Skin Appendage Tumors Research Articles

Histopathological analysis of skin adnexal tumors: An experience at a tertiary center.

Skin appendage tumors (SATs) are benign and malignant neoplasms. Although there are many studies on their clinical features and epidemiology in the literature, most of these studies have a small number of patients and are not classified according to the WHO 2018 classification. This study aimed to reveal the clinical and histopathological features of the SATs and compare the pre-diagnosis. Cases diagnosed with SATs in the last 7 years in the Pathology Department were re-evaluated according to the WHO 2018 classification. Patients' ages and genders, as well as the location and pre-diagnosis of the lesion, were all recorded. A total of 437 patients, 198 (45.3%) male and 239 (54.7%) female, were included in the study. Of 437 patients, 399 (91.3%) were diagnosed with benign SATs and 38 (8.7%) were diagnosed with malignant SATs. Most of the cases were benign tumors with follicular differentiation. Malignant SATs were seen in patients significantly older than benign ones. The majority of SATs were in head and neck localization. Mammary Paget's disease was the most common malignant SAT (n = 14, 36.8% of patients diagnosed with malignant SATs). It was noted that clinicians were less likely to consider a specific diagnosis of SAT before excision. SAT, a diagnosis that can be seen at any age and is difficult to predict clinically, may be malignant, especially in elderly patients. Histopathology is the gold standard in diagnosing SATs, and immunohistochemical staining may be useful in diagnosing tumors with uncertain histopathological features.

Childhood pilomatrixoma mimicking malignant small round blue cell tumor with positivity for CD99: Potential pitfall in cytology.

Pilomatrixoma is a relatively rare benign skin appendageal tumor, often presenting in the pediatric age group as a nodular lesion and most commonly involving the head and neck, making it amenable to primary fine needle aspiration (FNA) diagnosis. We report the clinical and histopathological findings of two cases of pilomatrixoma in children, both of which were initially misdiagnosed as small round blue cell tumors due to high cellularity and misinterpretation of the proliferating basaloid cells. Histopathology revealed basal cell proliferation and mitoses indicating that they were progressive, early lesions. The first case showed membranous positivity for CD99 which prompted a diagnosis of Ewing sarcoma. Awareness of the morphological spectrum including positivity for CD99 and careful evaluation of cell block histology could have averted the misdiagnosis. Pilomatrixoma should be included as an important differential diagnosis when faced with primitive-appearing cells on FNA, especially in children with mass lesions in the head and neck region.

Implantation Mycoses and Invasive Fungal Infections with Cutaneous Involvement in Tropical Taiwan: An 11-Year Retrospective Study of a Medical Center

The rising incidence of implantation mycoses and invasive fungal infections prompts the need for studies describing the latest trends of these diseases; however, the literature remains scarce from tropical Asia in recent years. We shared our 11-year clinical experience at a tertiary center in Southern Taiwan to improve physicians' understanding of the diseases, which could help them assume appropriate management strategies. Forty cases of pathology-proven cases of implantation mycoses and invasive fungal infections with cutaneous involvement were retrospectively reviewed. The epidemiology, patients' characteristics, initial clinical impressions, fungal species, management, and outcomes were compared and reported. Fonsecaea sp. was the most commonly (14%) involved species in implantation mycoses. The percentages of immunocompromised patients with implantation mycoses and invasive fungal infections were 26% and 60%, respectively. Additionally, 46% of patients with implantation mycoses had type 2 diabetes mellitus. The lesions were commonly mistaken for skin appendage tumors, skin cancers, and hyperkeratotic dermatoses. The prognosis was favorable for the implantation mycoses (83% showed clinical improvement) but bleak for the invasive fungal infections (100% mortality). Presentations of implantation mycoses and invasive fungal infections vary widely, and immunocompromised status and diabetes mellitus are important associated factors.

Large benign chondroid syringoma of the lower limb-an uncommon presentation of a rare disease

Chondroid syringoma (CS) is a sporadic skin appendage tumor that manifests as slow-growing, subcutaneous, non-tender, non-ulcerating dermal nodules, most often in the head and neck. The tumor is more common in men, has a biphasic age distribution, and usually attains a size of 0.5 to 3 cm. Larger lesions up to 9 cm in size have been recorded in the literature, with the majority of them containing malignancies. Rare cases of malignant CS have been described, with local recurrence and metastasis. We report a case of an 85-year-old man presenting with complaints of a significantly large swelling in the inner aspect of his right thigh for the past 25 years. Clinical and radiological differential diagnoses of a large uncomplicated dermoid cyst, sebaceous cyst, epidermal inclusion cysts, neurogenic tumours, or myxoid tumours with cystic degeneration were suggested. Under general anaesthesia, the lesion was completely excised with a 1 cm margin of healthy surrounding tissue. The histopathological examination of the complete surgical specimen was consistent with CS. Patient has been on regular follow-up and has shown excellent response to treatment, with no evidence of recurrence, metastasis, or disfigurement. With this paper, we report a case of benign CS in an unusual location, attaining a huge size (>10 cm) and, even then, not turning malignant. We hope to add to the current knowledge on CS, allowing for early and accurate diagnosis and successful disease management.

Skin appendageal tumors: A 1 year data from a tertiary care institute.

Skin appendageal tumors (SAT) are a rare group of tumors that are classified according to their line of appendageal differentiation along eccrine, apocrine, follicular, and sebaceous lines. However, they are relatively uncommon and create diagnostic difficulties for the pathologist. Recognition of malignant transformation adds to the importance of an accurate diagnosis. A paucity of clinicopathological data from the Himalayan region of India, in particular, prompted the conduct of this study. To study the clinical and histopathological spectrum of SAT during a period of 1 year received at our hospital. A retrospective study was carried out at the Pathology department of our hospital. All relevant clinical characteristics were noted in addition to the histopathological features. Slides stained with both hematoxylin and eosin and special stains where necessary were used to supplement the diagnoses. A total of 17 cases were diagnosed in 1 year (January 2021 to December 2021) at our institute. The predominant age group was 40-59 years. Females outnumbered males, with a male: female ratio of 0.8:1. The most common location of tumors was in the head and neck (90.90%). The majority of cases were benign (90.90%). The majority of tumors were of follicular differentiation (54.55%). We found one malignant tumor of sebaceous differentiation. The clinical presentation is remarkably similar to most SAT. In our study, we found that majority of tumors were benign and located in the head and neck. The importance of an accurate histopathological diagnosis is essential in these tumors to diagnose the malignant counterparts and differentiate them from more common skin tumors with different prognoses.

HISTOPATHOLOGICAL SPECTRUM OF SKIN APPENDAGEAL TUMORS AND TUMOR LIKE LESIONS

Introduction: The skin appendageal tumors are large group of neoplasm that originates from multipotential stem cells. They exhibit morphologic differentiation towards one of the four primary adnexal structures. To study the histopat Aim: hological spectrum of skin appendageal tumors and tumor like lesions. Our study is partly retrospective and prospective. All hist Materials And Methods: opathologically diagnosed skin appendageal lesions were reviewed and results were tabulated. 56 cases of Results: skin appendageal lesions were diagnosed during the study period. Predominant lesions were neoplastic (89.28%) while remaining were tumor like lesions(10.72%). The large variety of tumors were benign (66.07%) in nature. The most common line of differentiation was towards sweat gland, followed by hair follicle and sebaceous differentiation with 25(44.64%), 18(32.14%) and 13(23.22%) cases respectively. The skin appendageal tumors are the rare a Conclusion: nd most clinically misdiagnosed neoplasms, thus diagnosis relies on histological evaluation.

Evaluation of Geriatric Patients Admitted to the Dermatology Outpatient Clinic for Treatment of Facial Dermatosis: A Retrospective Study

Purpose: Skin is the human body’s largest organ, and it has essential social, sexual, and psychological roles. Especially the effect of this fact on visible body parts such as the face is obvious. The elderly population is increasing all over the world, and medical treatment for these senior citizens’ dermatological complaints is more frequent in Turkey as elsewhere. The aim of this study is to report the age group, gender distribution and dermatological diseases of the geriatric population admitted to our dermatology outpatient clinic, which is a tertiary referral center for any facial skin complaint. Methods: This retrospective study included 302 patients aged 65 and over with facial skin complaints. The age, disease frequency, gender and localization distribution of the patients were examined. SPSS package program was used for data analysis. Results: There was a significant difference between the diagnoses groups of the participants in terms of gender and age groups. The most common facial dermatoses in this population examined were basal cell carcinoma (BCC), actinic keratosis (AK), seborrheic keratosis (SK), rosacea, urticaria, and benign skin and skin appendage tumors. Conclusion: As the geriatric population is increasing all over the world, recognition of skin diseases is becoming increasingly important. Facial dermatoses are especially a concern because of how they affect the appearance and expression of persons in this age group.

176 Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

Brooke-Spiegler syndrome (BSS; OMIM 605041) is a rare monogenic skin disease characterized by the development of skin appendage tumors caused by mutations in the cylindromatosis (CYLD) gene. Despite the described phenotypes and reports of the underlying CYLD mutations, it has been difficult to establish genotype–phenotype correlations in BSS. We recently investigated two BSS pedigrees (Hungarian with Bukovinian origin and Anglo-Saxon), in which the affected family members exhibit striking differences in their phenotypes — despite carrying the same disease-causing mutation (c.2806C>T, p.Arg936Ter) of the CYLD gene.

Histopathological Study of Epithelial, Melanocytic And Adnexal Tumors Of Skin- A Retrospective Study In A Tertiary Care Centre

Background and objectives: To classify and identify various skin tumors and study their variations according to age and sex. The most common predisposing factors being fair skin, sun exposure, chemical exposure, HPV infection in the setting of immunosuppression.
 Methods: This was an observational study carried out in the Department of Pathology at private Medical College of coastal Andhra from July 2018 to June 2020.
 Result: The present study included histopathological study of 71 cases of tumors of skin and its adnexae over a period of two years. Out of the 71 tumors, 43 were diagnosed as benign and 28 as malignant tumors of skin constituting 61% and 39% respectively. The ratio of benign to malignant tumors was 1:0.63. Among the 43 benign tumors 20 (46.5%) were tumors of skin appendages, 15 (34.9%) were tumors of epidermis, 8 (18.6%) were of melanocytic origin. Among the 28 malignant tumors 25 (89.3%) were tumors of epidermis, 2 (7.1%) were melanocytic tumors and 1 (3.6%) was tumor of skin appendages. Among the malignant epidermal tumors squamous cell carcinoma was the most common constituting 42.9% (12 cases).
 Conclusion: The present study concludes that benign tumors are most common when compared to malignant tumors of skin. Among the malignant tumors, Squamous cell carcinoma falls as the most common variety of skin followed by Basal cell carcinoma and verrucous carcinoma. Among the benign tumors, tumors of epidermal origin are most frequent followed by tumors of sweat gland and adnexal-hair follicle origin.

Perforating Pilomatrixoma of The Male Breast, A Rare Lesion Simulating Breast Cancer: A Case Report

Pilomatrixoma is a rare benign skin appendage tumor of hair matrix origin. It is commonly seen in the first two decades of life, most often presenting on the face, neck or upper extremities. Pilomatrixoma of the breast is uncommon, and can mimic breast malignancy. Male breast Pilomatrixomas an extremely rare entity with only 9 cases reported in English literature. We report a rare presentation of perforating Pilomatrixoma of the breast in a male patient aged 35 years.

Magnetic Resonance Imaging Characteristics of Poroma and Porocarcinoma.

The purpose of this study was to evaluate magnetic resonance (MR) imaging findings of poroma and porocarcinoma. Six patients (3 male, 3 female; age range, 40-84 years; mean age, 61 years) with histologically confirmed skin appendage tumors with apocrine and eccrine differentiation (2 poromas and 4 porocarcinomas) were enrolled. All patients underwent preoperative MR imaging and the MR images were retrospectively reviewed. The configurations were classified as pedunculated solid in 5 lesions and subcutaneous cystic with mural nodules in 1. Well-demarcated deep tumor margins and smooth skin surfaces were observed in all 6 lesions, and peritumoral fat stranding was observed in 2. In all 5 pedunculated solid lesions, T2-hyperintense foci, T1 hyperintensity, and homogeneous solid components were observed within the lesions. Poroma and porocarcinoma usually exhibited pedunculated solid homogeneous lesion. Intratumoral T2-hyperintense foci and T1 hyperintensity were observed in pedunculated solid lesions.

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.

Brooke-Spiegler syndrome (BSS, OMIM 605041) is a rare monogenic skin disease characterized by the development of skin appendage tumors caused by mutations in the cylindromatosis gene. We recently investigated a Hungarian and an Anglo-Saxon pedigrees affected by Brooke-Spiegler syndrome. Despite carrying the same disease-causing mutation (c.2806C>T, p.Arg936X) of the cylindromatosis (CYLD) gene, the affected family members of the two pedigrees exhibit striking differences in their phenotypes. To identify phenotype-modifying genetic factors, whole exome sequencing was performed and the data from the Hungarian and Anglo-Saxon BSS patients were compared. Three putative phenotype-modifying genetic variants were identified: the rs1053023 SNP of the signal transducer and activator of transcription 3 (STAT3) gene, the rs1131877 SNP of the tumor necrosis factor receptor-associated factor 3 (TRAF3) gene and the rs202122812 SNP of the neighbour of BRCA1 gene 1 (NBR1) gene. Our study contributes to the accumulating evidence for the clinical importance of phenotype-modifying genetic factors, which are potentially important for the elucidation of disease prognosis.

Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal–Regulated Kinase1/2 Cascade and TRPV6

Pilomatricoma, a benign skin appendage tumor, also known as calcifying epithelioma, consists of islands of epithelial cells histologically that contain anucleated cells in the center surrounded by basophilic cells and partial calcification. Sporadic pilomatricomas commonly have somatic mutations in the gene CTNNB1, but causative genes from germline and the underlying pathophysiology are unclear. In this study, we identified a germline missense variant of PLCD1 encoding PLCδ1, c.1186G>A (p.Glu396Lys), in a large Chinese family with autosomal dominant multiple pilomatricomas. Phospholipase C, a key enzyme playing critical roles in intracellular signal transduction, is essential for epidermal barrier integrity. The p.Glu396Lys variant increased the enzymatic activity of PLCδ1, leading to protein kinase C/protein kinase D/extracellular signal-regulated kinase1/2 pathway activation and TPRV6 channel closure, which not only resulted in excessive proliferation of keratinocytes invitro and invivo but also induced local accumulation of calcium in the pilomatricoma-like tumor that developed spontaneously in the skin of Plcd1E396K/E396K mice. Our results implicate this p.Glu396Lys variant of PLCD1 from germline leading to gain-of-function of PLCδ1 as a causative genetic defect in familial multiple pilomatricomas.

Basal Cell Carcinoma in the Middle Ear: A Case Report and Literature Review

Although basal cell carcinoma (BCC) often occurs in the head and neck region, BCC in the middle ear is extremely rare. As far as we could determine, only five cases of BCC in the middle ear have been reported previously in the literature. We present the case of a 54-year-old Japanese man with BCC in the middle ear. Preoperative histopathologic examination indicated the possibility of skin appendage tumor. Mastoidectomy and extirpation of the lesion were performed, and the resected tumor was finally diagnosed as BCC. Four months after the initial surgery, the patient had local recurrence and reoperation, and postoperative radiotherapy was given. The patient had repeat local recurrence in the parapharyngeal space 3 years and 2 months following postoperative radiotherapy. The patient did not respond to two courses of chemotherapy with cisplatin and 5-fluorouracil, and eventually died of the primary disease 4 years and 7 months after the initial surgical treatment. We reviewed the five cases previously reported in the literature concerning BCC in the middle ear. More case reports concerning BCC in the middle ear are needed to determine its appropriate management.

Benign chondroid syringoma of foot: a clinical dilemma

Chondroid syringoma is a rare skin appendageal tumor which is most commonly encountered in the head and neck region We herein report an unusual case of a benign chondroid syringoma of the left foot in a year old female which posed as a diagnostic conundrum The approach to such a case differential diagnosis and the management of this rare entity is also presented

A rare case of Brooke–Spiegler syndrome

Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant inherited disorder characterized by multiple skin appendageal tumors. The predominant tumors can be a cylindroma, trichoepithelioma, and/or spiradenoma. Here we report this rare entity of Brooke–Spiegler syndrome in a 50 year old female on the basis of clinico-histopathological correlation. The gene responsible for this condition is cylindromatosis gene (CYLD1) which has been mapped on chromosome 16q12–q13. However, no mutation have been detected in CYLD gene analyzed in our patient which indicates lack of genotype–phenotype correlation in this patient.

Clinical and histopathological profile of benign appendageal tumours of skin: a descriptive study from Andhra Pradesh

<p class="abstract"><strong>Background:</strong> Skin adnexal tumors are those neoplasms that arise from pilosebaceous units, eccrine sweat glands or apocrine sweat glands. Vast majority of appendageal tumors are benign and most of the benign skin adnexal tumors are asymptomatic papules or nodules and often difficult to diagnose clinically. The objective of the study was to study the clinical and histological features suggestive of benign skin appendageal tumors.</p><p class="abstract"><strong>Methods:</strong> This is a descriptive observational study conducted among 50 patients presenting with clinical features suggestive of benign skin appendageal tumors attending at outpatient department of DVL, Kurnool medical college/ GGH, Kurnool between January 2016 to June 2017.<strong></strong></p><p class="abstract"><strong>Results:</strong> The highest age incidence was in the age group of 21-30 years- 24 cases (48%). The commonest tumors in this study were eccrine gland tumors i.e 43 cases (86%). Syringomas were the commonest tumors (38 cases, 76%). Commonest presenting lesion was papule (82%). Commonest site is face (94%).</p><p class="abstract"><strong>Conclusions:</strong> The commonest tumors recorded were eccrine gland tumors (86%). Syringomas constitute the largest group (76%) followed by trichoepitheliomas (6%). The highest age incidences was in 3<sup>rd</sup> decade (48%), followed by 4<sup>th</sup> decade (42%).</p>

305 Putative phenotype modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

Brooke-Spiegler syndrome (BSS; OMIM 605041) is a rare monogenic skin disease characterized by the development of skin appendage tumors caused by mutations in the cylindromatosis gene (CYLD). Concerning the so far reported phenotypes and the underlying CYLD mutations, it is difficult to establish genotype-phenotype correlations in BSS. We have recently investigated a Hungarian family (with Bukovinian origin) and an Anglo-Saxon BSS pedigree, in whom the affected family members - despite of carrying the same disease-causing mutation (c.2806C>T, p.Arg936X) of the CYLD gene - show striking differences in their phenotypes. The aim of our study was to identify phenotype modifier genetic factors, which could help the understanding of genotype-phenotype correlations in BSS. Comparing the WES data of the Hungarian and Anglo-Saxon BSS patients, here we have identified three putative phenotype modifying genetic variants: the rs1053023 SNP of the signal transducer and activator of transcription 3 (STAT3) gene, the rs1131877 SNP of the tumor necrosis factor receptor-associated factor 3 (TRAF3) gene and the rs202122812 SNP of the neighbor of BRCA1 gene 1 (NBR1) gene. Our study contributes to the accumulating evidence describing the clinical importance of genetic phenotype modifying factors, which have high potential in the elucidation of genotype-phenotype correlations and disease prognosis.

CENPV Is a CYLD-Interacting Molecule Regulating Ciliary Acetylated α-Tubulin

CYLD is a deubiquitylase with tumor suppressor functions, first identified in patients with familial cylindromatosis. Despite many molecular mechanisms in which a function of CYLD was reported, affected patients only develop skin appendage tumors, and their precise pathogenesis remains enigmatic. To elucidate how CYLD contributes to tumor formation, we aimed to identify molecular partners in keratinocytes. By using yeast two-hybrid, coprecipitation, and proximity ligation experiments, we identified CENPV as a CYLD-interacting partner. CENPV, a constituent of mitotic chromosomes associating with cytoplasmic microtubules, interacts with CYLD through the region between the third cytoskeleton-associated protein-glycine domain and the active site. CENPV is deubiquitylated by CYLD and localizes in interphase to primary cilia where it increases the ciliary levels of acetylated α-tubulin. CENPV is overexpressed in basal cell carcinoma. Our results support the notion that centromeric proteins have functions in ciliogenesis.

Expression of Potential Dermal Progenitor Cell Markers in the Tumour and Stroma of Skin Adnexal Malignant and Benign Tumours.

Stem cells are multipotent cells that maintain the skin epidermis including skin appendages such as hair follicle, sebaceous glands, and sweat glands. There is evidence that reciprocal signalling between the epidermis and the dermis plays an important role in skin development, homeostasis, wound repair, and skin cancer. The origin of skin cancer that derive from skin appendages is still controversial, including basal cell carcinoma and even more of rare tumours such as sebaceous carcinomas and whether those tumours originate from resident tissue stem cells. To investigate whether markers reported to label dermal progenitor cells are preserved in the tumour including the tumour stroma of skin adnexal tumours, we tested 45 human basal cell carcinomas, including superficial, nodular, adenoid, infiltrating, and sclerosing types, and further 38 human tumours of skin appendages including 13 sebaceous adenomas and carcinomas, 20 eccrine sweat gland tumours, and 5 pilomatricomas, syringomas, and hair follicle tumours for the expression of the potential dermal and epidermal cell markers CRABP1, Nestin, and Ephrin B2 and compared these findings with healthy, age-related human epidermis. We detected that CRABP1, Nestin, and Ephrin B2 are expressed in the intratumoural stroma as well as the tumour invasive front of skin tumours of appendages and BCCs.