Raras
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Pilomatrixoma
ORPHA:91414CID-10 · D23.3CID-11 · 2F22OMIM 132600DOENÇA RARA

Pilomatricoma é um tumor raro e benigno derivado de células ciliadas que ocorre principalmente em adultos jovens (geralmente com menos de 20 anos) e caracterizado como um tumor solitário, indolor, firme, móvel, dérmico ou subcutâneo profundo de 3-30 mm, mais comumente encontrado na cabeça, pescoço ou extremidades superiores. Quando superficiais, os tumores tingem a pele de um vermelho azulado. Pilomatricomas múltiplos são observados na distrofia miotônica, na síndrome de Gardner, na síndrome de Rubinstein-Taybi e na síndrome de Turner.

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Introdução

O que você precisa saber de cara

📋

Pilomatricoma é um tumor raro e benigno derivado de células ciliadas que ocorre principalmente em adultos jovens (geralmente com menos de 20 anos) e caracterizado como um tumor solitário, indolor, firme, móvel, dérmico ou subcutâneo profundo de 3-30 mm, mais comumente encontrado na cabeça, pescoço ou extremidades superiores. Quando superficiais, os tumores tingem a pele de um vermelho azulado. Pilomatricomas múltiplos são observados na distrofia miotônica, na síndrome de Gardner, na síndrome de Rubinstein-Taybi e na síndrome de Turner.

Publicações científicas
574 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adolescent
+ adult, childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D23.3
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
1 sintomas
❤️
Coração
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

100%prev.
Pilomatrixoma
90%prev.
Nódulo subcutâneo
Muito frequente (99-80%)
90%prev.
Neoplasia de cabeça e pescoço
Muito frequente (99-80%)
17%prev.
Calcificação ectópica
Ocasional (29-5%)
3%prev.
Prurido
Raro (<5%)
3%prev.
Positividade do anticorpo anti-mieloperoxidase
Raro (<5%)
7sintomas
Muito frequente (3)
Ocasional (1)
Muito raro (2)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.

Pilomatrixoma
Muito frequente100%
Nódulo subcutâneoSubcutaneous nodule
Muito frequente (99-80%)90%
Neoplasia de cabeça e pescoçoNeoplasm of head and neck
Muito frequente (99-80%)90%
Calcificação ectópicaEctopic calcification
Ocasional (29-5%)17%
PruridoPruritus
Raro (<5%)3%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico574PubMed
Últimos 10 anos200publicações
Pico202347 papers
Linha do tempo
2026Hoje · 2026🧪 2008Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

CTNNB1Catenin beta-1Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (10)
Formation of the nephric ductSpecification of the neural plate borderSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)TCF dependent signaling in response to WNTTranscriptional Regulation by VENTX
MECANISMO DE DOENÇA

Colorectal cancer

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
297.5 TPM
Cervix Ectocervix
257.8 TPM
Artéria tibial
233.5 TPM
Ovário
201.9 TPM
Cérebro - Hemisfério cerebelar
201.3 TPM
OUTRAS DOENÇAS (17)
hepatocellular carcinomasevere intellectual disability-progressive spastic diplegia syndromeovarian cancerpilomatrixoma
HGNC:2514UniProt:P35222

Variantes genéticas (ClinVar)

349 variantes patogênicas registradas no ClinVar.

🧬 CTNNB1: NM_001904.4(CTNNB1):c.1273del (p.Ser425fs) ()
🧬 CTNNB1: NM_001904.4(CTNNB1):c.701_704dup (p.Gly236fs) ()
🧬 CTNNB1: NM_001904.4(CTNNB1):c.1838T>G (p.Val613Gly) ()
🧬 CTNNB1: NM_001904.4(CTNNB1):c.955_974del (p.Gly319fs) ()
🧬 CTNNB1: GRCh37/hg19 3p26.3-14.3(chr3:2263690-55016039)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 31 variantes classificadas pelo ClinVar.

22
3
6
Patogênica (71.0%)
VUS (9.7%)
Benigna (19.4%)
VARIANTES MAIS SIGNIFICATIVAS
CTNNB1: NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) [Pathogenic]
CTNNB1: NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) [Pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.305-1G>C [Pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) [Pathogenic/Likely pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) [Conflicting classifications of pathogenicity]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Pilomatrixoma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

2 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
211 papers (10 anos)
#1

Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study.

Health science reports2026 Feb

A retrospective analysis was conducted on the clinical, pathological, and imaging features of 471 cases of pilomatrixoma, aiming to enhance clinicians' understanding of pilomatrixoma. A total of 471 cases of pilomatrixoma diagnosed and surgically treated in the Affiliated Hospital of Southwest Medical University from August 1999 to July 2024 were retrospectively analyzed. Some cases were also diagnosed through preoperative fine needle aspiration, as well as ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI). Of these 471 patients, 224 (47.6%) were male, and 247 (52.4%) were female. Their ages ranged from 8 months to 90 years, with an average age of 18.2 years. The highest incidence of pilomatrixoma was observed in patients aged between 0 and 10 years, accounting for 46.5% (219/471). The most common site of pilomatrixoma is the face, followed by the neck. The most common area of the face is the parotid gland region, accounting for 24.8% (61/246) of facial cases. Histology and cytopathology revealed that the tumor cells usually consisted of basaloid cells and eosinophilic shadow cells, and inflammatory cells, foreign body giant cells, and calcifications were seen. Additionally, the ultrasonography showed a mass with calcification, a strong echo band, and parenchyma without calcification. The pilomatrixoma should be considered when the tumor presents as soft-tissue density with varying degrees of calcification, well-defined oval or circular nodules on CT, and characteristic reticular and annular hypersignal on T2WI and T2WI + FS on MRI. Pilomatrixoma is commonly found on the face and neck of adolescent females. Cytopathology, ultrasound, and imaging features can provide clinical clues, and histopathology can make the final diagnosis. Complete surgical resection is the preferred treatment.

#2

Giant pilomatrixoma of the scapular region in a child.

BMJ case reports2026 Jan 07

Pilomatrixoma is a benign adnexal tumour characterised by pathological hair matrix differentiation and is most commonly observed in children. It typically presents as a slow-growing, pink to purplish dermal nodule. Due to its low clinical diagnostic accuracy, pilomatrixoma is often misidentified as other tumours. This case highlights an atypical presentation of pilomatrixoma in a girl in early adolescence and underlines the importance of considering ultrasonography or proceeding directly to surgical excision for definitive diagnosis.

#3

Approach and nomenclature problems of extracutaneous basaloid neoplasias of visceral organs with three cases of basaloid carcinoma described for the first time in the urinary bladder.

Histology and histopathology2026 Mar 02

Pure basal cell carcinomas/basaloid carcinomas (BCC/BC) from only basal cells in the urinary bladder have not been reported so far. Our aim in this study was to present three BC cases showing distinct pilomatrixoma-like keratinization (matrixial) and sebaceous differentiation in the bladder in transurethral resection material, without urothelial and squamous carcinoma components, and to discuss the concept of BCC/BC in visceral organs. In three cases, it invaded the muscularis propria. Immunohistochemically, Keratin-7 and EMA were almost completely negative, while GATA3 was positive in very few cells. p63, keratin-5,6 and bcl2 were positive in all three tumors. Adipophilin was positive in areas of sebaceous differentiation. BCC/BC are very rare in visceral organs and had different nomenclatures. These show different patterns and variants, and have different nomenclature depending on the histological diversity/embryological development of the organ in which they are localized. We also noticed that adenoid cystic carcinoma and basaloid carcinoma have similar histology and are transitional to each other in many organs, necessitating a common nomenclature.

#4

Diagnostic challenges of giant cervical pilomatrixoma mimicking malignancy: case report and focused literature review.

Frontiers in medicine2026

Pilomatrixoma is a benign skin adnexal tumor arising from the hair-follicle matrix. While typically small and slowly growing, rare "giant" variants (>5 cm)-especially in the cervical region-may clinically and radiologically mimic malignant masses, posing a significant diagnostic challenge. We report a case of a 29-year-old male presenting with a solitary, firm, subcutaneous mass (~6 cm) in the left anterior cervical region, which enlarged rapidly over 6 months without pain or systemic symptoms. Contrast-enhanced CT revealed a well-defined, heterogeneous subcutaneous lesion without muscular or vascular invasion. Core needle biopsy (CNB) supported a diagnosis of pilomatrixoma. The mass was completely excised under IV sedation and local anesthesia. Histopathology confirmed classic pilomatrixoma features (basaloid cells, shadow cells, foreign-body giant cell reaction). At one-year follow-up the patient was disease-free, and scar outcome was excellent. This case underscores the importance of including giant pilomatrixoma in the differential diagnosis of large cervical soft-tissue masses. Histopathological examination remains essential for definitive diagnosis, while CNB can guide preoperative planning. Complete surgical excision yields excellent outcomes with minimal morbidity, avoiding overtreatment for suspected malignancy.

#5

Basal Cell Carcinoma With Matrical Differentiation Case Report and Review of Management.

Cureus2026 Jan

Basal cell carcinoma with matrical differentiation (BCCMD) is a rare subtype of basal cell carcinoma (BCC), with only about 43 cases described in the literature. It is characterized by typical BCC morphology, including basaloid cell aggregates with peripheral palisading, along with areas of matrical differentiation containing shadow cells, trichohyalin granules, and corneocytes. Immunohistochemically, the basaloid component expresses BerEP4, while the matrical component often shows diminished BerEP4 and positive β-catenin and epithelial membrane antigen staining. BerEP4 represents an immunohistochemical marker that highlights basaloid cells and is commonly used to aid in identifying basal cell carcinoma and distinguishing it from other skin tumors. A 79-year-old man presented with a new 9-mm pearly papule on the right forehead, which was diagnosed as BCCMD following histopathologic and immunohistochemical evaluation. The lesion was successfully treated with one stage of Mohs micrographic surgery, and the patient remained disease-free after nine months of follow-up. Due to overlapping histologic features with other follicular neoplasms, diagnosis is critical, and management strategies are not well established. While most cases have been treated with standard excision, Mohs surgery may offer superior margin control, especially for tumors in cosmetically sensitive regions. Rare reports of metastasis suggest a potentially more aggressive clinical course than typical BCC. Comprehensive excision and long-term surveillance are recommended to optimize outcomes and further characterize this rare variant.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC387 artigos no totalmostrando 199

2026

Approach and nomenclature problems of extracutaneous basaloid neoplasias of visceral organs with three cases of basaloid carcinoma described for the first time in the urinary bladder.

Histology and histopathology
2026

Diagnostic challenges of giant cervical pilomatrixoma mimicking malignancy: case report and focused literature review.

Frontiers in medicine
2026

Basal Cell Carcinoma With Matrical Differentiation Case Report and Review of Management.

Cureus
2026

Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study.

Health science reports
2026

[Rare benign tumors/lesions in the head of children].

Pathologie (Heidelberg, Germany)
2026

Granular cell tumour of non-neural origin, ALK positive: Case report and literature review.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2026

Giant pilomatrixoma of the scapular region in a child.

BMJ case reports
2025

What is the clinical utility of histological diagnosis between pilomatricoma and trichilemmal cyst in children?

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2026

Basal Cell Carcinoma With Matrical Differentiation: A Case Report and Literature Review.

International journal of surgical pathology
2025

Deceptive appearance of primary mucinous carcinoma of the eyelid: A rare case and literature review.

Romanian journal of ophthalmology
2025

Utilization of Mohs Micrographic Surgery for Benign Adnexal Tumors of the Skin: A Systematic Review.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2025

Clinical features and surgical management of pilomatrixoma in children: a 332-case retrospective study.

Pediatric surgery international
2025

Rare tumour presenting as a cystic lesion in an infant.

BMJ case reports
2026

Pilomatrix carcinoma in the lower eyelid: case report.

Orbit (Amsterdam, Netherlands)
2025

High-grade endometrioid carcinomas with pilomatrix-like features lacking CTNNB1 Mutations: Clinicopathologic characteristics and novel molecular events.

Human pathology
2025

Clinical and pathological features of 209 cases of pilomatricoma in children: a retrospective study.

Postgraduate medical journal
2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Dermatopathology (Basel, Switzerland)
2026

Pilomatrixoma in a Young Adult With Epiphora Mimicking Dacryocystitis.

Ophthalmic plastic and reconstructive surgery
2025

A case of pilomatrix carcinoma found in the shoulder.

Journal of surgical case reports
2026

Pilomatrical Carcinoma: A Case Report and Review of the Literature.

International journal of dermatology
2025

Pilomatrixoma of the Eyelid in an 83-Year-Old Woman: A Rare Case in the Elderly.

Cureus
2025

Facial Pilomatrixoma in a Child: A Rare Differential for a Soft Tissue Lesion.

Cureus
2025

Proliferating Giant Pilomatrixoma: A Case Report.

Cureus
2025

Eyelid Pilomatrixomas: A Case Report and Comprehensive Literature Review.

Cureus
2025

Earlobe Pilomatrixoma in Children: Clinical Features and Surgical Management.

The American journal of case reports
2025

Proliferating Pilomatrixoma: An Under-Recognized Entity with Review of Literature.

Indian dermatology online journal
2025

Pilomatrix-like High-grade Endometrial Carcinoma: An Underdiagnosed Entity With Aggressive Clinicopathologic Features.

The American journal of surgical pathology
2025

Pilomatrixoma: A comprehensive 32-year analysis of clinical and histopathological findings of 1235 patients treated at Mayo Clinic.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

High-grade Endometrial Endometrioid Carcinoma: A Case Report of Complete Transdifferentiation to Pilomatrix-like Carcinoma.

International journal of surgical pathology
2025

Re: "Eyebrow Pilomatrixoma Presenting With Localized Alopecia and Skin Hypopigmentation".

Ophthalmic plastic and reconstructive surgery
2025

Matrical Tumors: A Comparative Molecular Analysis of Six Cases With Histological Correlations.

The American Journal of dermatopathology
2025

Atypical giant proliferating cystic pilomatrixoma: A case review.

SAGE open medical case reports
2025

Pilomatricoma in a Patient With Chronic Low Testosterone: A Case Report and Literature Review.

Cureus
2025

Pilomatrixoma of the parotid region: A benign tumor mimicking metastatic cutaneous squamous cell carcinoma.

Radiology case reports
2025

Pediatric Pilomatrixomas: Four Atypical Clinical Presentations.

Plastic surgery (Oakville, Ont.)
2025

[Pilomatrix-like high-grade endometrioid carcinoma of the ovary: report of two cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Analysis of a case of pilomatricoma in an adolescent after receiving recombinant hepatitis B vaccine (CHO cell) in Beijing of China.

Human vaccines &amp; immunotherapeutics
2025

Pilomatrix carcinoma unveiled: a systematic review of clinical characteristics, pathogenesis, diagnostic puzzles, and management strategies.

Archives of dermatological research
2024

Pilomatrix Carcinoma of Infrequent Localization.

Skinmed
2025

Surgical treatment of pilomatrix carcinoma: a systematic review.

International journal of dermatology
2025

Cutaneous hybrid cysts with matrical differentiation are mostly sporadic and related to CTNNB1 mutation.

Virchows Archiv : an international journal of pathology
2024

Clinical and Histopathological Perspectives of Pilomatrixoma: A Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

Atypical and giant proliferating pilomatrixoma of the eyelid: a clinicopathological report.

BMC ophthalmology
2025

High-grade Endometrial Carcinomas With Solid Basaloid Morphology and Geographic Necrosis Lacking Definitive Pilomatrix-like Features: Clinicopathologic Characteristics Including Aggressive Behavior and Novel Molecular Events.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2024

Role of Immunohistochemistry in the Diagnosis of Pilomatrical Tumors.

The American journal of surgical pathology
2024

[A malignant pilomatrixoma in the tonsillar area of a dog].

Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
2025

Pilomatrix-like breast carcinoma: A mammary analog of pilomatrix-like high-grade endometrioid carcinoma (PiMHEC).

American journal of clinical pathology
2024

Clinical and epidemiological characteristics of pilomatricomas in a Mexican pediatric population.

Boletin medico del Hospital Infantil de Mexico
2024

Retrosynthetic analysis via deep learning to improve pilomatricoma diagnoses.

Computers in biology and medicine
2024

Fine-needle Aspiration Biopsy of Pilomatrixoma (Cytological Features of Six Cases Histologically Approved).

Journal of cytology
2024

A Retrospective Study of the Clinicopathological Characteristics of Approximately 1,600 Pilomatricomas Treated at a Single Institution.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2024

Pilomatrixoma of the Ankle: A Case Report.

Cureus
2024

Wnt/β-Catenin-Activated Nonpilomatrical Carcinoma of the Skin: A Case Series.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2024

Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.

Dermatology online journal
2025

Pilomatrixoma of the Periorbital Region: A Retrospective Review.

Ophthalmic plastic and reconstructive surgery
2024

Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports.

BMC pediatrics
2024

Case report: Pilomatrix carcinoma with PDL1 expression and CDKN2A aberrant.

Frontiers in immunology
2024

Giant perforating pilomatricoma with osseous metaplasia.

Anais brasileiros de dermatologia
2024

Pilomatrixomas: 31 years of experience in population under and over 18 years of age.

Boletin medico del Hospital Infantil de Mexico
2024

Pilomatricoma Located at the Identical Position in the Right Upper Limb of the Twins: A Rare Case Report.

Clinical, cosmetic and investigational dermatology
2024

Pilomatricomas: Benign lesions mimicking malignant tumors in older people.

Revista espanola de geriatria y gerontologia
2024

Metastatic pilomatrix carcinoma treated with stereotactic body radiation therapy.

JAAD case reports
2024

Pathological, histochemical, and immune-histochemical studies on some canine-skin neoplasm at Sharkia province, Egypt.

Open veterinary journal
2024

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

Dermatology (Basel, Switzerland)
2024

Post-traumatic Bullous Pilomatrixoma Exploring the Pathogenesis.

The American Journal of dermatopathology
2024

A case of AA amyloidosis complicated by proliferating pilomatricoma and a review of the literature.

The Journal of dermatology
2024

Pilomatrixoma of the Forearm in an Elderly Male.

Cureus
2024

Massive Pilomatrixoma of the Scalp: A Case Report.

Cureus
2024

Eyebrow Pilomatrixoma Presenting With Localized Alopecia and Skin Hypopigmentation.

Ophthalmic plastic and reconstructive surgery
2024

Pilomatrix Carcinoma: A Retrospective Chart Review of 17 Patients.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2024

Clinicopathological and immunohistochemical characteristics of bullous pilomatricoma: a retrospective, single-center study, and comparison with ordinary pilomatricoma.

Anais brasileiros de dermatologia
2024

Post-traumatic pilomatricoma presenting as rapidly enlarging pediatric scalp mass.

Radiology case reports
2024

Adnexal neoplasms of the eye.

Clinics in dermatology
2024

Integrating vascularity into the pattern classification of pilomatricomas on ultrasound provides a more competent approach for discriminative evaluation.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2024

Primary cutaneous mucinous carcinoma of the scalp masquerading as a benign dermatological mass - A case report.

International journal of surgery case reports
2023

Unusual presentation of pilomatricoma: A case report and comprehensive review of the literature.

Clinical case reports
2023

Development of Pilomatrixoma at the Vaccination Site: A Rare Complication of COVID-19 Vaccination - A Case Report.

The American journal of case reports
2023

Anetodermic pilomatrixomas: A case series.

Skin health and disease
2023

Strategic Approach to Heterogeneity Analysis of Cutaneous Adnexal Carcinomas Using Computational Pathology and Genomics.

JID innovations : skin science from molecules to population health
2023

Giant pilomatrix carcinoma of the scalp with intracranial extension: A case report.

Clinical case reports
2023

Pilomatrixoma of the Arm: A Case Report and Review of Literature.

Cureus
2023

A Large Mass Displaying a Malignant Character on the Forearm: A Rare Case of Upper Extremity Pilomatrixoma.

Cureus
2024

A case of lymphangiectatic variant of giant pilomatricoma with bullous appearance: evaluation through magnetic resonance imaging.

The Journal of dermatology
2023

A systematic review of Pilomatrix carcinoma arising from the previous scar site of Pilomatrixoma.

Journal of cancer research and therapeutics
2024

Cytomorphological features of syringocystadenoma papilliferum mimicking pilomatricoma at a rare location and in an unusual age group: A cytological diagnostic challenge.

Diagnostic cytopathology
2023

Diagnostic value of high-frequency ultrasound (HFUS) in evaluation of subcutaneous lesions.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2023

Multiple giant pilomatricomas of the scrotal: A rare case report from Syria.

Heliyon
2023

Spatial transcriptomics of a giant pilomatricoma.

Journal of cutaneous pathology
2024

Idiopathic Facial Aseptic Granuloma in a Healthy 3-Year-Old Girl.

The Journal of pediatrics
2023

Confused subcutaneous nodules in children: Differential diagnosis of pilomatricoma in children.

Journal of cosmetic dermatology
2023

Pilomatrixoma of the Male Breast: Case Report and Literature Review.

Oman medical journal
2023

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

Diagnostic cytopathology
2023

Rare Cutaneous Manifestations of Erdheim Chester Disease: A Case Report and Literature Review.

Cureus
2023

Atypical Melanocytic Matricoma: A Case Report with Molecular Studies.

The American Journal of dermatopathology
2023

Giant Pilomatrix Carcinoma of the Thorax: An Uncommon and Clinically Misdiagnosed Tumor.

Plastic and reconstructive surgery. Global open
2023

[Differential diagnoses of benign eyelid tumors in children and adolescents].

Die Ophthalmologie
2024

Cervical pilomatricoma: An unusual ent diagnosis.

Acta otorrinolaringologica espanola
2023

Cytological Diagnosis of Pilomatrixoma and its Diagnostic Pitfalls.

Journal of cytology
2023

A Rapidly Growing Forearm Pilomatricoma in an Elderly Patient.

Cureus
2023

Multiple Postvaccinal Pilomatrixomas in a Child.

Clinical pediatrics
2023

Dermatological findings in Rubinstein-Taybi Syndrome.

Italian journal of dermatology and venereology
2023

Hand Pilomatrixoma: A Rare Localization.

Cureus
2023

Dermoscopy of Pilomatrixoma.

Indian dermatology online journal
2023

A comparative study of pilomatricoma and epidermoid cyst with ultrasound.

Clinical radiology
2023

Early-Stage Pilomatricoma with Cystic Features: A Case Report and Literature Review.

Indian journal of dermatology
2023

Melanocytic Matricoma With Atypical Histopathological Features: A Case Report of an Extremely Rare Entity and Review of the Literature.

The American Journal of dermatopathology
2023

Giant pilomatrixoma in the infraclavicular region following an insect bite.

Journal of surgical case reports
2023

A rapidly growing pedunculated pilomatrixoma of the eyelid.

Oman journal of ophthalmology
2023

Case of Pilomatricoma After Coronavirus Disease 2019 Vaccination.

The Tokai journal of experimental and clinical medicine
2022

Pilomatricoma of the thigh: a case report.

The Pan African medical journal
2023

Proliferating pilomatricoma in a woman with Lynch Syndrome: a manifestation of mismatch repair genes alterations.

Italian journal of dermatology and venereology
2023

Diagnostic aid to subepidermal calcified nodule with dermoscopy and reflectance confocal microscopy: a case report.

BMC pediatrics
2023

A unique case of giant pilomatricoma on the buttock of a 44-year-old Hispanic female.

International journal of dermatology
2023

Imaging palpable tumors in pediatrics: Part 2.

Radiologia
2023

Pilomatrix Carcinoma-Rare Presentation of an Unusual Cutaneous Malignancy.

The Gulf journal of oncology
2023

Cytomorphological spectrum of pilomatricoma - A series of 28 cases.

Cytopathology : official journal of the British Society for Clinical Cytology
2023

Skin Lesions in Children: Evaluation of Clinicopathological Findings.

Turk patoloji dergisi
2023

Periocular pilomatrixoma in childhood: Clinical feature and differential diagnosis.

Journal francais d'ophtalmologie
2023

Giant Pilomatricoma Mistaken for a Malignant Tumor.

The Journal of craniofacial surgery
2022

Bullous Pilomatrixoma After COVID-19 Vaccination.

Cureus
2023

Commonly Misdiagnosed Facial Lesion: Pilomatricoma.

Acta medica (Hradec Kralove)
2023

Calcifying epithelioma of Malherbe - a rare localization.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2022

The stone beneath my skin: Pilomatricoma in a young Nepalese girl.

Annals of medicine and surgery (2012)
2022

Pilomatrix Carcinoma In A 4-Year-Old Child With An Unusual Presentation.

Journal of Ayub Medical College, Abbottabad : JAMC
2022

Dirofilarial nodule as a differential diagnosis for subcutaneous lumps in children.

Pediatric surgery international
2023

Pilomatricoma in the right parotid region: A case report and review of the literature.

Asian journal of surgery
2022

Bullous Pilomatrixoma: Without a "Shadow" of Doubt - Role of ROSE and Cytology.

Indian dermatology online journal
2022

Bullous pilomatricoma arising at a COVID-19 vaccination site.

Dermatologic therapy
2022

Benign Pilomatricoma With Osseous Metaplasia: A Rare Case.

Cureus
2023

Cranial pilomatricoma: a diagnosis to consider.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Surgical experiences in pediatric pilomatricoma: punch incision and elliptical excision.

The Journal of dermatological treatment
2022

Keloid-like Pilomatricoma of the Auricle: A Case Report and Review of Literature.

Case reports in dermatology
2022

Pilomatrixoma in the cheek: a clinical case report.

Autopsy &amp; case reports
2022

Anetodermic pilomatricoma: A clinical, histopathological and dermoscopic perspective.

The Australasian journal of dermatology
2022

Melanocytic matricoma with atypical features: A case of malignant melanocytic matricoma?

The Journal of dermatology
2022

Pilomatricoma with florid ossification: A rare feature in a common tumor.

Indian journal of pathology &amp; microbiology
2022

Perforating pilomatricoma presenting as a cutaneous horn in a patient with myotonic dystrophy.

European journal of dermatology : EJD
2022

A newly growing asymptomatic facial lesion.

Clinical and experimental dermatology
2022

Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association.

BMJ case reports
2023

Association between clinical appearance and histological findings in pilomatricomas.

International journal of dermatology
2022

Pilomatricoma in the neck of an adult male.

Autopsy &amp; case reports
2023

Top Advances in Dermatologic Ultrasound.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2022

Rare and unusual benign tumors of the sinonasal tract and pharynx: Case series and literature review.

Experimental and therapeutic medicine
2022

Ghost cells unveiled: A comprehensive review.

Journal of oral biosciences
2022

Clinicopathological Features of 19 Eyelid Pilomatrixomas.

Ocular oncology and pathology
2022

Giant Pilomatrixoma of the Scrotum: A Rare Case Presentation.

Cureus
2022

Giant pilomatrixoma with bullous appearance on the back: A case report and discussion of misdiagnosis.

Journal of cosmetic dermatology
2022

Calcifying epithelioma of Malherbe on the elbow.

ANZ journal of surgery
2022

Melanocytic matricoma: A report of three cases, review of the literature, and suggestion of a new terminology.

Journal of cutaneous pathology
2022

Multiple pilomatricomas in a child with xeroderma pigmentosum: Coincidence or association?

Pediatric dermatology
2022

A case of multiple perforating pilomatricomas.

Anais brasileiros de dermatologia
2022

Ossifying pilomatricoma and a novel hypothesis for its pathogenesis: A case report and comprehensive literature review.

Medicine
2022

Pilomatrical Acanthoma: An Extremely Rare Intraepidermal Variant of Pilomatricoma.

The American Journal of dermatopathology
2022

The role of high-frequency ultrasound in the clinical management of multiple pilomatricomas.

International journal of dermatology
2022

Pilomatrixoma Recurring as Giant Form.

Cureus
2022

[Benign skin neoplasms in children].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2022

Melanocytic Panfolliculoma: A Case Report of a Rare Benign Follicular Tumor.

The American Journal of dermatopathology
2021

Pilomatrixoma: A Masquerader at Uncommon Sites.

Journal of Indian Association of Pediatric Surgeons
2024

Increasing the Awareness of Pilomatricoma in the Preauricular Area.

Ear, nose, &amp; throat journal
2021

Early Pilomatrix Carcinoma: A Case Report With Emphasis on Molecular Pathology and Review of the Literature.

Cutis
2022

CDX2 and SATB2 positivity in pilomatrix carcinoma: Avoiding an erroneous diagnosis of cutaneous metastasis of gastrointestinal origin.

Journal of cutaneous pathology
2021

Dermoscopic Differentiation of Pilomatricoma From Pilomatrical Carcinoma.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2024

Pilomatrixoma and its Imitators.

Ear, nose, &amp; throat journal
2022

A 5-year retrospective review of skin adnexal tumours received at a tertiary dermatopathology service: implications for linked genetic diagnoses.

The British journal of dermatology
2021

Pilomatrix carcinoma: a rare cutaneous adnexal tumor.

Dermatology online journal
2022

Recurrent giant back proliferating pilomatricoma leading to significant patient morbidity - a case report.

International journal of dermatology
2021

Pilomatrixoma mimicking a breast neoplasm: imaging finding in an uncommon case report.

Radiology case reports
2022

Giant Pilomatrical Tumor With Broad Epidermal Components: An Example of Histological Diversity and a Potential Diagnostic Pitfall of Tumors With Pilomatrical Differentiation.

The American Journal of dermatopathology
2021

Apocrine mixed tumor with pilomatrical differentiation.

Journal of cutaneous pathology
2021

Ultrasound findings in 156 children with 169 pilomatricomas.

Pediatric radiology
2021

Nodular Mass in the Earlobe of an 18-Month-Old Girl.

JAMA otolaryngology-- head &amp; neck surgery
2021

Huge pilomatrixomas of the scalp: A case report.

International journal of surgery case reports
2021

Pilomatrixoma of the Left Scapular Region in a Young Male: A Rare Case Report.

Cureus
2021

Pilomatrixoma in a child mimicking a ruptured epidermal cyst clinically and histopathologically: Case report.

International journal of surgery case reports
2021

Multiple bullous pilomatricomas in a patient with Rubinstein-Taybi syndrome.

The Journal of dermatology
2021

A rare case of cerebellar pilomyxoid astrocytoma associated with neurofibromatosis-1 in a young female; case report highlighting immunohistochemical features.

Indian journal of pathology &amp; microbiology
2021

Pilomatrixoma misdiagnosed as dermatofibrosarcoma protuberans.

Chinese medical journal
2021

Pilomatrixoma with Atypical Features: A Case Report.

Case reports in dermatology
2021

Does endometrial morular metaplasia represent odontogenic differentiation?

Virchows Archiv : an international journal of pathology
2021

Multiple eruptive pilomatricomas in a young woman with glioblastoma multiforme.

Indian journal of dermatology, venereology and leprology
2021

Pilomatrixoma: a common tumour of head and neck, but rarely reported.

BMJ case reports
2021

Pilomatricoma male breast, mimicking breast carcinoma-A rare case.

Indian journal of pathology &amp; microbiology
2021

Minimally invasive surgical treatment of pilomatrixoma.

ANZ journal of surgery
2021

Vulvar Pilomatrix Carcinoma: Morphologic and Molecular Features.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2020

Clinical analysis and review of literature on pilomatrixoma in pediatric patients.

Archives of craniofacial surgery
2020

Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.

Cancer genomics &amp; proteomics
2020

Sonographic characteristics of pilomatricomas and their association with symptom duration.

Medicine
2022

Bilateral Cervical Pilomatricoma: A Diagnostic Dilemma for the Pediatric Otolaryngologist.

Ear, nose, &amp; throat journal
2020

Proliferating pilomatricoma in a 9-year-old girl.

Pediatric dermatology
2021

Common sense and tumor treatment. A case of pilomatrical carcinoma in a 21-year-old patient with surprisingly rapid tumor progression.

Oral oncology
2020

Giant pilomatrixoma: a distinctive clinical variant: a new case and review of the literature.

Dermatology online journal
2020

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature.

Case reports in genetics
2020

A Case Report of a Rapidly Growing Giant Pilomatrixoma on the Posterior Shoulder in a 12-Year-Old Male Patient.

Skin appendage disorders
2020

Not Your Average Skin Cancer: A Rare Case of Pilomatrix Carcinoma.

The Journal of clinical and aesthetic dermatology
2020

Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.

Pediatric dermatology
2020

A rare case of post-traumatic infected pilomatricoma of the finger of the hand diagnosed after performing radioiodine therapy.

Journal of biological regulators and homeostatic agents
2022

Minimally invasive curettage: A better method for removing childhood pilomatricomas than surgical excision.

Journal of the American Academy of Dermatology
2021

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

The Journal of investigative dermatology
2020

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

Anais brasileiros de dermatologia
Ver todos os 387 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study.
    Health science reports· 2026· PMID 41657969mais citado
  2. Giant pilomatrixoma of the scapular region in a child.
    BMJ case reports· 2026· PMID 41500716mais citado
  3. Approach and nomenclature problems of extracutaneous basaloid neoplasias of visceral organs with three cases of basaloid carcinoma described for the first time in the urinary bladder.
    Histology and histopathology· 2026· PMID 41816886mais citado
  4. Diagnostic challenges of giant cervical pilomatrixoma mimicking malignancy: case report and focused literature review.
    Frontiers in medicine· 2026· PMID 41709894mais citado
  5. Basal Cell Carcinoma With Matrical Differentiation Case Report and Review of Management.
    Cureus· 2026· PMID 41669576mais citado
  6. Topical Tacrolimus as a Novel Treatment for Refractory Idiopathic Facial Aseptic Granuloma in a Pediatric Patient.
    Cureus· 2026· PMID 41939604recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:91414(Orphanet)
  2. OMIM OMIM:132600(OMIM)
  3. MONDO:0007564(MONDO)
  4. GARD:9452(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q1704531(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Pilomatrixoma
Compêndio · Raras BR

Pilomatrixoma

ORPHA:91414 · MONDO:0007564
Prevalência
Unknown
Herança
Not applicable
CID-10
D23.3 · Neoplasia benigna da pele de outras partes e de partes não especificadas da face
CID-11
Início
Adolescent, Adult, Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0206711
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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