Intraoral lesions associated with sebaceous nevus syndrome

The sebaceous nevus syndrome describes the rare association of a sebaceous nevus with systemic features such as mental retardation, seizures and colobomas (among others). It is thought to be a cutaneous mosaic inherited as a paradominant trait. Three cases are provided illustrating the intraoral manifestations of the syndrome. The first histological comparison of contiguous mucosal and cutaneous lesions is provided. We also describe the possible association of SFM syndrome with a benign fibrous histiocytic lesion of the mandible. This and other mandibular tumors associated with the sebaceous nevus syndrome may have significant implications for patients. Awareness of the potential presence or development of significant intraoral lesions in association with the sebaceous nevus syndrome is important for those involved in the care of patients with this syndrome.     

Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets

The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems. We present the history of a 52-year-old female patient with disproportionate hyposomia and asymmetric constitution. From birth she suffered from a right-sided, extensive nevus sebaceus following Blaschko's lines extending on the scalp, neck, right arm and trunk. At the age of 5 years, she developed a generalized growth retardation, along with deformations of bones. At the age of 11, hypophosphatemic rickets was diagnosed causing this growth retardation. Moreover, the patient developed a precocious puberty at the age of 9 years. When we saw the patient 40 years after the diagnosis had been made, phosphaturia had returned to normal. Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. We suggest to conduct appropriate laboratory tests in early childhood in patients with an extensive systematized sebaceous nevus or with additional signs of growth retardation or skeletal involvement, in order to exclude hypophosphatemic rickets associated with SFM syndrome.     

Nevus cells observed in the sebaceous glands

Of sebaceous gland-containing specimens of melanocytic nevi, a total of 79 specimens from 70 cases of nevocellular nevus (consisting of 10 cases of compound nevus and 60 of intradermal nevus), four cases of juvenile melanoma and three of blue nevus were examined light-microscopically in detail for the presence or absence of nevus cells or dermal melanocytes in the sebaceous glands. As a result, clusters of cells that appeared to be nevus cells were found in the sebaceous glands of specimens from a total of three cases, that is, two cases of nevocellular nevus i.e. compound nevus, and one of the cases of juvenile melanoma. Two cases were infantile and one case was the age of puberty. The origin of the nevus cells found in the sebaceous glands is discussed.     

Sebaceous nevus of Jadassohn: review and clinical-surgical approach

BackgroundNevus 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.ObjectiveTo 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.MethodA narrative review of the literature was carried out.DiscussionNevus 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.ConclusionThe 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.     

Ten cases of sebaceous carcinoma arising in nevus sebaceus

Although nevus sebaceus is known to develop various types of secondary neoplasms, it rarely causes carcinoma and only 14 cases of secondary sebaceous carcinoma have been reported. In this study, 10 cases of sebaceous carcinoma arising in nevus sebaceus were collected. The clinicopathological features and results of immunohistochemical examinations with adipophilin, perilipin and p53 were summarized. Sebaceous carcinoma arising in nevus sebaceous predominantly occurred on the scalp (8/10) of elderly women (mean age, 67.7 years). No case was associated with Muir–Torre syndrome. We found several pathological features of sebaceous carcinoma; that is, made up mainly of germinative cells, moderate nuclear atypia without pleomorphism and many mitoses (4–28/10 high‐power field). Adipophilin and perilipin antibodies highlighted lipid drops in the cytoplasm of the malignant cells in all cases. Overexpression of p53 was seen in all cases. In two cases there were coexisting benign‐looking sebaceous lesions at the periphery of the main cancer nodule, and in these lesions p53 showed low positivity compared with the clearly malignant area. There was co‐occurrence of another neoplasm in three cases with trichoblastoma, sebaceoma and syringocystadenoma papilliferum, respectively. All cases were treated by excision of the malignant lesion, with or without inclusion of the nevus sebaceus. In a follow‐up period of 1–7 years, there was no case of recurrence, lymph node metastases or distant metastases. With these specific pathological and immunohistochemical findings using adipophilin, perilipin and p53, we have to consider the possibility that there is a tendency to underdiagnose secondary sebaceous carcinomas in nevus sebaceus. These clinicopathological features of sebaceous carcinomas developing in the nevus sebaceus seem to indicate different biological entities from de novo sebaceous carcinoma.     

Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting

The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.     

Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition

Epidermal nevus syndrome is the term for the association of an epidermal nevus and extracutaneous anomalies, including neurologic, ophthalmic, and skeletal defects. Epidermal nevus syndromes include different disorders that share the feature of mosaicism. Phacomatosis pigmentokeratotica (PPK) is a distinctive new epidermal nevus syndrome first described in 1996 characterized by the presence of multiple organoid nevi with sebaceous differentiation, a speckled lentiginous nevus, and skeletal and neurologic abnormalities. Only a handful of cases of PPK without extracutaneous manifestations have been reported. We report here an individual with PPK with only cutaneous signs and confirm this distinctive syndrome has two subtypes according to the presence or absence of extracutaneous involvement.     

Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome

SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.     

Inguinal lymph nodes agenesia in a patient with Schimmelpenning–Feuerstein–Mims syndrome with proven somatic KRAS mutation

Schimmelpenning–Feuerstein–Mims (SFM) syndrome is a neurocutaneous disorder that can affect many body systems. The principal and most characteristic anomalies are craniofacial naevus sebaceous in association with neurological, ocular and skeletal findings. The presence of vascular malformations in this condition is unusual; nevertheless, vascular malformations have been suggested by many authors to be part of the spectrum of the same disease. Few cases have been published on the association of SFM with lymphatic malformations. This syndrome is categorized as a mosaic RASopathy due to postzygotic mutations in the HRAS, KRAS or NRAS genes. These genes are involved in the RAF-MEK-ERK signalling pathway, which is activated by mutant cells, increasing cellular proliferation. These mutations have been found only in naevus sebaceous cells, and may be also the explanation for many of the associated pathologies. We report a case of an 18-year-old boy diagnosed with SFM syndrome associated with lymphatic malformation in the legs and agenesia of the inguinal lymph nodes. The lymphatic alterations were diagnosed by gammography of the legs. The genetic diagnosis was confirmed by the presence of a KRAS postzygotic mutation in naevus sebaceous cells of a skin specimen. Genetically confirmed cases of mosaic RASopathies should be used to more accurately characterize phenotypic presentations of this syndrome and develop a future therapeutic strategy, such as molecular targeted therapy.     

How many epidermal nevus syndromes exist? A clinicogenetic classification

The term epidermal nevus syndrome is not suitable to describe an entity because there are different birth defects associated with epidermal nevi. A new classification is proposed to distinguish three well-defined syndromes, each recognizable by a different type of nevus. The sebaceous nevus syndrome and the Proteus syndrome are most likely due to autosomal lethal mutations and therefore always occur sporadically, whereas the CHILD syndrome can be transmitted from a mother to her daughter as an X-linked dominant, male-lethal trait. Moreover, the nevus comedonicus syndrome can be regarded as an entity closely related to this group of disorders. It may represent another autosomal lethal mutation that survives by mosaicism. In addition, several less well-defined phenotypes associated with epidermal nevi are reviewed. Some of them are regarded as entities in limbo.     

Sebaceous carcinoma arising in nevus sebaceus of Jadassohn: a clinicopathological study of five cases

The authors report a small series of sebaceous carcinoma developing in nevus sebaceus of Jadassohn (also known as organoid nevus) and analyze similar cases reported in the literature. All of our patients were females (age range 57-71 years; median 60 years) who had the organoid nevus on the scalp, face, or nuchal area, the rest of which was recognized clinically and/or histologically. All sebaceous carcinomas manifested unquestionable architectural (asymmetry, invasive growth) and cytological features of a carcinoma (cellular and nuclear pleomorphism, plentiful atypical mitoses, necroses en masse), demonstrated unambiguous sebaceous differentiation in the form of mature sebocytes, and lacked other differentiations. The sebaceous carcinoma was always accompanied by other benign or malignant adnexal lesions such as sebaceoma, syringocystadenoma papilliferum, syringocystadenocarcinoma papilliferum, trichoblastoma, tricholemmoma, desmoplastic tricholemmoma, or syringoma. In three cases, prominent mucinous metaplasia of sweat ducts and glands was seen. In two of these cases, sweat ducts exhibited hyperplastic changes. The analysis of the previously published material and our cases indicates that sebaceous carcinoma arising in organoid nevus has a female predilection and tends to occur in elderly patients. It may involve any site where nevus sebaceus typically occurs. Clinically, the tumor presents as a solitary nodule, ulcerated tumor, or mass, often with a recent history of rapid growth. It may arise alone, but it occurs more frequently as part of multiple benign and malignant adnexal tumors. The lesion does not seem to be associated with Muir-Torre syndrome. The rest of organoid nevus is usually recognized both clinically and microscopically, although large tumors may overgrow and mask the nevus. The tumor seems to be a low-grade carcinoma in terms of clinical behavior.     

Nevus sebaceous syndrome with facial hemihypertrophy

Abstract:  Nevus sebaceous syndrome is a member of the epidermal nevus syndromes group, and is characterized by extensive nevus sebaceous, seizures, and mental retardation. We present an affected 5-month-old boy who had facial hemi-hypertrophy and recurrent seizures.     

THE INVOLVEMENT OF THE SEBACEOUS GLAND BY NEVUS CELLS

Two cases of nevocytic nevi with nevus cells in the sebaceous gland were described. In the first case, the nevus seems to have been acquired but in the second case it is apparently congenital. As the sebaceous glands were presumably embryonic when the nevus cells settled into the corium, the immigration of nevus cells into the sebaceous glands might occur at the same time. The possibility of elimination of sebaceous cells by nevus cells is also pointed out.     

Basal Cell Carcinoma Arising in Nevus Sebaceous during Childhood

Abstract: Nevus sebaceous usually occurs as a solitary lesion located mostly on the scalp and the face. The potential for nevus sebaceous to develop malignancy is well recognized, though it is generally thought that this transformation occurs only postpubertally or later. However, few cases of basal cell carcinoma arising in nevus sebaceous before puberty were reported. Herein, we report a case of basal cell carcinoma arising in a nevus sebaceous on the scalp of a 10‐year‐old boy, and a review of the literature on prepubertal cases and the need for prophylactic surgery.     

Epidermal nevus syndrome and didymosis aplasticosebacea

Abstract:  The epidermal nevus syndrome is a disease complex consisting of the association of an epidermal nevus with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular, and urogenital systems. The epidermal nevi are classified according to their predominant component; nevus sebaceus (sebaceous glands), nevus comedonicus (hair follicles), and nevus verrucosus (keratinocytes). We report a neonate who presented with a nevus sebaceus on the scalp and face as well as a coloboma and dermoid on his left eye. Within the sebaceous nevus on the scalp, circumscribed lesions of aplasia cutis congenita were detected, which is consistent with the recently proposed term in the literature didymosis aplasticosebacea.     

Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components

Phacomatosis pigmentokeratotica is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. The disorder is a consequence of the so-called twin spot genetic mechanism. We describe the first occurrence involving malignant degeneration of both nevus components, giving rise to three basal cell carcinomas over the sebaceous nevus and a malignant melanoma of the superficial spreading type over the speckled lentiginous nevus. This observation, in concert with the other instances reported in the literature, points to the need for adequate patient follow-up to ensure early detection and treatment of any possible associated malignant degeneration.     

Epidermal nevus syndromes: clinical findings in 35 patients

Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty-five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31-year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.     

皮脂腺痣皮肤镜及反射式共聚焦显微镜特征分析

【摘要】 目的 探讨不同年龄患者皮脂腺痣的皮肤镜及反射式共聚焦显微镜特征。方法 2016年1 - 12月将武汉市第一医院皮肤科门诊经组织病理学确诊的83例皮脂腺痣患者,按年龄分成4组,采集、分析其皮肤镜及反射式共聚焦显微镜图像特征。结果 < 10岁组21 例,皮损在皮肤镜下表现为橘色背景下独立分布、较为一致的黄红色、球块状结构,似鹅卵石样排列,伴血管增生、扩张;反射式共聚焦显微镜下可见皮脂腺发育不全, 仅见幼稚毛囊。10 ~ 20岁组28例,皮肤镜下可见聚集分布、与毛囊无关、大小不同的黄色圆形、卵圆形结构,伴毛细血管扩张;反射式共聚焦显微镜下可见,真表皮交界处及真皮浅层葡萄串样皮脂腺结构,中央为管状/柄样结构,外周为簇集分布、鱼籽/蛙卵样增生的皮脂腺小叶,其上方表皮往往呈疣状/乳头瘤样增生。21 ~ 59岁组30例,影像学表现同10 ~ 20岁组。≥ 60岁组4例,影像学特征主要为乳头瘤样增生。结论 皮脂腺痣是一种动态发展的疾病,不同年龄阶段影像学表现不尽相同;在皮肤镜及反射式共聚焦显微镜下均具有特征性结构,可作为有效的无创性诊断方法。     

线状皮脂腺痣综合征1例

报告1例线性皮脂腺痣综合征，患者男，23岁，头皮中线，右前额至鼻尖和左面颊，下颌至颈部两片大面积皮脂腺痣，双眼角结膜胬肉样改变及高度近视眼底，X线片示蝶鞍增大，提示鞍区占位性病变。     

Gustav Schimmelpenning and the syndrome bearing his name

Gustav Schimmelpenning was born in 1928 in Oldenburg (Germany). From 1971 until 1994 he was head of the Department of Psychiatry at the University of Kiel. In 1957, while training in neurology and psychiatry, he comprehensively described a case of sebaceous nevus involving the head, with ipsilateral ocular lesions including coloboma of the upper lid, increased density of cranial bones, epileptic seizures and mental retardation. He concluded that this combination of anomalies represented a new 'phacomatosis'. Subsequently this phenotype was reported by other authors under many different names, such as 'Schimmelpenning syndrome', 'Feuerstein-Mims syndrome', 'Schimmelpenning-Feuerstein-Mims syndrome', 'epidermal nevus syndrome', 'Solomon syndrome', 'linear sebaceous nevus syndrome', 'organoid nevus phacomatosis', or 'Jadassohn nevus phacomatosis'. As a consequence of this confusing terminology, Schimmelpenning syndrome even has two different OMIM entries (no. 163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes.