A rare combination of sebaceoma with carcinomatous change (sebaceous carcinoma), trichoblastoma,and poroma arising from a nevus sebaceus

We report a case of a 48‐year‐old Malay female who presented with multiple tumors arising from a large nevus sebaceus on her right parieto‐temporal scalp. Histologically, the tumors corresponded to a sebaceoma with carcinomatous change, a poroma and a trichoblastoma. Immunohistochemical staining of the sebaceous tumor with p53 showed strong within the areas of carcinomatous change, while there was negative to weak staining within the sebaceoma‐like areas. A discussion on the potential secondary neoplasms from a nevus sebaceus ensues, with a review of this literature on multiple tumors from a nevus sebaceus.     

Apocrine intraductal carcinoma in situ in nevus sebaceus: two case reports

Ductal carcinoma in situ (DCIS) in the mammary glands consists of a proliferation of ductal luminal cells with preserved polarity but lacking the marked intercellular cohesion of hyperplastic cells. We report two cases of DCIS arising in the apocrine glandular structures of a nevus sebaceus (NS). The first patient was a 44‐year‐old woman with a ductal neoplasm composed of multilayered ductal elements with a monomorphous cellularity and a polar orientation of nuclei. The neoplastic cells were positive for Cm5.2 and CK7. The second patient was a 67‐year‐old woman with phacomatosis pigmentokeratotica. A skin biopsy of an erythematous plaque within her NS showed an epithelioid monomorphous tumor with eosinophilic and slightly granular cytoplasm. Slight nuclear pleomorphism with some hyperchromatic nuclei was seen. The tumor cells were positive for CK7 and gross cystic disease fluid protein‐15. Actin showed a preserved layer of myoepithelial cells in both cases. Our cases are noteworthy, as secondary malignancies or multiple tumors arising in NS are rare, and the presence of multiple neoplasms in phacomatosis pigmentokeratotica is even rarer. Moreover, these tumors expand the spectrum of secondary malignant neoplasms arising in NS, as they closely resemble mammary DCIS.     

Basal Cell Carcinoma and Syringocystadenoma Papilliferum Arising in Nevus Sebaceous on Face—A Rare Entity

Nevus sebaceus of Jadassohn is a congenital cutaneous hamartoma comprising of multiple skin structures. It has the potential to develop into variety of neoplasms of various epidermal adnexal origins. While multiple tumors may occasionally arise, it is unusual to develop two different types of tumor, benign and malignant, to arise simultaneously within a single sebaceus nevus. Here in, we report a case of a 27-year-old male with two neoplastic proliferations including a syringocystadenoma papilliferum a benign tumor and basal cell carcinoma a malignant tumor arising in a long-standing nevus sebaceus on the face. Neoplastic changes are common in nevus sebaceous present on scalp but our case is unique due to the presence of two different types of neoplasm in a nevus sebaceous which was present on face.     

Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas

Abstract: Nevus sebaceus (NS) is a congenital skin hamartoma that presents in childhood. Tumors may arise within these lesions over time. Mutations in the PTCH gene have been associated with both NS and some of the developing tumors. Only nine documented cases of basal cell carcinoma arising in nevus sebaceus in childhood are available. We present a case of an 8‐year‐old male with nevus sebaceus who developed a basal cell carcinoma. Evaluation for constitutional PTCH gene mutation and loss of heterozygosity (LOH) from the BCC within the NS did not reveal an underlying mutation. We further discuss the literature regarding prophylactic excision of NS.     

Signet ring cell melanocytic nevus: report of a case over trichilemmal cyst and review of the literature

Different melanocytic nevi have been reported as being associated with dermal cysts. Signet ring cell melanocytic nevus is a rare variant of melanocytic nevus characterized by cells with signet ring morphology within a common melanocytic nevus. This article describes an exceptional case of melanocytic nevus composed exclusively of signet ring cells over a trichilemmal cyst. Histologically, above the cyst, there was a small, symmetrical and sharply demarcated lesion showing a compound proliferation of small, round, monomorphous cells with signet ring morphology. Immunohistochemically, signet ring cells were negative for cytokeratin AE1/3, leukocyte common antigen, HMB-45, and CD34. Occasionally, isolated signet ring cells were positive for S-100 and melan A. Melanocytic nevus composed of signet ring cells should raise the differential diagnosis with other cutaneous tumors exhibiting signet ring cells. Previous cases of this entity reported in the literature are also reviewed.     

Giant proliferating trichilemmal cyst arising from a nevus sebaceus growing for 30 years

Nevus sebaceus of Jadassohn, a congenital cutaneous hamartoma, has the potential to develop into various epidermal adnexal‐origin neoplasms. While the most common neoplasms are trichoblastoma or syringocystadenoma, proliferating trichilemmal cysts are exceptionally rare. We report a case of a 63‐year‐old Cuban male with a giant proliferating trichilemmal cyst arising from a nevus sebaceus on the right shoulder which had been growing for 30 years. Proliferating trichilemmal cysts arising from nevus sebaceus cases are difficult to diagnose clinically and histologically as they are very rare and have not been defined by exact diagnostic criteria. Our case creates awareness of this particular tumor in nevus sebaceus and shares clinical and histological diagnostic information that can be used to make a proper diagnosis.     

Primary signet‐ring cell carcinoma of the axilla

Primary cutaneous histiocytoid or signet‐ring cell carcinoma represents an extremely rare adnexal neoplasm that most frequently presents on the eyelid but more rarely may present in the axilla. As this tumor can resemble metastatic carcinoma with signet‐ring cells, especially lobular carcinoma of the breast, it can often present a diagnostic challenge. We present a case of cutaneous signet‐ring cell carcinoma presenting in the axilla and outline the challenges of diagnosing this rare malignancy.     

Rippled-pattern trichoblastoma with apocrine differentiation arising in a nevus sebaceus: report of a case and review of the literature

A 36-year-old man developed a papular growth in a portion of a nevus sebaceus on the post-auricular scalp. Excision showed typical histologic changes of nevus sebaceus including epidermal papillomatosis with reduced numbers of hair follicles as well as numerous sebaceous glands high in the dermis that focally emptied directly to the overlying epidermis. Histologic sections of the papular growth at the superior pole of the nevus sebaceus showed a proliferation of cytologically bland basaloid epithelial tumor lobules both in the superficial dermis, with multiple connections to the epidermis, and within the deeper dermis in a nodular growth pattern demonstrating papillary mesenchymal bodies. Ductal structures with apocrine-type decapitation secretion were present. There was prominent palisading of nuclei in rows parallel to one another, alternating with bands of homogenous eosinophilic stromal material forming a ripple pattern resembling the Verocay bodies of schwannoma. The histologic features resembled those of rippled-pattern trichoblastoma with apocrine differentiation arising in a nevus sebaceus, an association not previously described. We discuss this case as well as review the literature on rippled-pattern trichoblastoma.     

Tumor of the follicular infundibulum: A clinicopathologic study

Background: Tumor of the follicular infundibulum (TFI) is a rare benign adnexal tumor that has characteristic histopathologic features.Objective: Our purpose was to describe the clinical and pathologic features of 12 patients with TFI.Methods: Of 121,500 cutaneous biopsy specimens recorded between 1981 and 1993, all TFIs were identified and examined by conventional microscopy. The clinical and histologic findings were compared with those of previously published cases.Results: Of the 12 patients, seven had a solitary tumor, two had eruptive TFI involving the face, and three TFIs were incidentally discovered in association with nevus sebaceus or fibroma. TFI-like changes were also observed in the wall of a hybrid cyst. The most discriminating features of TFI were the horizontal platelike organization of the tumor and the dense elastic network beneath the tumor. Of the different forms of TFI, only eruptive tumors can be clinically identified because they are small hypopigmented macules.Conclusion: We classify TFIs as (1) solitary tumors, (2) eruptive tumors, (3) TFI associated with other lesions of Cowden's disease, (4) TFI associated with a single tumor such as nevus sebaceus, and (5) TFI-like epidermal changes.     

Desmoplastic sebaceoma arising from nevus sebaceus: a new variant

Nevus sebaceus is known to have the potential to develop into various secondary tumors. We observed a sebaceoma arising from a nevus sebaceus excised from the left cheek of a 51‐year‐old woman. This sebaceoma showed desmoplastic change similar to that observed in desmoplastic trichoepithelioma and desmoplastic trichilemmoma. This heretofore undescribed desmoplastic variant of sebaceoma should not be mistaken for invasive sebaceous carcinoma.     

Apocrine cystadenoma arising in a nevus sebaceus of Jadassohn

An increased incidence of benign and malignant adnexal tumors has been noted to occur within the nevus sebaceus of Jadassohn. We report a case of a 41-year-old white woman with a blue cyst on her scalp which had recently developed within a congenital "birthmark." Excision of the lesion revealed that the nodule was an apocrine cystadenoma within a nevus sebaceus of Jadassohn. The clinical features of nevus sebaceus with apocrine cystadenoma are discussed and the various tumors which may arise within the nevus sebaceus are reviewed.     

Epidermal nevus syndromes: New insights into whorls and swirls

Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous‐skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions.     

Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning‐Feuerstein‐Mims syndrome – Histological differentiation between trichoblastomas and basal cell carcinomas

The hallmark of Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS) is a systematized nevus sebaceous that follows Blaschko lines and usually involves the face. It represents a rare congenital nevus syndrome with alterations of skin, bones, CNS, eyes and heart. Nevi sebacei can proliferate and develop into epithelial tumors like trichoblastoma, syringocystadenoma and basal cell carcinoma. The histological differentiation between basal cell carcinoma and trichoblastoma is difficult. We present an adult woman with SFMS who was followed by multiple specialties since birth without the correct diagnosis being made. She was referred to us with the diagnosis of multiple basal cell carcinomas of head and face. Our diagnosis of systematized nevus sebaceus was crucial for the correct classification of SFMS. We identified multiple trichoblastomas in the nevi sebacei and could exclude basal cell carcinomas. The essential clue was the detection of multiple Merkel cells within the epidermal layer by cytokeratin 20 staining.     

Metastasizing adenocarcinoma and multiple neoplastic proliferations arising in a nevus sebaceus

Nevus sebaceus of Jadassohn is a hamartoma of multiple skin structures. Many neoplasms have been reported to arise in association with nevus sebaceus, most commonly trichoblastoma/basal cell carcinoma and syringocystadenoma papilliferum. We report a case of a 66-year-old woman with an adenocarcinoma as well as multiple neoplastic proliferations arising in a long standing nevus sebaceus on the scalp, with subsequent occipital neck metastatic disease. On histologic evaluation, the epidermis showed changes reminiscent of tumor of the follicular infundibulum as well as basaloid proliferations resembling superficial trichoblastoma. A focus suggestive of syringofibroadenoma was also present. A small dermal collection of basaloid and more mature sebocytes was consistent with a sebaceoma/sebaceous epithelioma. Most of the lesion was composed of an adenocarcinoma with areas showing ductal differentiation with decapitation secretion, well-formed papillae and focal cribriform structures. Other portions demonstrated a high-grade neoplasm with prominent nuclear atypia and a solid pattern of growth resembling high-grade breast carcinoma. Anti-epithelial membrane antigen strongly labeled tumor cells and highlighted ductal structures. Less than 1% of cells expressed progesterone or estrogen receptors. Her2/neu reactivity was focally present, showing 1+ membranous reactivity in 10% of cells. Anti-p63 labeled basaloid cells surrounding the tumor lobules. A breast primary was ruled out by clinical and radiologic examination. This report illustrates an extraordinary case of adnexal neoplasia displaying various lines of differentiation arising in association with nevus sebaceus.     

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.     

Secondary neoplasms arising from nevus sebaceus: A retrospective study of 450 cases in Taiwan

Nevus sebaceus is frequently associated with the development of secondary neoplasms. Incidences of malignant transformation vary among different reports and few data is available regarding Asian populations. We aimed to determine the characteristics of secondary tumors developing from nevus sebaceus in a Taiwanese population and to review the published work. Patients with clinically and histologically confirmed nevus sebaceus were identified from 1992 to 2012 in a medical center. Among the 450 cases of nevus sebaceus, 38 secondary neoplasms were noted, accounting for 8.5% of all cases. Benign tumors represented more than 80% of all tumors. Syringocystadenoma papilliferum (2.7%) was the most common benign tumor, followed by trichoblastoma (1.6%) and trichilemmoma (1.6%) whereas basal cell carcinoma (0.9%) was the most frequent malignant tumor on nevus sebaceus and its clinical features were not typical. All the malignant tumors on nevus sebaceus were noted only in adulthood and the mean age of those with basal cell carcinoma was significantly older than that of trichoblastoma (P = 0.028). Our study concludes that malignant transformation is rare in nevus sebaceus and occurs uniquely in adulthood. On the basis of the findings, prophylactic excision of nevus sebaceus can be elective during childhood but is strongly advocated at puberty due to the increased risk of malignant transformation with time.     

Large, papillomatous, pedunculated nevus sebaceus: a new phenotype

Abstract:  We present five cases of an unusual phenotype of nevus sebaceus characterized by large, pink, exophytic nodules. In all cases, no evidence of extracutaneous disease or associated syndromes was observed. We review the clinical presentation of nevus sebaceus, the differential diagnosis of exophytic scalp tumors in the newborn, as well as management of these lesions.     

SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity

Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.     

Syringocystadenocarcinoma papilliferum in a linear nevus verrucosus

Syringocystadenocarcinoma papilliferum (SCACP), the malignant counterpart of syringocystadenoma papilliferum (SCAP), is a rare form of adenocarcinoma of the skin. Only 11 well‐documented case reports of SCACP have been published so far. An 83‐year‐old woman with a linear nevus verrucosus (LNV) on her right arm had a history of a nodule arising within this nevus that was diagnosed as SCAP by skin biopsy 7 years earlier. Since then, the nodule had enlarged gradually and formed an exophytic tumor with a moist surface, measuring 3 × 2.5 cm. The tumor was excised and studied by histologic examination. Although histologically the overall architecture of the tumor still resembled SCAP, transition to SCACP was obvious by the presence of areas of cytonuclear atypia, increased proliferative activity and infiltrative growth. The edges of the excised ellipse flanking the tumor showed typical microscopic features of LNV, but no organoid components of nevus sebaceus (NS).We report the 12th case of SCACP, the first case of SCACP on the arm and the first case of SCACP arising from pre‐existing SCAP, in what appeared to be an epidermal nevus. Hoekzema R, Leenarts MFE, Nijhuis EWP. Syringocystadenocarcinoma papilliferum in a linear nevus verrucosus.     

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.