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      Clinical and Pathological Features of Pilomatrixoma in Children: A Retrospective Study

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          Abstract

          Introduction: Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children. Methods: Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women’s and Children’s Hospital were collected and analyzed retrospectively. Results: The mean age of the patients was 5.7 (standard deviation [SD] = 3.9) years old, and there were 2 age peaks (≤1 year old, 5–11 years old) and 2 age valleys (2–4 years old, ≥12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients’ disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume was 0.6 (SD = 1.0) cm 3, and 81.3% of the patients’ tumor volume ≤1.0 cm 3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients ( p > 0.05). The age and tumor volume of the patients in different body parts were significantly different ( P 1 = 3.10E−05 and P 2 = 5.60E−05, respectively). The correlation between the disease course and tumor volume was positively significant ( p ≤ 0.05). There was a significant correlation between the disease course and tumor volume in patients with tumors at upper limbs ( p = 0.03). Conclusion: The age of children with pilomatrixoma presented 2 peaks and 2 valleys. Most patients had disease courses in 24 months and with tumor volumes ≤1.0 cm 3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck were the most common distribution sites of pilomatrixoma, and shadow cells and basaloid cells were the most common pathological features. The tumor volume was positively correlated with disease course in patients with pilomatrixoma.

          Plain Language Summary

          Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. Fu et al. conducted a retrospective study at Shenzhen Baoan Women’s and Children’s Hospital. One hundred and seventy-one children with pilomatrixoma were included. There were 2 age peaks (≤1 year old, 5–11 years old) and 2 age valleys (2–4 years old, ≥12 years old). The mean disease course was 9.34 months, 69.0%, 86.5%, and 95.3% of the patients’ disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume was 0.6 cm 3, and 81.3% of patients’ tumor volume ≤1 cm 3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The pathological features of pilomatrixoma were shadow cells (99.4%), basaloid cells (94.7%), calcification (39.8%), multinuclear giant cell aggregation (35.7%), inflammatory cell infiltration (33.9%), histiocytic hyperplasia (5.3%), and ossification (1.2%). There were no significant differences in age, disease course, or tumor volume between the male and female patients ( p > 0.05). The age and tumor volume of the patients in different body parts were significantly different ( P 1 = 3.10E−05 and P 2 = 5.60E−05, respectively). The correlation between the disease course and tumor volume was positively significant ( p ≤ 0.05). There was a significant correlation between the disease course and tumor volume in patients with tumors at upper limbs ( p = 0.03).

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          Most cited references25

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          Micro-Raman spectroscopy used to identify and grade human skin pilomatrixoma.

          Raman microspectroscopy was applied to analyze the changes in structural conformation and chemical composition of the mass of human skin pilomatrixoma (PMX). The normal skin dermis, collagen type I, and hydroxyapatite (HA) were used as control. The excised specimens from two patients diagnosed as a typical PMX were detected, in which one specimen was a soft mass, but the other was a hard mass with somewhat calcified deposits via histopathological examination. The Raman spectrum of normal skin dermis was found to be similar to the Raman spectrum of collagen type I, confirming that the collagen type I was a predominant component in normal skin dermis. The differences of Raman peak intensity between normal skin dermis and soft or hard PMX mass were obvious at 1,622-1,558, 1,400-1,230, 1,128, 1,000-850, 749, and 509 cm(-1). In particular, the peak at 1,665 cm(-1) assigned to amide I band shifted to 1,655 cm(-1) and the peak at 1,246 cm(-1) corresponding to amide III band was reduced in its intensity in hard PMX mass. The significant changes in collagen content and its structural conformation, the higher content of tryptophan, and disulfide formation in PMX masses were markedly evidenced. In addition, the shoulder and weak peak at 960 cm(-1) assigned to the stretching vibration of PO(4) (3-) of HA also appeared respectively in the Raman spectra of soft and hard PMX masses, suggesting the occurrence of calcification of HA in the PMX tissue, particularly in the hard PMX mass. The result indicates that the micro-Raman spectroscopy may provide a highly sensitive and specific method for identifying normal skin dermis and how it differs in chemical composition from different PMX tissues. Copyright 2005 Wiley-Liss, Inc.
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            Pilomatrixoma: a review of 346 cases.

            Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a benign skin neoplasm that arises from hair follicle matrix cells. Pilomatrixoma is a common skin neoplasm in the pediatric population that is often misdiagnosed as other skin conditions. This study reviews an 11-year experience at a tertiary children's hospital, examining the cause, clinical and histopathological presentation, management, and treatment outcomes of pilomatrixoma. A review of the pathology database at Children's Hospital Los Angeles revealed 346 pilomatrixomas excised from 336 patients between 1991 and 2001. The hospital charts, pathology records, and plastic surgery clinic charts were reviewed with respect to variables such as sex, age at the time of presentation, clinical and histopathological presentation, preoperative diagnosis, management, recurrence, and treatment outcome. The main presenting symptom was a hard, subcutaneous, slowly growing mass. The preoperative diagnosis was accurate and consistent with the pathological diagnosis of pilomatrixoma in only 100 cases (28.9 percent). This entity should be considered with other benign or malignant conditions in the clinical differential diagnosis of solitary firm skin nodules, especially those on the head, neck, or upper limbs. The diagnosis can generally be made with a clinical examination. Imaging studies are not required unless symptoms or the location of the lesion warrants such diagnostic assessments. The treatment of choice is surgical excision, and the recurrence rate is low.
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              Beta-catenin expression in benign and malignant pilomatrix neoplasms.

              Beta-catenin is a 92-kDa protein, initially identified as a coprecipitating species with the E-cadherin cell-cell adhesive complex. It plays a role in signal transduction in the Wnt signalling pathway and has been identified as an oncogene in colon cancer and melanoma. Exon 3 beta-catenin-activating mutations were found in 75% of cases of pilomatricoma (PM). Previous studies have shown that nuclear and/or cytoplasmic staining may correlate with beta-catenin gene mutation. Because the immunohistochemical expression of beta-catenin in the nucleus or the cytoplasm correlates with beta-catenin mutation, we studied the immunohistochemical profile of beta-catenin expression in normal scalp hair follicles and in PM and pilomatrix carcinoma (PC). We reviewed 21 cases of PM and five cases of PC using immunohistochemical staining with commercially available antibody in a standard fashion on formalin-fixed paraffin-embedded tissue samples. All 26 tumours displayed both nuclear and cytoplasmic staining in the basaloid cells with focal membranous staining. Shadow cells were negative in all tumours. Normal control sections from the scalp displayed nuclear reactivity of the matrical cells, mostly concentrated in the supramatrical zone of hair follicles. Membranous staining was present along the intercellular junctions of the epidermis and along the outer and inner root sheaths of hair follicles. We have found similar patterns of beta-catenin nuclear and cytoplasmic expression in both PM and PC. Despite the shared beta-catenin expression, the biological behaviour of PM and PC is markedly different. These two tumours probably share the activation of a common cellular pathway that could be related to their shared method of keratinization or a shared dysfunction of the cellular adhesion complex and consequently tumorigenesis. To the best of our knowledge, this is the first report on the beta-catenin immunohistochemical expression profile in PC.

                Author and article information

                Journal
                DRM
                Dermatology
                10.1159/issn.1018-8665
                Dermatology
                Dermatology
                S. Karger AG
                1018-8665
                1421-9832
                2024
                August 2024
                10 April 2024
                : 240
                : 4
                : 543-552
                Affiliations
                [a ]Department of Dermatology, Shenzhen Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, China
                [b ]Department of Dermatology, Peking University Shenzhen Hospital, Shenzhen, China
                [c ]Shenzhen Key Laboratory for Translational Medicine of Dermatology, Institute of Dermatology, Shenzhen Peking University - The Hong Kong University of Science and Technology Medical Center, Shenzhen, China
                [d ]Department of Ultrasound, Shenzhen Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, China
                [e ]Department of Pathology, Shenzhen Baoan Women’s and Children’s Hospital, Jinan University, Shenzhen, China
                [f ]Department of Dermatology and Venereology, The Second Affiliated Hospital of Anhui Medical University, Hefei, China
                Author notes
                *Jing Gao, gaojing0510@126.com
                Article
                538802 Dermatology 2024;240:543–552
                10.1159/000538802
                38599182
                05c558ce-9122-421a-9d29-83bbf6735533
                © 2024 S. Karger AG, Basel
                History
                : 05 December 2023
                : 05 April 2024
                Page count
                Figures: 3, Tables: 3, Pages: 10
                Funding
                This study was funded by the Natural Science Research Project of Colleges and Universities of Anhui Province (No. 2023AH053171), Shenzhen Sanming Project (No. SZSM201812059), and Shenzhen Key Medical Discipline Construction Fund (No. SZXK040).
                Categories
                Research Article

                Medicine
                Pilomatrixoma,Characteristics,Diagnosis,Treatment,Retrospective study
                Medicine
                Pilomatrixoma, Characteristics, Diagnosis, Treatment, Retrospective study

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