Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.

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.

Secondary Tumors Arising from Nevus Sebaceus: A Multicenter Collaborative Study and Literature Review.

BACKGROUND: Although various benign and malignant tumors can arise in nevus sebaceus (NS), the demographic and clinicopathological features of the secondary tumors vary among different published reports. The aim of this study was to obtain a better understanding of the features of tumors secondary to NS. METHODS: A multicenter study was performed by reviewing patients diagnosed with NS from the Dermatology Department of the First Affiliated Hospital of Chongqing Medical University and Qijiang Hospital of the First Affiliated Hospital of Chongqing Medical University from 2010 to 2022. A literature review of case series of secondary tumors arising in NS was also conducted. RESULTS: We retrospectively analyzed the literature on tumors secondary to NS published since 2000, with a total of 443 cases, and carefully studied cases of tumors arising in NS from multiple centers since 2010, with a total of 54 cases. There were 497 cases in this study; 90.3% were benign tumors (n = 449), and the rest were malignant tumors (9.7%, n = 48). Syringocystadenoma papilliferum was the most common benign tumor, followed by trichoblastoma and trichilemmoma. Basal cell carcinoma was the most common secondary malignant tumor to NS, followed by squamous cell carcinoma. Two of these cases developed metastasis. Secondary malignancies developed at an earlier age in Caucasians than in Hispanics and Asians. CONCLUSION: The present study is the largest analysis of tumors secondary to NS. Racial differences were seen in secondary tumors to NS and may contribute to healthcare disparities between races.

An updated review of the sebaceous gland and its role in health and diseases Part 2: Pathophysiological clinical disorders of sebaceous glands.

Sebaceous glands are sebum-secreting components of pilosebaceous units. In the second of this two-part series, we review the pathologies in which sebaceous glands are primarily and secondarily implicated. They are primarily involved in steatocystoma simplex and multiplex, sebaceous gland hyperplasia, sebaceoma, sebaceous adenoma, sebaceous carcinoma, nevus sebaceus, and folliculosebaceous cystic hamartoma. Sebaceous glands are secondarily involved in acne vulgaris, seborrheic dermatitis, and androgenic alopecia. Steatocystoma multiplex is a benign congenital anomaly presenting as yellow cysts primarily on the upper body. Sebaceous gland hyperplasia is characterized by yellow, telangiectatic papules with a central dell, and it can be treated with topical retinoids or surgical excision. Sebaceoma clinically presents on the head and neck region as a skin-colored nodule and can be distinguished by immunohistochemistry. Stains used in the diagnosis of sebaceous adenoma and carcinoma include epithelial membrane antigen and adipophilin immunoperoxidase. Surgical excision is the preferred treatment for sebaceoma, sebaceous adenoma, and sebaceous carcinoma. Excision is not always indicated for nevus sebaceus. Folliculosebaceous cystic hamartoma is a relatively rare condition exhibiting both epithelial and mesenchymal components. Patients with acne vulgaris commonly present with papules of closed and open comedones displaying hypercornification. Seborrheic dermatitis presents as sharply demarcated yellow or red patches or plaques; antifungal agents, corticosteroids, and combination antifungal/anti-inflammatory therapies are common treatment modalities. As a result of hair follicle miniaturization, females with androgenic alopecia present with diffuse hair thinning, while men tend to present with balding and hairline recession.

Hamartomas of skin and soft tissue.

Hamartomas are benign lesions composed of aberrant disorganized growth of mature tissues. Choristomas are similar, except that they are composed of tissues not normally found at the anatomic site in which the lesion is arising. A wide range of hamartomas and choristomas can arise in the skin and soft tissue. Some of these may cause diagnostic difficulty and potentially be mistaken for neoplasms. Some neoplasms may resemble hamaratomas. Here we review the current clinical and pathologic features of these lesions, both common and rare, and discuss how to distinguish them from other entities in the differential diagnosis.

Hyperplastic sensory corpuscles in nevus sebaceus of labia minora pudendi. A case report.

A vulvar case of nevus sebaceus is presented. During the routine histopatological examination, attention was drawn by several corpuscular structures. Immunohistochemistry demonstrated that they were sensory corpuscles, identified respectively as Meissner-like and glomerular corpuscles. Nevertheless, compared with typical Meissner corpuscles from digital glabrous skin, Meissner-like corpuscles identified here were bigger, the axon showed an irregular course, and the lamellar cells were smaller. Regarding the glomerular corpuscles they were bigger but with a normal arrangement of the corpuscular constituents. These findings suggest that these cutaneous sensory corpuscles are part of the nevus sebaceus hamartoma.

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.

Linear trichilemmomas on the ankle of a 28-year-old female.

Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth. A shave biopsy confirmed the diagnosis of trichilemmoma with focal desmoplastic features (or desmoplastic trichilemmoma). A PTEN immunohistochemical study showed patchy (but not complete) loss of staining of the lesional cells. After shave removal, the trichilemmomas recurred 1-2 months later.

Trichoblastoma, syringocystadenoma papilliferum, desmoplastic trichilemmoma and tumor of the follicular infundibulum with signet-ring cells, all arising in nevus sebaceus.

Herein, we describe a 63-year-old male with multiple tumors arising within a nevus sebaceus on the posterior scalp. On histopathologic examination, four distinct tumors were identified: trichoblastoma, syringocystadenoma papilliferum, desmoplastic trichilemmoma and tumor of the follicular infundibulum (TFI). Within the TFI component of the nevus sebaceus, there was intracytoplasmic accumulation of eosinophilic keratin, as shown on pancytokeratin-stained sections, imparting a signet-ring appearance to the cells. To our knowledge, this is the first report of signet-ring cells arising within a TFI occurring in a nevus sebaceus. We discuss this case as well as review the literature on multiple tumors arising within nevus sebaceus and signet-ring cell changes in primary cutaneous tumors.

Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases.

BACKGROUND: Nevus sebaceus is commonly associated with the development of secondary neoplasms. Data on the frequency of malignant tumors vary considerably in published reports. OBJECTIVE: We sought to analyze the distribution of secondary neoplasm in nevus sebaceus. METHODS: A retrospective analysis of all cases of nevus sebaceus diagnosed at the Ackerman Academy of Dermatopathology from 1999 to 2012 was conducted. RESULTS: A total of 706 patients (707 specimens) were included in the study. Trichoblastoma was the most frequent benign tumor (n = 52, 7.4%) followed by syringocystadenoma papilliferum (n = 33, 5.2%). Malignant tumors were present in 2.5% of the specimens with basal cell carcinoma being the most common (n = 8, 1.1%) followed by squamous cell carcinoma (n = 4, 0.57%). The incidence of secondary neoplasms was statistically related to age and anatomic site (P < .05). Almost all malignant tumors were seen in adults. LIMITATION: Some of our cases were referred for second opinion and there may be a bias in our data toward unusual secondary neoplasms. CONCLUSION: Our study confirms that most of the secondary neoplasms arising in association with nevus sebaceus are benign. As no malignant tumors were seen in children, we believe it is reasonable to delay surgical management until adolescence.

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.

Syringocystadenocarcinoma papilliferum: a systematic review of clinical characteristics, reappraisal of associations, diagnostic pitfalls and management challenges.

Syringocystadenocarcinoma papilliferum (SCACP) is a rare and aggressive malignant adnexal tumor originating from apocrine or pluripotent appendageal glands, often associated with a preceding syringocystadenoma papilliferum (SCAP) or nevus sebaceus (NS). This systematic review rigorously examines SCACP through an analysis of 78 cases documented between 1980 and 2024. The study aims to provide a comprehensive review of the clinical manifestations, diagnosis, treatment modalities, and outcomes associated with SCACP, while also reappraising its associations, particularly with NS. SCACP predominantly affects older adults, with an average age of 66.3 years and a slight male predominance, commonly presenting as ulcerated nodules or plaques on the scalp. This review highlights the aggressive nature of SCACP, evidenced by significant rates of metastasis and recurrence. Treatment is primarily surgical, with Mohs micrographic surgery offering potential benefits in terms of margin control and cosmetic outcomes. The association of SCACP with NS is critically evaluated, suggesting a complex etiopathogenesis and underscoring the importance of recognizing this association for timely diagnosis and management. Our review also briefly discusses potential pitfalls faced by clinicians in the diagnosis of SCACP. Our findings emphasize the need for standardized treatment protocols and further research into targeted therapies to improve patient outcomes in SCACP.

[Update on nevi and nevoid skin disorders]. / Neues über Nävi und nävoide Hauterkrankungen.

Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Unlike common sebaceous nevus (HRAS or KRAS mutations), cerebriform sebaceous nevus is caused by a postzygotic lethal FGFR2 mutation. Cutis marmorata telangiectatica congenita and reticular capillary nevus have previously been considered one single entity. Today, their dichotomy is proven at the molecular level. It is important to be aware of the new port-wine nevus of the AKT3 type because this anomaly may constitute a cutaneous marker of severe congenital brain defects. The newly described transient abdominal telangiectasia in newborns can easily be mistaken as a capillary nevus, but represents an innocuous neonatal phenomenon that spontaneously fades away within the first three months.

Atypical Nevus Sebaceus at an Unusual Location Treated with Carbon Dioxide Laser: A Case Report.

Nevus sebaceus (NS) or organoid nevus is an epidermal nevus comprising predominantly sebaceous glands with a prevalence of approximately 0.3% of the newborns. The initial clinical manifestations of NS are single or less commonly multiple yellowish patches with overlying alopecia, usually confined to the scalp. However, it can also appear on the face, preauricular area, and the neck. During puberty, skin lesions will turn into round or linear verrucous plaques accompanied with an increase in number due to the influence of androgens. As they progress, about 20% of the NS cases might turn into secondary tumors which can be benign or malignant (in 2.5% cases). NS can manifest as atypical lesions and may also arise on areas other than its predilection sites. A case of a lesion presented on an atypical location of an 18-year-old male patient treated with carbon dioxide (CO2) laser was reported. Physical examination revealed skin-colored and blackish-brown papules arranged in groups on the left side of the patient's chest. Histopathological examination on a sample taken from one of the skin lesions on the chest showed hyperkeratosis, acanthosis, papillomatosis, and sebaceous hyperplasia, confirming the diagnosis of NS. The patient was treated with CO2 laser, and clinical improvements were observed. Histopathological examination of NS is not routinely performed; however, it should be carried out when the lesion is atypical and presented at an unusual location, or there is a suspicion of malignancy.

Secondary Malignant Tumors Arising in Nevus Sebaceus: Two Case Reports.

Nevus sebaceus is a benign tumor that is present at birth and is often seen on the scalp or face. Secondary malignant tumors sometimes occur in nevus sebaceus in adulthood. Herein, we present two malignant tumors arose from nevus sebaceus. One is basal cell carcinoma on the face and the other is sebaceus carcinoma on the lower back, where nevus sebaceus rarely occurs. Basal cell carcinoma sometimes develops in sebaceus nevus after a few decades, seen usually on the scalp or face. Sebaceus carcinoma is a rare malignant tumor that arises in nevus sebaceus.

Nevus Sebaceus Arising Within a Scalp Whorl of a Healthy Male Neonate.

Nevus sebaceus (NS) and scalp whorl are both benign congenital findings that have not previously been reported to occur simultaneously. In most cases, the isolated finding of a single, classic-appearing NS or a single hair whorl can be followed clinically with observation. However, the number of lesions, distribution, and size of NS along with atypical placement of a scalp hair whorl can indicate an underlying syndrome or even underlying cranial abnormalities. We present a unique case of NS arising within a hair whorl on the vertex scalp of an otherwise healthy male neonate. After ultrasound showed no vascular malformations or proliferations and no cranial extension at the site, the lesion was later treated with surgical excision at six months old per the parents' preference, thus allowing for histologic confirmation of NS. Additionally, we discuss herein the diagnostic implications, recommendations for work-up, and treatment options of NS.

Multiple secondary neoplasms in nevus sebaceus excision.

Nevus sebaceus is a congenital hamartoma associated with several secondary tumors. We report the case of a 19-year-old woman who presented with changes in a nevus sebaceus lesion on her parietal scalp, which was subsequently excised. Upon pathological examination, both basaloid hamartoma and syringocystadenoma papilliferum were noted within the specimen, which is rare. The primary treatment modalities for nevus sebaceus are either close clinical observation or surgical excision, but no definitive consensus exists on the excision timeline of nevus sebaceus.

Nevus sebaceus of Jadassohn - high frequency ultrasound imaging and videodermoscopy examination. Case presentation.

Nevus sebaceus of Jadassohn (NSJ) is a congenital cutaneous hamartoma mainly developing from pilosebaceous unit cells. NSJ has the potential to develop into a variety of benign and malignant tumors, which are not limited to sebaceous differentiation. The dynamical monitoring for the earliest malignant transformation is necessary. Herein, we report the combined noninvasive NSJ examination with videodermoscopy in polarized and non-polarized light and high-frequency ultrasound (HFUS) imaging at 33 and 50 MHz. Typical NSJ dermoscopic signs where described, the internal nevus structure and its location, depths, and margins with surrounded tissues were examined with high-frequency ultrasound. Some HFUS characteristics for NSJ were described. Videodermoscopy and high-frequency ultrasound combined examination could be useful for NSJ dynamical monitoring in order to detect malignant transformation and to define necessary and sufficient tissue excision volume in case of surgical treatment.