, Hanzhong Central Hospital and the Second Affiliated Hospital of Xi′an Jiaotong University from January 2018 to January 2019, and their clinical data were analyzed retrospectively. Among these patients, there were 59 males and 41 females, and their age ranged from 3 months to 5 years, with an average age of 15 months. All patients underwent outpatient surgery under local anesthesia, and sedative drugs were used before operation. The skin lesions were excised once or in stages according to their areas, and incisions were closed by using a subcutaneous asymmetric suture-based tension reduction technique, followed by dermal buried angular mattress sutures. After surgery, medical silicone gels and tension reduction devices were used for 6 months to 1 year, and postoperative follow-up was performed.Results:All patients were followed up for more than 1 year after surgery. Four patients showed suture rejection reaction within two months after surgery, and the incisions completely healed after the suture knots were discharged; cat′s ear-shaped scars were formed at the upper and lower ends of the incisions in 3 cases when the sutures were removed 1 week after surgery, no treatment was given, and the cat′s ear-shaped scars gradually became flat after 1 year of follow-up; fat liquefaction occurred in 1 case 4 days after surgery, re-suturing of the incision was done 1 week after the removal of internal sutures and drainage, and the incision healed well; 1 case developed infection 3 days after surgery, and then received the removal of internal sutures, drainage, and anti-infection treatment, re-suturing was performed after complete regression of the incision swelling, and the incisions healed well; scar hyperplasia occurred in 4 cases 3 to 6 months after surgery, and the scars became flat after the local injection of triamcinolone acetonide. In the remaining children, fine white linear scars were formed after the healing of incisions, the depressions and ridges at both ends of the incisions became flat, and there was no obvious pulling sensation in facial organs or formation of cat′s ear-shaped scars.Conclusions:Subcutaneous asymmetric tension reduction combined with dermal buried angular mattress suture can effectively reduce tension twice during delicate facial surgery in infants and preschoolers, and help to avoid incision widening and scar hyperplasia. The follow-up showed favorable long-term efficacy and aesthetic effect.

Cobb Syndrome Associated with Spinal Cavernoma ­ Case Report / Síndrome de Cobb associada a cavernoma medular ­ Relato de caso

Cobb syndrome, or cutaneomeningospinal angiomatosis, is a rare condition that affects young adults, and its etiology has not been completely elucidated. It is characterized by a cutaneous sign, or stigma, associated with spinal or intracranial malformations. The symptoms are quite diverse, but, in most cases, the disease presents motor deficit and pain. The present study reports the case of a 48-year-old female patient, who initially sought dermatological medical care for a single skin lesion in the posterior cervical region. During the excision, it was noticed that the lesion had contiguous behavior to the deep anatomical planes, thus requiring the evaluation of the neurosurgical team. The purpose of this report is to describe this rare disease, covering more details about diagnosis and therapy.

Síndrome de Cobb, ou angiomatose cutâneo-meningo-espinhal, é uma condição rara que afeta adultos jovens, e sua etiologia não foi completamente elucidada. Caracterizase por um sinal cutâneo, ou estigma, associado a malformações espinhais ou intracranianas. Os sintomas são bastante diversos, mas, na maioria dos casos, a doença apresenta déficit motor e dor. O presente estudo relata o caso de uma paciente do sexo feminino de 48 anos, que inicialmente procurou atendimento médico dermatológico para uma única lesão cutânea na região cervical posterior. Durante a excisão, notou-se que a lesão apresentava comportamento contíguo aos planos anatômicos profundos, exigindo assim a avaliação da equipe neurocirúrgica. O objetivo deste relatório é descrever essa doença rara, abrangendo mais detalhes sobre diagnóstico e terapia.

Bohring opitz syndrome: a rare case report

Bohring- Opitz syndrome (BOS) first described by Bohring et al in 1999, is a rare congenital disorder of unknown etiology. He described 4 cases with characteristic features. This syndrome is characterized by distinctive facial features and posture, growth failure, variable intellectual disability, and variable anomalies. The diagnosis of BOS is established in a proband with suggestive clinical features and/or Identification of constitutional heterozygous pathogenic variant in ASXL1 by molecular genetic testing. We presented a case which phenotypically and genetically matches the findings of this syndrome.

Right sided facial nevus with contralateral cavernous angioma in a child with Sturge Weber syndrome

Sturge Weber syndrome is a rare sporadic neurocutaneous syndrome. It has extra -oral manifestations mostly in form of unilateral port wine stain on face that are ipsilateral to intra-cranial lesions (mostly lepto-meningeal angioma), seizures, glaucoma and intra-orally by hemangioma of ipsilateral gingiva. We case report a child with Sturge Weber syndrome with facial nevus opposite to intra-cranial lesion, intra-oral port wine stain and gum hypertrophy. Other than contralateral intracranial lesion and facial nevus, challenge was whether to see gingival manifestations as part of syndrome or as drug side effect, as child was also on phenytoin, an anti-epileptic drug widely related to this condition.

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.

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.

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.

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.

Case report of PERCHING syndrome and literature review / 中华实用儿科临床杂志

The clinical data, laboratory testing, genetic testing results, diagnosis and treatment process of a child with PERCHING syndrome diagnosed and treated in the Department of Neonatology, the Third Affiliated Hospital of Zhengzhou University in June 2022 were retrospectively analyzed, and the relevant literatures were reviewed.The proband mainly presented with dyspnea and feeding difficulties after delivery, facial nevus flammeus, protrusion of eyes, small fissure of eyes, wide nasal root, limited opening of mouth, slightly high palatal arch, special posture, cryptorchid, hypospadias, and high muscle tone of limbs.Magnetic resonance imaging of the brain suggested possible agenesis of corpus callosum.Genetic testing showed complex heterozygous variations in the KLHL7 gene, and the two mutation sites have not been previously reported.A case of PERCHING syndrome caused by the KLHL7 gene mutation in China was reported for the first time, which provided new ideas for the diagnosis and treatment of children with PERCHING syndrome and reliable genetic evidence for family reproduction.

Improving diagnosis and treatment of melanocytic nevi in children: an urgent need / 中华皮肤科杂志

The morphological characteristics and biological behaviors of melanocytic nevi in children are different from those in adults. Up to now, the diagnosis and classification of melanocytic nevi in children are still based on international standards, there have been few Chinese studies on their comorbidities, nursing care and psychological effects, and their treatment is also confusing. Based on the relevant literature in China and other countries, and combined with clinical experience, the authors propose the diagnostic process, treatment and nursing suggestions for melanocytic nevi in children, and expect to carry out cooperative research with peers to standardize the diagnosis and treatment of melanocytic nevi in children.

Clinical and pathological analysis of 98 cases of malignant transformation of congenital melanocytic nevi / 中华皮肤科杂志

Objective:To analyze clinical and histopathological features of malignant transformation of congenital melanocytic nevi (CMN) .Methods:From January 2010 to September 2020, 98 patients with clinically and pathologically confirmed malignant transformation of CMN were enrolled from Xijing Hospital, Air Force Medical University, and their clinical and histopathological features as well as immunohistochemical staining and genetic testing results were retrospectively analyzed.Results:Among the 98 patients with malignant transformation of CMN, 45 (45.9%) were males and 53 (54.1%) were females. Their ages ranged from 4 months to 86 years, with a median age of 47 years. The lesions were located on the trunk (34 cases, 34.7%), limbs (25 cases, 25.5%), acra (24 cases, 24.5%), head, face and neck (13 cases, 13.3%), and mucosa (2 cases, 2.0%). Among the 98 patients, 95 (96.9%) had a history of obvious changes in lesions (sudden enlargement, newly developed papules, ulceration, itching, or pain), and the interval time from obvious changes in lesions to diagnosis varied from 2 weeks to 5 years; among the 95 cases, the average age at the onset of obvious changes in lesions was 46 years, and the changes of lesions occurred before the age of 18 years in 4 cases (4.1%), occurred between the age of 18 and 40 years in 35 (35.7%), and occurred after the age of 40 years in 56 (57.1%). In addition, 55 (57.9%) patients experienced a sudden enlargement of primary lesions, 52 (54.7%) developed ulcers in the primary lesions, 21 (22.1%) developed red or black papules or nodules on the surface of primary lesions, 4 (4.2%) developed subcutaneous masses, 2 (2.1%) had itching, and 1 (1.1%) only had pain. The remaining 3 (3.1%) patients experienced slow enlargement of primary lesions. Among the 98 cases of melanoma originating from CMN, 85 (86.7%) arose from small CMN, 11 (11.2%) from medium CMN, and 2 (2.0%) from large CMN. Histopathological examination showed no residual nevus cells in 86 (87.8%) cases, which only had characteristics of typical melanoma; residual nevus cells were only seen in 12 (12.2%) cases, and melanoma cells in the 12 cases all expressed HMB45, while residual nevus cells did not express HMB45 in 11 of 12 cases. Immunohistochemical staining for 5-hydroxymethylcytosine (5hmC) was conducted in 7 cases, and 6 showed negative staining in tumor cells and positive staining in residual nevus cells. BRAF gene detection was conducted in lesional tissue specimens from 22 patients, and it was negative in 1 case of melanoma originating from large CMN and 10 (47.6%) cases of melanoma from small CMN, and positive in 11 (52.4%) cases of melanoma from small CMN.Conclusion:The malignant transformation of CMN mostly occurred on the trunk, and was commonly observed in patients aged over 40 years; most patients had a history of obvious changes (sudden enlargement, newly developed papules, ulceration, etc.) in lesions before diagnosis, and a few patients only felt itching or pain in lesions; immunohistochemical staining of HMB45 and 5hmC could help to distinguish melanoma cells from dermal nevus cells; confirmation of the diagnosis of malignant transformation in CMN should be closely combined with clinical and histopathological results.

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.

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

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.

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.