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Background: High-Intensity Focused Ultrasound (HIFU) has emerged as a precise and non-invasive modality for tissue ablation and healing. This study presents a detailed dermoscopic analysis of skin healing post-High-Intensity Focused Ultrasound (HIFU) treatment, focusing on common benign skin lesions, such as seborrheic keratosis, sebaceous hyperplasia, vascular lesions, and sebaceous nevi. Methods: Prior to HIFU treatment, a comprehensive assessment was conducted, integrating ultrasound scanning and clinical evaluations. The TOOsonix System ONE-M was employed for HIFU treatments, with parameters tailored to each lesion type. Results: A common pattern observed across all lesions includes initial whitening post treatment, followed by scab formation and the development of a pink area with reparative vessels. This study, however, highlights distinct differences in fibrosis patterns and healing timelines across different lesion types. Each lesion type exhibited unique fibrosis patterns post treatment. Flatter variants of seborrheic keratosis healed within a month, displaying hypopigmentation and reparative vessels, alongside a distinct lattice fibrosis pattern in more verrucous forms, which took about two months to heal. Sebaceous hyperplasia, characterized by rapid healing within three weeks, demonstrated fibrosis with pink areas and perpendicular white lines, concluding with a slight depression. Vascular lesions varied in healing time based on depth, with superficial ones showing whitening and crust formation, while deeper lesions had vessel occlusion and size reduction accompanied by concentric fibrotic bands. Sebaceous nevi presented the longest healing duration of three months, characterized by amorphous white-gray structures, scab formation, and the emergence of pink areas with branching vessels, leading to clear skin with reduced white lines. Conclusions: in conclusion, this meticulous clinical evaluation highlights the unique healing characteristics and timelines for each skin lesion type treated with HIFU. These insights are invaluable for optimizing follow-up assessments, identifying potential complications, and refining treatment protocols. By providing detailed insights into the healing timelines and patterns for different types of lesions, patients can be better informed about their post-treatment journey.
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Introduction: Sebaceous nevus (SN) is a benign skin hamartoma with a potent transformation in benign or malignant tumors in adolescents or adults. Due to the most common location in the esthetic zone, an SN makes patients seek a dermatologist for cosmetic concerns on the face or neck. The surgical excision of a large-sized SN in the esthetic zone may require reconstruction with a skin flap and be associated with recurrences and scar formation. Case Report: We describe the successful treatment of the large-sized neck SN with copper vapor laser (CVL) for the first time. A left-sided neck SN (linear size of 27 mm) in the 24-year-old Caucasian female completely resolved after eight CVL sessions. The settings were as follows: average power accounted for 0.8-1.0 W, with a ratio at green (511 nm) and yellow (578 nm) wavelengths of 3:2. The pulse duration was set as 20 nanoseconds, the repetition rate 16.6 kHz, the exposure time 200 ms, light spot diameter of 1 mm. The CVL treatment resulted in the complete disappearance of the SN without remote side effects such as hyperpigmentation, scarring or recurrences 24 months after the treatment. The patient was satisfied with the excellent cosmetic results. Conclusion: The CVL treatment of the SN provides the most relevant result due to the complete elimination of SN cells and the remodeling of the vascular bed supplying the involved areas.
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Nevus sebaceous (NS) presents as alopecia and yellowish discoloration during infantile stage. In adult stage, lesions become verrucous. Importantly, various appendageal tumors such as trichoblastoma, syringocystadenoma papilliferum and basal cell carcinoma develop during this stage. Hence it is very important to follow the course of NS for early detection of neoplasms. We are presenting a case of a 10-year-old patient with a dome-shaped, dark-pigmented nodule on the left side of neck nape, which later diagnosed as NS and removed with a carbon dioxide laser.
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Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D-resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.
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Carcinoma Basocelular , Lentigo , Síndromes Neurocutáneos , Nevo Pigmentado , Neoplasias Cutáneas , Esclerosis Tuberosa , Humanos , Síndromes Neurocutáneos/genética , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Nevo Pigmentado/genética , Nevo Pigmentado/patología , Carcinoma Basocelular/patologíaRESUMEN
Nevus sebaceus (NS) is a congenital hamartoma of skin structures including the epidermis, sweat sebaceous glands, and hair follicles. It is known that secondary tumors can occur in NS. However, secondary metastatic malignancies are rare. Basosquamous carcinoma (BSC) is an aggressive type of basal cell carcinoma (BCC) characterized by squamous differentiation. Herein, we report a case of metastatic BSC that developed in a 73-year-old male with NS. The clinical presentation of this patient was that of an ulcerative nodule developing in a longstanding plaque-like lesion consistent with NS. Histopathological examination revealed characteristic features of BCC with some areas of squamous differentiation in addition to the structure of a typical NS. Immunohistochemical expression of Ber-EP4, AE1/AE3, and epithelial membrane antigen helped to make the diagnosis of BSC.
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Carcinoma Basocelular , Carcinoma Basoescamoso , Carcinoma de Células Escamosas , Nevo , Neoplasias Cutáneas , Masculino , Humanos , Anciano , Neoplasias Cutáneas/patología , Nevo/patología , Carcinoma Basocelular/patología , Carcinoma de Células Escamosas/complicacionesRESUMEN
We herein report a 57-year-old man afflicted with multiple malignant tumors arising from a giant sebaceous nevus on his left parieto-temporal scalp and neck. The upper eyelid was resected in all layers, and the auricle was resected as well, leaving part of the external auricular cartilage; the parotid gland area was also resected over the parotid fascia. The lost part of the left eyebrow was reconstructed using an anterior forehead skin flap, and the residual defect was covered with skin graft and expanded scalp flap. This is probably the first case report of giant sebaceous nevus associated with three malignancies: sebaceous carcinoma, apocrine adenocarcinoma, and basal cell carcinoma.
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There are many different types of skin neoplasms in children and most are benign. Dermatologists should be able to differentiate between the various types of benign skin neoplasms and be able to recommend optimal treatment to concerned patients. Surgical removal of benign skin neoplasms is often the only treatment option. The aim of this paper is to provide a general overview of epidermal lesions (e.g., inflammatory linear verrucous epidermal nevus [ILVEN], nevus sebaceous), tumors of the epidermal appendages (e.g. pilomatrixoma), cutaneous neoplasms (e.g. angiofibroma), fibromatoses (e.g., knuckle pads), tumors comprised of fat, muscle, or bone tissue (e.g., osteoma cutis, subungual exostosis), epidermal cysts and pseudocysts, and pathologic fibrosis reactions after dermal injury (keloid). Scientific data are scarce and only in the last decade has it been possible to perform histopathological examinations and genetic studies together with detailed phenotyping to gain new understanding of the pathogenetic mechanisms.
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Quiste Epidérmico , Enfermedades del Cabello , Nevo Pigmentado , Nevo , Neoplasias Cutáneas , Niño , Humanos , Neoplasias Cutáneas/diagnósticoRESUMEN
Linear Sebaceous Nevus Syndrome is a rare disorder that presents with nevus sebaceus in association with corneal dermoids, colobomas, choroidal osteomas, and arachnoid cysts. It is thought to represent a mosaic RASopathy. These are disorders characterized by postzygotic somatic mutation in genes involved in RAS/MAPK signaling pathway. In this report we describe two patients with linear sebaceous nevus syndrome found to have mutations in codon 146 of KRAS with evidence of mosaicism. This specific mutation has previously been reported in Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis, two other mosaic RASopathies with predominantly cerebrooculocutaneous manifestations. These findings suggest that, while initially classified as different syndromes, these disorders should be evaluated and managed as a spectrum of related disorders.
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Predisposición Genética a la Enfermedad , Nevo Sebáceo de Jadassohn/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Preescolar , Codón/genética , Humanos , Lactante , Sistema de Señalización de MAP Quinasas/genética , Masculino , Mosaicismo , Mutación/genética , Nevo Sebáceo de Jadassohn/diagnóstico , Nevo Sebáceo de Jadassohn/patologíaRESUMEN
A sebaceous nevus is a congenital skin hamartoma caused by postzygotic HRAS or KRAS mosaic mutations. With age, affected individuals may develop secondary tumors within a sebaceous nevus. RAS mutations are harbored from the onset of sebaceous nevus, and further mutations can be expected to be required in order to explain the initiation of secondary tumors. However, genetic analyses of the secondary tumors have not been conducted. Herein, we describe the rare coexistence of a poroma and a trichoblastoma arising in a sebaceous nevus. This is the first report of an investigation of multiple genes in a secondary tumor in an SN. First, HRAS c.37G>C, which is the common mutation in sebaceous nevus, was detected in all three lesions (sebaceous nevus, poroma, and trichoblastoma). Next, to elucidate the potential second-hit mutations in the secondary poroma and trichoblastoma, we applied a panel sequencing for skin cancers that was newly developed in our institution. Our comparison of the mutational profile of 95 skin cancer-related genes in each of the three lesions newly revealed TP53 p.R158P in the poroma and NOTCH2 p.G329S in the trichoblastoma. TP53 p.R158P has been determined as a pathogenic mutation in other tumors, and NOTCH2 p.G329S was a novel mutation. We identified two novel mutations that may have contributed to the pathogenesis of the secondary tumor's development. The roles of the mutations remain unclear.
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Nevo Sebáceo de Jadassohn , Nevo , Poroma , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Humanos , Nevo Sebáceo de Jadassohn/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Neoplasias Cutáneas/genética , Neoplasias de las Glándulas Sudoríparas/genéticaRESUMEN
Epidermal nevus syndrome (ENS) represents a diverse group of rare neurocutaneous diseases associated with the presence of characteristic epidermal nevi (EN) in the skin and extracutaneous manifestations in the eyes, skeletal, urogenital and central nervous systems. We present a case series of 7 children with ENS, with specific attention to the neuroradiological characteristics of this entity.
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Objective:To investigate clinical manifestations and histopathological features of and surgical timing for cerebriform sebaceous nevus.Methods:Clinical data were collected from 14 children with cerebriform sebaceous nevus in Beijing Children′s Hospital from June 2014 to December 2019, and clinical manifestations, histopathological features and surgical timing were analyzed retrospectively.Results:Of the 14 children, 10 were males and 4 were females. They presented with skin lesions at birth, which were solitary and located on the head and face. These skin lesions gave a cerebriform appearance, with an average diameter of 4.79 cm. Systemic examination showed no abnormality in any children. Histopathological examination showed obvious papillomatous epidermal hyperplasia, large number of mature sebaceous glands and immature hair follicles. The 14 children underwent surgeries at an average age of 1.94 years. No recurrence was observed during the follow-up of 6 months to 6 years after surgery.Conclusion:Cerebriform sebaceous nevus is characterized by a unique cerebriform appearance, mostly occurs on the head and face, and is liable to attract attention, which usually leads to an earlier surgical selection.
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Sebaceous nevus (SN), is a skin hamartoma, combining a variety of epidermal, follicular, sebaceous, and apocrine abnormalities. Although usually present at birth, it may become apparent later in life appearing as a yellowish-brown, verrucous plaque with alopecia. SN is implicated with secondary tumors arising on the hairless plaque during the adulthood. Lichen planopilaris is a common, primary lymphocytic scarring alopecia of unknown etiology, characterized by lichenoid/interface perifollicular lymphocytic infiltrate occurring at the level of the infundibulum and the isthmus. Here, we present a case of a 48-year-old Caucasian male with lichen planopilaris lesions developing at the periphery of a preexisting SN. Our case raises the question, whether the development of lichen planopilaris was coincidental, or is it indicative of an etiologic association between the lichen planopilaris and SN.
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PURPOSE: To present the ophthalmic manifestations of a 3-month old female with SCALP syndrome. OBSERVATIONS: The patient presented with multiple ocular anomalies including bilateral limbal dermoids, esotropia and left optic nerve hypoplasia. CONCLUSIONS: We describe systemic and ocular anomalies in a rare case of SCALP syndrome. This report provides additional information on the ocular anomalies not previously described that may be associated with this clinical entity.
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Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the second part of this review article, we will look at nevi derived from the adnexal structures of the skin and associated syndromes.
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Neoplasias de Anexos y Apéndices de Piel/clasificación , Nevo/clasificación , Quiste Epidérmico/clasificación , Quiste Epidérmico/patología , Enfermedades del Cabello/clasificación , Enfermedades del Cabello/patología , Folículo Piloso/patología , Humanos , Neoplasias de Anexos y Apéndices de Piel/genética , Neoplasias de Anexos y Apéndices de Piel/patología , Nevo/genética , Nevo/patología , Nevo Pigmentado/clasificación , Nevo Pigmentado/genética , Nevo Pigmentado/patología , Nevo Sebáceo de Jadassohn/clasificación , Nevo Sebáceo de Jadassohn/genética , Cuero Cabelludo , Neoplasias Cutáneas/clasificación , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patologíaRESUMEN
Objective To investigate dermoscopic and reflectance confocal microscopic (RCM)features of sebaceous nevus in patients of different ages.Methods A total of 83 patients histopathologically diagnosed with sebaceous nevus were enrolled from Department of Dermatology of Wuhan No.1 Hospital between January 2016 and December 2016,and divided into 4 age groups (＜ 10 years,10-20 years,21-59 years,≥ 60 years) according to the age.The dermoscopic and RCM features were collected and analyzed.Results Among the age group of ＜ 10 years (21 cases),dermoscopic images of skin lesions showed that uniform,globular or plaque-shaped yellowish-red structures arranged in a cobblestone-like pattern were independently distributed in an orange background,with vascular proliferation and dilatation,while RCM images showed sebaceous gland hypoplasia and juvenile hair follicles.Among the age group of 10-20 years (28 cases),dermoscopy showed aggregated,non-hair follicle,round or oval yellow structures of varying sizes with telangiectases,while RCM showed botryoidal sebaceous glands at the dermal-epidermal junction and superficial dermis,which were characterized by tube-like or handle-like structure in the center,aggregated fish roe-like or frogspawn-like sebaceous gland lobules in the surrounding area and verrucous or papillomatous hyperplasia in the epidermis.The age groups of 21-59 years (30 cases) and 10-20 years showed the similar imaging manifestations.The main imaging manifestation of the age group of ≥ 60 years (4cases) was papillomatous hyperplasia.Conclusions Sebaceous nevus is a dynamic developmental disease,and its imaging characteristics obviously differ among different age stages.Sebaceous nevus has characteristic structures under dermoscopy and RCM,which can serve as efficient noninvasive diagnostic methods for sebaceous nevus.
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Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. This report not only highlights the importance of early diagnosis of this condition but also emphasizes the need for multiorgan screening in children with seizures and nevi.
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A 40-year-old woman presented with a pigmented nodule on a previously existing yellowish, verrucous plaque on the scalp. The histological diagnosis was consistent with a pigmented trichoblastoma developed within a sebaceous nevus (SN). A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found. These data support a common molecular landscape of the two lesions.
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Biomarcadores de Tumor/genética , Neoplasias de Cabeza y Cuello/genética , Mutación , Nevo Sebáceo de Jadassohn/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Cuero Cabelludo/patología , Neoplasias de las Glándulas Sebáceas/genética , Adulto , Biomarcadores de Tumor/análisis , Análisis Mutacional de ADN , Femenino , GTP Fosfohidrolasas/genética , Predisposición Genética a la Enfermedad , Neoplasias de Cabeza y Cuello/química , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Inmunohistoquímica , Proteínas de la Membrana/genética , Nevo Sebáceo de Jadassohn/patología , Nevo Sebáceo de Jadassohn/cirugía , Fenotipo , Proteínas Proto-Oncogénicas B-raf/genética , Cuero Cabelludo/química , Cuero Cabelludo/cirugía , Neoplasias de las Glándulas Sebáceas/química , Neoplasias de las Glándulas Sebáceas/patología , Neoplasias de las Glándulas Sebáceas/cirugíaRESUMEN
BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed. RESULTS: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified. LIMITATIONS: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study. CONCLUSIONS: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.
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Anomalías Múltiples/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Coristoma/diagnóstico por imagen , Cabello/anomalías , Meninges , Cráneo/diagnóstico por imagen , Venas/diagnóstico por imagen , Encéfalo/anomalías , Reacciones Falso Negativas , Reacciones Falso Positivas , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Placa Neural , Neuroimagen , Estudios Prospectivos , Estudios Retrospectivos , Cuero Cabelludo/patología , Cráneo/anomalías , Tomografía Computarizada por Rayos X , Ultrasonografía Doppler en Color , Venas/anomalíasRESUMEN
President of prewar Lvov and Polish Republic on Exile, associate professor Stanislaw Ostrowski was a dermatologist with a keen interest in dermatopathology. This study was based on original resources, which - mainly reports of his own authorship - were focused on dermatopathology. Stanislaw Ostrowski provided excellent description of naevus epitheliomatosus sebaceus Wolters-Friboes both in Polish and German to be cited after decades in renowned handbooks of dermatopahtology published by Springer Verlag. His scientific output also includes meticulous presentation of Fox-Fordyce disease (apocrine miliaria) as well as gold-induced skin changes to Polish readership. Thus, this study documents dermatopahtological achievements of Stanislaw Ostrowski - the unifying statesman of society of Lvov and Polish emigration in London.