Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

Pilomatrix carcinoma of the lacrimal caruncle: a case report / Carcinoma pilomatricial da carúncula lacrimal: relato de caso

ABSTRACT A 45-year-old man presented with a 3-month history of a mass located in the caruncle of his right eye. An incisional biopsy had been performed one month prior by another specialist, and the histopathology report showed basal cell carcinoma. The mass was completely excised with a 2 mm safety margin, and the large conjunctival defect was reconstructed with one sheet of amniotic membrane allograft. A histological diagnosis of pilomatrix carcinoma was established. To prevent recurrence after surgery, we added bevacizumab (25 mg/mL, 1.25 mg/mL per drop) eye drops four times per day for three months. At the one-year follow-up, the patient showed no evidence of local recurrence or distant metastasis after initial excision and remains under close follow-up. Pilomatrix carcinoma should be considered in the differential diagnosis of a caruncular mass.

RESUMO Um homem de 45 anos apresentou história de massa na carúncula no olho direito durante 3 meses. Uma biópsia incisional foi realizada 1 mês antes por outro especialista e o laudo histopatológico mostrava carcinoma basocelular. A massa foi completamente excisada, com uma margem de segurança de 2 mm, e a grande lesão conjuntival foi reconstruída com uma folha de aloenxerto de membrana amniótica. Foi estabelecido um diagnóstico histológico de carcinoma pilomatricial. Para evitar a recorrência após a cirurgia, adicionamos colírio de bevacizumabe (25 mg/mL, 1,25 mg/mL por gota) quatro vezes ao dia durante três meses. No seguimento de 1 ano, o paciente não apresentou evidência de recidiva local ou metástase distante após a excisão inicial e continua sob acompanhamento próximo. O carcinoma pilomatricial deve ser considerado no diagnóstico diferencial de uma massa caruncular.

Pilomatrixoma buloso: una rara pero característica variante clínica / Bullous pilomatrixoma: a rare but characteristic clinical variant

El pilomatrixoma es un tumor anexial benigno, que muestra diferenciación hacia células matriciales y supramatriciales del folículo piloso. Es el segundo tumor benigno más frecuente en la población infantil luego del quiste epidérmico. Su presentación clínica habitual consiste en una lesión única, de consistencia firme y generalmente indolora.1 La variante anetodérmica o bulosa es poco frecuente, en general de rápido crecimiento y en ocasiones dolorosa.2 Se presenta a continuación un caso clínico de esta rara variante, por la importancia de conocer esta particular forma presentación.

A clinical case of bullous pilomatrixoma is present. Correspond to the second most frequent benign tumor in children, derived from the matrix cells of the hair follicle. It commonly presents as a single lesion, of firm consistency and mostly painless. The bullous variant corresponds to 2% of the presentations, the morphology is explained by the dilation of the lymphatic vessels and the consequent extravasation of lymph, as well as by the absence of elastic and collagen fibers. Treatment is the surgical excision of the lesion, and a biopsy specimen is necessary to establish a definitive diagnosis. Knowing this form of presentation allows us to pose it as a diagnostic option in clinical practice.

Optimal Timing of Surgical Excision in Pediatric Pilomatricoma: Association between Clinicopathological Features and Cosmetic Outcomes

BACKGROUND: The treatment of choice for pilomatricomas is surgical excision; however, data for the optimal timing of treatment and cosmetic outcomes are limited.OBJECTIVE: This study aimed to investigate the optimal timing of treatment in pilomatricomas by considering clinicopathological findings and cosmetic outcomes.METHODS: Seventy-three pilomatricomas patients aged ≤15 years were retrospectively reviewed. Patients were classified into early excision (disease duration ≤12 months, group A) and delayed excision groups (disease duration >12 months, group B). Tumor characteristics, and histopathological features with evolutionary stages were assessed. Cosmetic outcomes were evaluated by the Modified Vancouver Scar Scale (MVSS), 5-point patient satisfaction score, and complication rates.RESULTS: Group A showed better cosmetic outcomes than group B in the MVSS (1.53±1.22 vs. 3.68±1.84), 5-point patient satisfaction score (4.08±0.89 vs. 3.18±1.01), and complication rates (11.8% vs. 36.4%), respectively (p<0.05). Secondary anetoderma, tent sign, calcification, and late regressive stage (evolutionary stage IV) were more common in group B, (p<0.05). Moreover, evolutionary stages showed a positive correlation with mean MVSS (r=0.670, p<0.05).CONCLUSION: Early excision (disease duration ≤12 months) provides superior cosmetic outcomes compared to delayed procedures. Early recognition, diagnosis, and management for pediatric pilomatricomas is important to improve overall cosmetic outcomes.

Pilomatrixomas en niños: a propósito de 149 casos. Estudio retrospectivo en dos centros pediátricos / Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children's hospitals

El pilomatrixoma es un tumor benigno cutáneo, de frecuente aparición en los niños, que se origina en las células de la matriz del folículo piloso. Se presenta como un nódulo o tumor, aproximadamente, de 0,5 a 3 cm de tamaño, de consistencia cálcica, de bordes facetados, con piel suprayacente eritematoazulada. En ocasiones, la piel puede atrofiarse, dar la apariencia de una ampolla e, incluso, extruir material cálcico. El diagnóstico se sospecha por la presentación clínica característica y los estudios de imágenes complementarios. El diagnóstico definitivo es por los hallazgos histológicos. La extirpación quirúrgica es el tratamiento de elección. Se presentan los datos epidemiológicos, clínicos, estudios complementarios y técnicas quirúrgicas empleadas de 149 pilomatrixomas resecados en 137 pacientes tratados en los Servicios de Dermatología de los hospitales de pediatría Dr. Pedro de Elizalde y Prof. Dr. Juan P. Garrahan.

A pilomatrixoma is a benign skin tumor common in children, which develops from the matrix cells of hair follicles. It presents as a nodule or tumor of approximately 0.5-3 cm in size, with calcium-like consistency, faceted edges, and blue erythematous overlying skin. Sometimes, the skin may atrophy and look like a blister or even extrude calcium. Diagnosis is suspected based on the typical clinical presentation and supplementary imaging tests. The definite diagnosis is made according to histological findings. Surgical removal is the treatment of choice. Here we describe the epidemiological and clinical data, supplementary tests, and surgical techniques in relation to 149 pilomatrixomas resected in 137 patients treated at the Departments of Dermatology of two children's hospitals: Dr. Pedro de Elizalde and Prof. Dr. Juan P. Garrahan.

Manifestaciones clínicas de pilomatrixoma en un paciente pediátrico / Clinical manifestations of pilomatrixoma in a pediatric patient

Introducción: El pilomatrixoma es un tumor benigno que afecta fundamentalmente a pacientes femeninas menores de 10 años. Se manifiesta como una masa sólida y encapsulada, situada profundamente en la dermis inferior y recubierto de piel normal; puede medir entre 3 y 30 milímetros. Objetivo: Informar las manifestaciones clínicas de este tumor que permiten llegar al diagnóstico de un pilomatrixoma. Presentación del caso: Se presenta el caso de un adolescente de 12 años de edad, que acude a consulta de dermatología del Hospital Andino de Chimborazo, con manifestaciones clínicas que permiten hacer el diagnóstico de pilomatrixoma. Conclusiones: El pilomaxitroma es un raro tumor que, aunque afecta frecuentemente a niñas menores de 10 años, también puede presentarse en pacientes mayores del sexo masculino. El estudio anatomopatológico resulta vital para realizar el diagnóstico de la enfermedad y una vez realizado dicho diagnóstico la excéresis del tumor es el procedimiento más adecuado(AU)

Introduction: Pilomatrixomais a benign tumor that mainly affects female patients under 10 years old. It manifests as a solid and encapsulated mass, located deep in the lower dermis and covered with normal skin; it can measure between 3 and 30 mm. Objective: To present the clinical manifestations that allow to reach the diagnosis of a pilomatrixoma. Case presentation: It is presented the case of a 12-year-old male adolescent, who attended the dermatology clinic in the Andean Hospital of Chimborazo, with clinical manifestations that allow the diagnosis of pilomatrixoma. Conclusions: Pilomaxitroma is a rare tumor that, although it frequently affects girls under 10 years of age, can also occur in older male patients. The anatomopathological study is vital to make the diagnosis of the disease and once performed the same exceresis of the tumor is the most appropriate procedure(AU)

Pilomatrix carcinoma: Reporte de un caso y revisión de la literatura / Pilomatrix carcinoma: Case report and literature review

Pilomatrix carcinoma es la forma maligna del pilomatrixoma que es una neoplasia benigna que se presenta en niños y adultos. Es infrecuente, se presenta como un nódulo solitario a predominio de cabeza y cuello, de tamaño variable; en varones de mediana edad. Se considera una neoplasia maligna de bajo grado y el manejo de elección es la escisión completa. Se presenta el caso de un varón de 32 años con un nódulo en región temporal occipital derecha, blando e indoloro, de 1,8 cm de longitud. Al corte se observó un tejido sólido amarillento encapsulado, y a la microscopía, bordes bien delimitados por células basaloides con núcleos hipercromáticos, pleomórficos, nucléolo prominente y de 0 a 3 mitosis atípicas por campo de alto poder; centro necrótico y células "fantasma". Dentro del diagnóstico diferencial debe considerarse el pilomatrixoma proliferante, el quiste triquilemal proliferante maligno y el carcinoma de células basales con diferenciación matricial. Los estudios complementarios de inmunohistoquímica no fueron contributorios. (AU)

Pilomatrix carcinoma is the malignant counterpart of pilomatrixoma, which is a benign neoplasm affecting children and adults. It is a rare condition, presenting as a solitary nodule on the head or neck mostly seen in middle age males. It is considered a low grade malignant condition; surgical removal is the treatment of choice. We report the case of a 32-year-old male patient who presented with a nodular lesion of 1.8 cm located on the temporo-occipital region. The section of this nodule showed an encapsulated solid yellow tissue that showed under the microscopy well demarcated borders with basal cells presenting with pleomorphic, hyperchromatic nucleus, prominent nucleolus and 0-3 atypical mitosis per high power field, necrotic center and "ghost cells". The differential diagnosis should include pilomatrixoma proliferans, malignant proliferative trichilemmal cyst and basal-cell carcinoma with matricial differentiation. Complementary immunohistochemistry studies were non-contributory. (AU)

Importance of Individual Ghost Cells in Fine-Needle Aspiration Cytology Diagnosis of Pilomatricoma

BACKGROUND: Although histological diagnosis of pilomatricoma is not difficult because of its unique histological features, cytological diagnosis through fine-needle aspiration cytology (FNAC) is often problematic due to misdiagnoses as malignancy. METHODS: We reviewed the cytological features of 14 cases of histologically-proven pilomatricoma from Korea Cancer Center Hospital, with a discussion on the diagnostic pitfalls of FNAC. RESULTS: Among 14 cases of pilomatricoma, 10 (71.4%) were correctly diagnosed through FNAC, and two (14.3%) were misdiagnosed as carcinoma. Cytologically, all cases had easily recognizable clusters of basaloid cells and foreign body-type multinucleated cells. Although ghost cells were also found in all cases, some were inconspicuous and hardly recognizable due to their small numbers. CONCLUSIONS: An accurate diagnosis of pilomatricoma in FNAC is feasible with consideration of clinical information and close examination of ghost cells.

Multiple Pilomatricomas with a Bullous Appearance / 대한피부과학회지

Pilomatricoma or calcifying epithelioma of Malherbe is a benign tumor originating from the matrix of hair follicles. Clinically, these tumors are classified as familial, perforating, multinodular, exophytic, anetodermic, bullous, and giant pilomatricomas. The bullous variety is observed only in 3 to 6% of cases. Furthermore, multiple pilomatricomas are rare and are usually associated with genetic disorders. To date, only 13 cases of bullous pilomatricoma and 8 cases of multiple pilomatricomas have been reported in Korean dermatologic literature. Among these cases, no case of multiple bullous pilomatricomas has been reported. This report describes a 23-year-old healthy man who was diagnosed with multiple pilomatricomas with bullous features, based on clinical and histopathological findings.

Pilomatrixoma proliferante una rara variante histopatológica simulando un carcinoma de células escamosas / Pilomatrixoma proliferating a rare variant histopathological simulating a cell carcinoma scaly

El Pilomatrixoma es un tumor anexial benigno. Presenta una variante histopatológica infrecuente denominada pilomatrixoma proliferante reportada en 1997 por Kaddu et al. Corresponde a una lesión compuesta predominantemente por una proliferación lobular de células basaloides, con atipia nuclear variable y figuras mitóticas, áreas focales que contienen material cornificado eosinófilo, junto con células sombra. Se propuso al pilomatrixoma proliferante como un subconjunto histopatológico distintivo del pilomatrixoma y se consideró como una variante proliferativa con un perfil histopatológico benigno. La dermatoscopía en este tumor, sobre todo en pacientes de edad avanzada, puede llegar a constituir una trampa dermatoscópica, que es difícil de diferenciar de otras lesiones, como el melanoma o el carcinoma de células basales. Existen múltiples reportes de casos en la literatura donde se informa de pilomatrixomas clásicos o proliferantes simulando otras neoplasias. Presentamos el caso de una paciente de 88 años con pilomatrixoma proliferante facial que simuló clínicamente un carcinoma de células escamosas y llevó a confusión diagnóstica inicial, se destacan las características histopatológicas y clínicas de los pilomatrixomas proliferantes.

Pilomatrixoma is a benign adnexal tumor. It has an infrequent histopathological variant called proliferating pilomatrixoma reported in 1997 by Kaddu et al. It corresponds to a lesion composed predominantly by a lobular proliferation of basaloid cells, with variable nuclear atypia and mitotic figures, focal areas containing eosinophilic cornified material, together with shadow cells. The proliferating pilomatrixoma was proposed as a distinctive histopathological subset of the pilomatrixoma and was considered as a proliferative variant with a benign histopathological profile. Dermatoscopy in this tumor, especially in elderly patients, can result in a dermatoscopic trap, which makes it difficult to differentiate from other lesions, such as melanoma or basal cell carcinoma. There are multiple reports of cases in the literature where classic or proliferating pilomatrixomas were reported simulating other neoplasms. We present the case of an 88-year-old patient with a proliferating facial pilomatrixoma that clinically simulated a squamous cell carcinoma and led to an initial diagnostic confusion, highlighting the histopathological and clinical characteristics of the proliferating pilomatrixoma.

Malignant pilomatricoma of the cheek in an infant

Malignant pilomatricoma (pilomatrical carcinoma) is a rare, locally occurring malignant tumor with a high rate of recurrence in the case of incomplete excision. This tumor has two characteristics. First, recurrences of pilomatrical carcinoma are common; second, distant metastasis is rare, but if it occurs, it is very fatal. It has characteristic features of high mitotic counts, cellular atypia, and local invasion. Although fine needle aspiration and excisional biopsy could help to confirm this tumor diagnosis, pathologic findings are critical. Pilomatricomas have some characteristic features in histological aspect, such as epithelial islands of basaloid cells and shadow cells or ghost cell. Also, various types of immunohistochemical staining are used to confirm the diagnosis. Despite the lack of clear surgical criteria, treatment is a wide local excision with histologically clear resection margins with or without adjuvant radiotherapy.

Pilomatrixoma quístico con verruga vulgar intraquística: reporte de un caso / Cystic pilomatrixoma with intracystic vulgar wart: case report

El pilomatrixoma es una neoplasia anexial benigna, que habitualmente se presenta como pápula o nódulo subcutáneo, de crecimiento lento y asintomático. Es más frecuente en niños. El diagnóstico se basa en hallazgos clínicos, y la ecografía es útil como examen complementario. El tratamiento es su resección quirúrgica. Se presenta un caso infrecuente de pilomatrixoma quístico con verruga vulgar intraquística en un paciente adulto.

Pilomatricoma is a benign adnexal tumor, usually presenting as a slow growing asymptomatic subcutaneous papule or nodule. It is more common in children. The diagnosis is based on clinical findings, and ultrasound is useful as a complementary workup tool. Its treatment is surgical excision. We present a rare case of a cystic pilomatricoma with an intracystic verruca vulgaris in an adult patient.

Pilomatrixoma ampollar en caso pediátrico / Bullous pilomatrixoma in pediatric case

Se realiza la presentación de un caso clínico en edad pediátrica con diagnóstico de pilomatrixoma, variedad ampollar. Este tumor benigno originado en la vaina del folículo piloso muestra una incidencia elevada en las dos primeras décadas de vida. El objetivo de este artículo es presentar un caso con diagnóstico de un tumor, con características clínicas atípicas e inusuales. En ocasiones este tipo de tumor, conllevan al diagnóstico erróneo de la entidad, realizándose el diagnóstico de certeza mediante el estudio histopatológico una vez que se procede a la exéresis quirúrgica de la lesión (AU).

A clinical case with diagnosis of bullous variety pilomatrixoma in pediatric age is presented. This benign tumor originated in the sheath of the hair follicle shows a high incidence in the first 20 years of life. The aim of this work is presenting a case with tumor diagnosis, the clinical characteristics of which sometimes leads to an erroneous diagnosis of the entity in the atypical and unusual varieties. The accurate diagnosis was made through the pathologic study after the surgical excision of the lesion (AU).

Bullous Pilomatricoma: A Case Report / 대한피부과학회지

No abstract available.

A Case of Pilomatricoma Arising at a DTP Vaccination Site / 대한피부과학회지

No abstract available.

A Case of Exophytic Pilomatricoma Clinically Resembling Keratoacanthoma

No abstract available.

Múltiplos pilomatricomas em membros superiores: relato de exérese cirúrgica / Multiple pilomatricomas in upper limbs: report of surgical exeresis

Pilomatricoma é uma neoplasia folicular benigna relativamente rara. Pode ocorrer em qualquer idade, mas menos de 13% dos casos acontecem em pessoas com mais de 50 anos, sendo mais comum em mulheres (1,5 a 2,5 mulheres:1 homem). A localização mais frequente é a região cervical, seguida das áreas frontais, periorbitárias e pré-auriculares (1). Clinicamente, apresenta-se como um tumor subcutâneo ou intradérmico, endurecido e de crescimento lento. O diagnóstico pré-cirúrgico é quase sempre difícil (3). O tratamento padrão é o cirúrgico, com margens de segurança amplas para minimizar o risco de recorrência nas variantes malignas (2,3). Relatamos um caso atípico e exuberante de múltiplos pilomatricomas em membros superiores em um paciente do sexo masculino de 55 anos (AU)

Pilomatricoma is a relatively rare benign follicular neoplasm. It can occur at any age, but less than 13% of cases occur in people over 50 years old, and it is more common in women (1.5 to 2.5 women: 1 man). The most frequent location is the cervical region, followed by the frontal, periorbital and pre-auricular areas (1). Clinically it presents as a hardened and slowly growing subcutaneous or intradermal tumor. Preoperative diagnosis is almost always difficult (3). The standard treatment is surgical, with wide safety margins to minimize the risk of recurrence in malignant variants (2,3). We report an atypical and exuberant case of multiple pilomatricomas in upper limbs in a 55-year-old male patient (AU)

Atypical presentation of pilomatrixoma in the tarsal conjunctiva / Apresentação atípica de pilomatricoma na conjuntiva tarsal

ABSTRACT Pilomatrixoma is a rare benign tumor, which usually affects young women in the head and neck region. The eyelid is a common site of the disease, though it is very rare in the tarsal conjunctiva.The pilomatrixoma has clinical pleomorphism, which confuses this disease with other similar conditions. The diagnosis is made by pathological examination in most cases. The treatment is surgical, performed by total excision of the lesion with clear margins and recurrence is very uncommon.We present an unusual case of probable recurrent pilomatrixoma in the left upper tarsal conjunctiva.

RESUMO O pilomatricoma é uma neoplasia benigna rara, geralmente acomete mulheres jovens, ocorrendo na região da cabeça e pescoço. A pálpebra é um local comum de aparecimento do pilomatricoma, contudo, seu aparecimento na conjuntiva tarsal é muito raro. O diagnóstico é feito pelo exame anátomo-patológico na maioria dos casos, pois seu pleomorfismo clínico o confunde com outras alterações. O tratamento é cirúrgico, realizado por meio da exérese total da lesão com margens livres. São raros os casos de recidiva. Apresentamos um caso atípico de provável recidiva de pilomatricoma, localizado na conjuntiva tarsal superior à esquerda.

Pilomatrixoma

Pilomatrixoma is a benign skin tumor that arises from the hair cell matrix. It is a rare tumor that commonly presents in certain locations of the body. We present a seventeen-year-old female with pilomatrixoma located in the lateral aspect of the right thigh. The tumor is rare and presented in a rare location