Reflectance confocal microscopy - Consensus terminology glossary in Brazilian Portuguese for normal skin, melanocytic and non-melanocytic lesions

Abstract Background: Currently, there is no uniform and official terminology in Portuguese for reflectance confocal microscopy analysis, despite the increasing number of Brazilian dermatologists using this new tool. Objective: To present the terminology in Brazilian Portuguese for the description of reflectance confocal microscopy and establish the first Brazilian consensus on terms related to normal skin and cutaneous tumors. Methods: 10 Brazilian specialists from different institutions and states of Brazil were selected to evaluate the best corresponding terms in Portuguese for normal skin, melanocytic and non-melanocytic tumors. The terms used were translated from international consensuses in the English language. The modified Delphi method was used to create the consensus in 3 steps. Results: The terms considered the most appropriate in the Portuguese language to describe the findings of normal skin, melanocytic and non-melanocytic lesions in the reflectance confocal microscopy analysis were presented. Study limitations: The limitations of the present study include the number of participants and limited regional representation (only two of the five Brazilian regions were represented). Conclusion: This Brazilian consensus represents an opportunity for dermatologists and physicians specializing in cutaneous oncology to become familiar with reflectance confocal microscopy, propagating the technique in clinical and research environments to stimulate national and international publications on this subject.

Apéndice cutáneo sacro asociado a lipoma del filum terminal y médula anclada: un caso de diagnóstico prenatal

Los disrafismos espinales cerrados tienen una prevalencia aún desconocida e involucran una gran variedad de formas. El lipoma del filum terminal es considerado dentro de los lipomas espinales y suele asociarse a médula anclada. Los estigmas cutáneos lumbosacros no siempre son indicadores de disrafismo espinal cerrado. Reportamos un caso de diagnóstico prenatal de apéndice cutáneo sacro con sospecha de médula anclada, confirmado al nacer como lipoma del filum terminal con médula anclada.

Closed spinal dysraphisms have a still unknown prevalence and involve a wide variety of forms. Lipoma of the filum terminale is considered within spinal lipomas and is usually associated with tethered medulla. Lumbosacral cutaneous stigmata are not always indicative of closed spinal dysraphism. We report a case of prenatal diagnosis of sacral cutaneous appendage with suspected tethered cord, confirmed at birth as lipoma of the filum terminale with tethered cord.

In vivo reflectance confocal microscopic findings in a case of trichofolliculoma

Abstract Trichofolliculoma is a rare follicular hamartoma whose dermoscopic features have been scarcely reported. On the other hand, reflectance confocal microscopy features have not been described yet. In the present study, the authors report reflectance confocal microscopy features in a case of trichofolliculoma as squamous hyperplasia forming irregular finger-like protrusions around the hair follicle and papillomatous hyperplasia of the hair follicle epithelium, which correlated with histopathology. This case suggests that reflectance confocal microscopy may help incorrect in vivo diagnosis of trichofolliculoma in cases difficult to diagnose by morphology and dermoscopy.

Hidradenoma papilífero de la vulva con componente de carcinoma in situ: reporte de caso y revisión de la bibliografía / Papilliferous hidradenoma of the vulva with carcinoma in situ component: case report and literature review

Resumen ANTECEDENTES: El cáncer de vulva es relativamente raro, representa menos del 1% de los tumores malignos de la mujer; su incidencia aumenta con la edad. La variedad más frecuente es el carcinoma escamoso (80 al 90%), seguido del melanoma. En este reporte se revisa un carcinoma de origen glandular, como el hidradenoma papilífero del tipo glándula mamaria (mammary-like) de la vulva. CASO CLÍNICO: Paciente de 50 años, con una lesión papular en la vulva de dos años de evolución, con crecimiento lento y progresivo, ocasional sensación de masa y dolor, con colposcopia negativa, sin antecedentes de patología mamaria y con una biopsia previa que reportó hidradenoma papilífero vulvar. Se trató con resección completa de la lesión, con anestesia regional, con bordes libres, no se identificó algún componente infiltrante. En la actualidad permanece sin evidencia de recaída ni requerimiento de tratamientos adicionales durante el seguimiento. CONCLUSIÓN: El hidradenoma papilífero es una lesión benigna, poco frecuente, relacionada con las glándulas anogenitales de tipo mammary-like, con buen pronóstico. El tratamiento recomendado es la escisión quirúrgica, que casi siempre es curativa.

Abstract BACKGROUND: Vulvar cancer is relatively rare, representing less than 1% of malignant tumors in women; its incidence increases with age. The most frequent variety is squamous cell carcinoma (80 to 90%), followed by melanoma. In this report we review a carcinoma of glandular origin, such as papilliferous hydradenoma of the vulva of the mammary gland (mammary-like) type. CLINICAL CASE: We present a 50-year-old patient with 2 years evolution of a papular lesion on the vulva with slow and progressive growth, intermitent sensation of mass and pain, with negative colposcopy, no history of breast pathology and with a previous biopsy that reported vulvar papilliferous hydradenoma. She was treated with complete resection of the lesion under regional anesthesia, with free margins, without identifying an infiltrating component and currently without evidence of relapse or requirement of additional treatments. CONCLUSION: Papilliferous hidradenoma is a rare benign lesion related to the mammary-like anogenital glands, with a good prognosis and its recommended treatment is surgical excision, which is generally curative.

Cistoadenoma volumoso associado a teratoma ovariano maduro, com evolução para pseudomixoma peritoneal: relato de caso / Giant cystadenoma associated with mature ovarian teratoma with progression to pseudomyxoma peritonei: a case report

Massas anexiais representam grande desafio diagnóstico, devido a seu caráter geralmente assintomático¹. Traz-se caso peculiar de paciente que evoluiu com sintomas exuberantes de rápida evolução, situação característica de cistoadenomas, tumores benignos de origem epitelial²,³. Realizada laparotomia, com achados macroscópicos que revelaram conteúdo mucinoso e presença de pelos e neovascularização em seu interior. O anatomopatológico confirmou o diagnóstico de cistoadenoma associado a teratoma ovariano, sendo assim considerado um tumor de colisão ovariana.

Adnexal masses represent a major diagnostic challenge due to its usually asymptomatic characteritcs¹. We present a peculiar case of a patient who evolved with exuberant symptoms of rapid evolution, characteristic of cystadenomas, benign tumors of epithelial origin²,³. Laparotomy was performed, with macroscopic findings that revealed mucinous content and the presence of hairs and neovascularization inside. Pathology confirmed the diagnosis of cystadenoma associated with ovarian teratoma, thus being considered an ovarian collision tumor.

Case for diagnosis. An exophytic plaque on the chest. Carcinoma of the mammary crease

Abstract Carcinoma of the mammary crease is a very rare variant of breast carcinoma, in which the skin lesions are usually the presenting sign. The authors present the case of an 88-year-old woman with an exophytic plaque in the mammary crease of approximately ten years duration. The histopathological and immunohistochemical studies confirmed the diagnosis of infiltrative breast carcinoma (carcinoma of the mammary crease variant). This case highlights the important role of the dermatologist in the early diagnosis of this rare variant of breast cancer.

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.

Espiradenoma écrino gigante associado à síndrome de Brooke-Spiegler / Giant eccrine spiradenoma associated with Brooke-Spiegler syndrome

A síndrome de Brooke-Spiegler é doença genética autossômica dominante rara, com predisposição a diversos tumores anexiais, dentre eles tricoepitelioma, cilindroma e espiradenoma. Os tumores surgem na segunda década de vida, aumentam progressivamente com a idade e sua prevalência é maior em mulheres. É causada por mutação no gene CYLD, localizado no cromossomo 16q12-q13. Relatamos caso exuberante de espiradenoma écrino gigante associado a essa síndrome.

Brooke-Spiegler syndrome is a rare autosomal dominant genetic disease with predisposition to many adnexal tumors, including trichoepithelioma, cylindroma and spiroadenoma. Tumors appear in the second decade of life, progressively increase with age, and their prevalence is higher in women. It is caused by a mutation in the CYLD gene, localized in the chromosome 16q12-q13. We report a exuberant case of giant eccrine spiradenoma associated to this syndrome.

Locally aggressive trichilemmal carcinoma

Abstract: Trichilemmal carcinoma is a rare adnexal neoplasia with histologic features reminiscent of the outer root sheath of hair follicles. The clinical presentation of trichilemmal carcinoma is variable, as it may mimic basal cell carcinomas and squamous cell carcinomas, thus requiring histologic diagnosis. We report the case of a patient with aggressive trichilemmal carcinoma in the auricle.

Siringocistoadenoma papilífero: reporte de 11 casos del Hospital Clínico de la Universidad de Chile / Papilliferum Syringocystoadenoma: report of 11 cases of Clinical Hospital of the University of Chile

Introducción: El siringocistoadenoma papilífero (SP) es un tumor anexial benigno inusual, de etiología desconocida. Por lo general, se presenta desde el nacimiento, o en la primera infancia como una lesión aislada, frecuentemente asociada a un nevo sebáceo de Jadassohn. Objetivo: Describir y analizar las características demográficas, clínicas e histopatológicas del SP. Materiales y métodos: Revisión retrospectiva de informes histopatológicos del Departamento de Anatomía Patológica del Hospital Clínico de la Universidad de Chile entre los años 2005 y 2016. Se incluyeron todas las muestras que describieron dentro del diagnóstico histológico las palabras "siringocistoadenoma papilífero". Resultados: La muestra está compuesta por 11 pacientes; 9 mujeres y 2 hombres. En 5 pacientes, se desarrolló un SP a partir de un nevo sebáceo y en 6 surgió de novo. El total de la muestra desarrolló el SP durante o posterior a la pubertad. Tanto los pacientes con SP solitario, como aquellos asociados a un nevo sebáceo, presentaron clínica similar con una placa o pápula verrucosa aislada. Los principales diagnósticos diferenciales fueron el nevo sebáceo, nevo verrucoso y verruga. Conclusiones: Este estudio constituye la primera serie de casos de SP en un hospital en Santiago de Chile. La forma clínica más frecuente fue como placa verrucosa solitaria asintomática, con casos aislados como pápula verrucosa y sólo un caso con aspecto de cuerno cutáneo. Se destaca el rol de la extirpación quirúrgica completa, tanto para establecer el diagnóstico, como para ofrecer un tratamiento definitivo, disminuyendo el riesgo de transformación maligna a siringocistoadenocarcinoma papilífero.

Introduction: Syringocystoadenoma papilliferum (SCAP) is an unusual benign adnexal tumor of unknown etiology. Usually it is presented at birth or in early childhood as an isolated lesion associated with nevus sebaceous of Jadassohn. Objective: To describe and analyze the demographic, clinical and histopathological characteristics of SCAP. Materials and methods: A retrospective review of histopathological reports was performed at the Clinical Hospital´s Department of Pathological Anatomy from the University of Chile including biopsies from 2005 to 2016. All the samples that described the histological diagnosis of "syringocystoadenoma papilliferum" were included. Results: The sample consists of 11 patients; 9 women and 2 men. In 5 patients, an SCAP was developed from a sebaceous nevus and in 6 it developed de novo. The total sample developed SCAP during or after puberty. Both the patients with solitary SCAP, and those associated with nevo sebaceous, presented similar clinical signs with an isolated verrucous plaque or papule. The main differential diagnoses were the nevo sebaceous, warty nevus and wart. Conclusions: This study is the first SCAP case series in Santiago, Chile. The most frequent clinical form was an asymptomatic solitary verrucous plaque, with isolated cases as a verrucous papule and a single case as a cutaneous horn. The role of complete surgical resection is highlighted, both to establish the diagnosis and to offer a definitive treatment, reducing the risk of malignant transformation to syringocystadenocarcinoma papilliferum.

Case for diagnosis. A bluish nodule on the scalp

Abstract: Acrospiroma, also known as hidradenoma, is a rare cutaneous tumor that has several histological characteristics. As a consequence, a high index of suspicion is necessary for its diagnosis. Here we report a case that illustrates the importance of a good clinical-pathologic correlation in order to recognize this disease.

Trichilemmal Carcinoma from Proliferating Trichilemmal Cyst on the Posterior Neck

Trichilemmal cysts are common fluid-filled growths that arise from the isthmus of the hair follicle. They can form rapidly multiplying trichilemmal tumors-, also called proliferating trichilemmal cysts, which are typically benign. Rarely, proliferating trichilemmal cysts can become cancerous. Here we report the case of a patient who experienced this series of changes. The 27-year-old male patient had been observed to have a 1×1 cm cyst 7 years ago. Eight months prior to presentation at our institution, incision and drainage was performed at his local clinic. However, the size of the mass had gradually increased. At our clinic, he presented with a 5×4 cm hard mass that had recurred on the posterior side of his neck. The tumor was removed without safety margin, and the skin defect was covered with a split-thickness skin graft. The pathologic diagnosis was a benign proliferating trichilemmal cyst. The mass recurred after 4months, at which point, a wide excision (1.3-cm safety margin) and split-thickness skin graft were performed. The biopsy revealed a trichilemmal carcinoma arising from a proliferating trichilemmal cyst. This clinical experience suggests that clinicians should consider the possibility of malignant changes when diagnosing and treating trichilemmal cysts.

Squamoid eccrine ductal carcinoma

Abstract Squamoid eccrine ductal carcinoma is an eccrine carcinoma subtype, and only twelve cases have been reported until now. It is a rare tumor and its histopathological diagnosis is difficult. Almost half of patients are misdiagnosed as squamous cell carcinoma by the incisional biopsy. We report the thirteenth case of squamoid eccrine ductal carcinoma. Female patient, 72 years old, in the last 6 months presenting erythematous, keratotic and ulcerated papules on the nose. The incisional biopsy diagnosed squamoid eccrine ductal carcinoma. After excision, histopathology revealed positive margins. A wideningmargins surgery and grafting were performed, which again resulted in positive margins. The patient was then referred for radiotherapy. After 25 sessions, the injury reappeared. After another surgery, although the intraoperative biopsy showed free surgical margins, the product of resection revealed persistent lesion. Distinction between squamoid eccrine ductal carcinoma and squamous cell carcinoma is important because of the more aggressive nature of the first, which requires wider margins surgery to avoid recurrence.

Syringocystadenoma papilliferum in an unusual location

Abstract: Syringocystadenoma papilliferum is a rare benign hamartomatous adnexal tumor of the apocrine or eccrine sweat glands. Most patients present a solitary lesion in the head and neck region. Presentation outside the head and neck region is even more uncommon. We present a case of Syringocystadenoma papilliferum with papulonodular lesion located on the vulva of an infant girl. This case illustrates the atypical location of this rare disease and adds to the differential diagnosis of lesions on the vulva.

Benign follicular tumors

Abstract: Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.

Cellular neurothekeoma: case report and its (un) relation with nerve sheath myxoma

Neurothekeoma is an uncommon, benign neoplasm presenting in young adults, primarily on the head and neck. It was initially related to nerve sheath myxoma but with the advent of immunohistochemistry, new insights into its cellular differentiation and origin have emerged, unlinking Neurothekeoma and nerve sheath myxoma. Herein we describe a 19-year-old male who had had a frontal, fl esh-colored, asymptomatic papule for 2 years. Histology showed a dermal fusocellular-spindle cell tumor, including an eosinophilic cytoplasm with mild cellular pleomorphism and moderately dense fi brous stroma. IHQ was positive for CD10 and negative for S100 and Claudin-1. These fi ndings were compatible with cellular Neurothekeoma. The lesion was completely extirpated and at the 6-month follow-up, the patient was asymptomatic and had experienced no recurrences.

Can We Confidently Diagnose Pilomatricoma with Fine Needle Aspiration Cytology?

Pilomatricomas can be confidently diagnosed cytologically due to their characteristic cytomorphological features. However, these lesions are rarely encountered by cytopathologists and thus pose a diagnostic dilemma to even experienced individuals, especially when the lesions are focally sampled. We describe two cases of histologically confirmed pilomatricoma. The first case is of a 13-year-old boy with posterior cervical ‘lymphadenopathy’, and the second one is of a 12-year-old girl with a lower cheek swelling. Both aspirates comprised predominantly atypical basal-like cells, with prominent nucleoli. ‘Ghost cells’ were readily identified by cell block in case two, but cell block in case one yielded no diagnostic material. In case two, pilomatricoma was accurately diagnosed pre-operatively. A cytological suspicion of a neoplastic process was raised in case one. Despite being diagnostically challenging, pilomatricoma can be diagnosed with careful observation of two unique cytological features of the lesions: (1) pathognomonic ‘ghost cells’ and (2) irregular, saw-toothed, loosely cohesive basaloid cells, with prominent nucleoli. The role of thorough sampling of the lesion, with multiple passes of various sites, cannot be overemphasized.

Large cutaneous apocrine carcinoma occurring on right thigh aggravated after moxa treatment

Primary cutaneous apocrine carcinoma is a rare adnexal tumor of the skin that occurs mainly in the axilla, anogenital area while the scalp and the lower extremities, especially the thigh, are very unusual sites. However, clinical or pathologic characteristics have not been well established due to a paucity of this tumor. Herein, we report very unusual case of apocrine carcinoma present as a huge mass in the lateral thigh of 77-year-old woman, which was aggravated abruptly after an irritation by moxa treatment, with a brief review of the literature.

Tumor of follicular infundibulum with unique features

Tumor of the follicular infundibulum is a rare benign cutaneous adnexal neoplasm with variable clinical presentation. In most cases the diagnosis is made with the help of histopathology, due to lack of a characteristic clinical presentation. The most common form is a solitary lesion, but it can be multiple or eruptive, then called infundibulomatose. This case report illustrates a patient with multiple lesions of tumor of the follicular infundibulum with bizarre aspect and atypical location.

Syndrome In Question

Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.