Hamartoma quístico retrorrectal (tailgut cyst): reporte de un caso y revisión de la literatura / Retrorectal Cystic Hamartoma (Tailgut cyst): Case Report and Literature Review

Resumen Los hamartomas quísticos retrorrectales (tailgut cyst) son tumores congénitos multiloculados, poco frecuentes y derivados de remanentes embrionarios posanales que a menudo no se diagnostican debido a su rara incidencia, localización anatómica y su presentación clínica inespecífica. Presentamos el caso de un paciente de 21 años con historia de fístula perianal que fue intervenida, pero presentó recidiva y en la resonancia se encontró el hamartoma quístico. El tratamiento definitivo fue la resección completa de la lesión por vía posterior (Kraske-Mason).

Abstract Retrorectal Cystic Hamartoma (tailgut cyst [TGC]) are uncommon, multiloculated congenital tumors derived from embryonic post-anal or tail gut remnants often undiagnosed due to their rare incidence, anatomical location, and non-specific clinical presentation. We presented a 21-year-old patient with a perianal fistula history who underwent surgery. Nonetheless, she showed recurrence, and the cystic hamartoma was found in the resonance imaging. Therefore, the definitive treatment was complete resection of the lesion by posterior approach (Kraske-Mason).

Esteatocistoma solitario de cuero cabelludo / Solitary steatocystoma of the scalp

El esteatocistoma es un hamartoma quístico de la porción media de las unidades folículo sebáceas que afecta principalmente el ducto sebáceo. Comúnmente se encuentra de manera múltiple y se transmite en forma autosómica dominante; en algunos casos se presenta en un contexto no familiar y en otros puede ser solitario. La primera descripción del esteatocistoma múltiple (EM) muy probablemente corresponde a Jamieson en 1873. La forma solitaria de esteatocistoma fue descrito por primera vez en 1982 por Brownstein y existen pocos casos descritos en la literatura Presentamos un caso clínico de paciente varón joven con tumoración solitaria en cuero cabelludo que fue extirpado cuyo resultado histopatológico fue de esteatocistoma solitario.

Steatocystoma is a cystic hamartoma of the middle portion of the sebaceous follicular units that mainly affects the sebaceous duct. It commonly presents in multiple forms and is transmitted in an autosomal dominant manner; in some cases, it occurs in a non-familial context and in others it may be solitary. The first description of steatocystoma multiplex (MS) is most likely by Jamieson in 1873. The solitary form of steatocystoma was first described in 1982 by Brownstein and there are few cases described in the literature. We present a clinical case of a young male patient with a solitary tumor on the scalp that was excised and whose histopathological result was solitary steatocystoma.

Folliculosebaceous Cystic Hamartoma of the Eyelid

PURPOSE: Folliculosebaceous cystic hamartoma is a rare cutaneous hamartoma consisting of dilated folliculosebaceous units invested in mesenchymal elements. There is no report of folliculosebaceous cystic hamartoma case occurred in the eyelid. We report here on this case along with a review of the relevant literature. CASE SUMMARY: 72-year-old female visited for the complaint of a mass in right upper eyelid. The mass was 1.9 × 1.2 cm sized and palpated in the subcutaneous level of right upper eyelid. The mass was not tender and had hardness like rubber. It was covered by skin without adhesion but fixed on the upper tarsal plate. Turning the eyelid inside out, it was found that the upper tarsal plate was penetrated by the mass. There was no specific finding except both cataract by other ophthalmic examination. The paranasal sinus computed tomography finding was well demarcated 0.9 cm sized mass with calcification. The excisional biopsy was performed for diagnosis and treatment. In pathologic finding, various sized normal sebaceous lobules were connected with the dilated follicles through the sebaceous canal and formed infundibular structure. There were sclerosing collagen, adipose cells and vessels between follicles and sebaceous lobules. So it was compatible with folliculosebaceous cystic hamartoma. 18 months later, there was no recurrence and wound was clear. CONCLUSIONS: Folliculosebaceous cystic hamartoma of the eye lid is rare disease, and differential diagnosis is necessary in patient with mass of eyelid.

A Case of Giant Folliculosebaceous Cystic Hamartoma on the Forehead / 대한피부과학회지

No abstract available.

New surgical approach of retrorectal cystic hamartoma using transanal minimally invasive surgery (TAMIS) / Nova abordagem cirúrgica do hamartoma cístico retrorretal usando cirurgia transanal minimamente invasiva (TAMIS)

Introduction: Tailgut cysts or cystic hamartomas are rare developmental tumors of the pre-sacral space. Their true incidence is not well known but we must think on it when we have a patient with a multicystic uncapsulated tumor at presacral space. Tailgut cysts are often asymptomatic, and in other cases present with chronic perineal pain, constipation or rectal tenesmus. They must be treated to avoid complications such as infections (perianal fistula or abscess) and malignant degenerations (usually adenocarcinoma). Case report: One patient with anal pain was diagnosed with a perianal abscess. He was operated but at the second month review a MRI revealed a multilocular lesion in the presacral suggesting the presence of a retrorectal cystic hamartoma. An elective operation was performed by endoanal surgical approach using TAMIS. En bloc resection of the cyst was achieved with safe margins. The pathology result reported retrorectal cystic hamartoma. The patient was asymptomatic with no signs of recurrence in subsequent controls. Our experience, despite being based on one case, is evidence that TAMIS (Transanal Minimally Invasive Surgery) allows a minimally invasive dissection with similar benefits as the use of TEM/TEO devices. (AU)

Introdução: Tail gut cysts ou hamartomas císticos são tumores raros de desenvolvimento do espaço pré-sacral. Sua verdadeira incidência não é bem conhecida, mas devemos pensarnele quando temos um paciente com um tumor uncapsulated multicística no espaço présacral. Hamartomas císticos são muitas vezes assintomáticas, em outros casos, apresentase com dor perineal crônica, constipação ou tenesmo retal. Eles devem ser tratados para evitar complicações, como infecções (fístula perianal ou abscesso) e degenerações malignas (geralmente adenocarcinoma). Relato de Caso: Um paciente com dor anal foi diagnosticado com um abscesso perianal. Ele foi operado, mas na revisão do segundo mês uma ressonância magnética revelou uma lesão multilocular no pré-sacral, sugerindo a presença de um hamartoma cístico retrorretal. Uma operação eletiva foi realizada por abordagem cirúrgica endoanal usando TAMIS. A resseção em bloco do cisto foi conseguido com margens seguras. O resultado do exame patológico relatou hamartoma cístico retrorretal. O paciente encontrava-se assintomático, sem sinais de recidiva em controles posteriores. A nossa experiência, apesar de ser baseado em um dos casos, as provas que TAMIS (cirurgia transanal minimamente invasiva) permite um esvaziamento minimamente invasivo com benefícios similares como o uso de dispositivos de MET/TEO. (AU)

Tailgut cyst: An uncommonly diagnosed common entity - A case report and review of literature.

Tailgut cysts (TGC) though relatively common are rarely diagnosed and documented. Most of the times, they are misdiagnosed and mismanaged. When malignancy develops in TGC it is rarely attributed to it as it is undiagnosed earlier and later on there may not be any evidence left behind. We report one such case which was diagnosed though not preoperatively. Review of literature reveals only few such cases after the initial description by Hjermstad and Helwig in 1988. Surprisingly most of the reports especially the larger case series are by radiologists. Surgeons and pathologists have contributed very few cases. This case report is aimed at increasing the awareness about this entity so that it will be suspected, investigated properly and treated before development of complications like recurrent fistulae, ischioanal abscesses which increase the morbidity and life threatening complications like malignant change.

Folliculosebaceous Cystic Hamartoma in a Patient with Neurofibromatosis Type I

Folliculosebaceous cystic hamartoma (FSCH) is a rare cutaneous hamartoma composed of dilated folliculosebaceous units and mesenchymal elements. It presents as a papule or nodule usually on the face and scalp, rarely on the genital or trunk area. Histologically, FSCH shares several similar features to sebaceous trichofolliculoma. We report one case of FSCH misdiagnosed as a neurofibroma. He was a 38-year-old man with a neurofibromatosis type I and a nodule on his left earlobe was excised under the impression of neurofibroma. Pathological examination revealed FSCH. Although FSCH is clinically not distinctive, awareness of the lesion is important to differentiate papulonodular or cyst-like cutaneous lesions.

Tumores retrorrectales: revisión a propósito de un caso / Retro-rectal tumors: a case review of a case

Se realiza una revisión de la literatura médica nacional e internacional actualizada sobre el tema, a propósito del diagnóstico de un tumor quístico retrorrectal en una paciente de 15 años con antecedentes de operaciones anteriores por esta causa y enfermedad de 10 años de evolución. Tras la exéresis quirúrgica total y mediante estudio anatomopatológico, se concluyó el diagnóstico de hamartoma quístico retrorrectal.

A review of national and international medical literature was made on this topic related to diagnosis of retro-rectal cystic tumor in a patient aged 15 presenting backgrounds of previous surgeries by this cause, and a disease of 10 years of evolution. After total surgical exeresis and by means of anatomic-pathological study, it is included diagnosis of retro-rectal cystic hamartoma.

A Case of Giant Folliculosebaceous Cystic Hamartoma

Clinically, folliculosebaceous cystic hamartoma (FSCH) lacks distinct features, but it has been reported as an asymptomatic, 1- to 3-cm, dome-shaped nodule on the face. Histopathologically, FSCH is characterized by adnexal and folliculosebaceous cystic proliferation with various mesenchymal changes. This case presented an unusually large, small-fist-sized mass in the right mandibular area that was accompanied by intermittent itching. Histopathologic findings demonstrated appropriate features of FSCH. We present an interesting case of giant FSCH in a 48-year-old female.

A Case of Folliculosebaceous Cystic Hamartoma on the Right Nasal Ala

Folliculosebaceous cystic hamartoma is a rare cutaneous hamartoma comprised of follicular, sebaceous, and mesenchymal elements. It usually presents as an exophytic papule or nodule on the central part of the face. The histological findings are intradermal cystic structures lined by infundibular epithelium, numerous sebaceous lobules radiating from cystic structures and a surrounding stroma composed of mesenchymal changes, including variable proportions of fibrous, adipose, vascular and neural tissues. We herein report a case of folliculosebaceous cystic hamartoma in a 73-year-old man who presented with a skin-colored, dome-shaped papule on the right nasal ala.

A Case of Folliculosebaceous Cystic Hamartoma on the Labia Majora / 대한피부과학회지

Folliculosebaceous cystic hamartoma is a distinctive skin malformation, which presents as a solitary, smooth- surfaced, skin-colored papule or nodule. This hamartoma usually occurs on the central part of the face, particularly on the nose. In 1998, Bolognia et al. described a genital variant of folliculosebaceous cystic hamartoma, which has not been reported to date in Korea. We herein report a rare case of folliculosebaceous cystic hamartoma which occurred on the labia majora of a 28-year-old woman. Histopathologically, multiple, dilated, follicular, cystic structures were observed with numerous sebaceous lobules arising from its wall. There was an excess of fibrous components around these structures, which included small venules, adipocytes and neural tissue.

A Case of Folliculosebaceous Cystic Hamartoma

Folliculosebaceous cystic hamartoma (FSCH) is a recently-recognized cutaneous hamar- toma composed of follicular, sebaceous and mesenchymal elements. We describe an unusual case of FSCH in a 61-year-old male, who had a relatively large, 3x2.5cm sized, smooth subcutaneous nodule on the occipital area of the scalp, an uncommon location for FSCH.

A Case of Folliculosebaceous Cystic Hamartoma / 대한피부과학회지

Folliculosebaceous cystic hamartoma is a rare cutaneous hamartoma comprising follicular, sebaceous, and mesenchymal elements. This tumor usually presents during adulthood as an exophytic papule or nodule on the scalp or central area of the face. Histopathologic features are central cystic structures lined with infundibular epithelium, numerous sebaceous gland lobules radiating from cystic structures, and surrounding stroma composed of fibrillary bundles of collagen, small vessels, neural tissue and occasionally mucin deposits. We herein report a case of folliculosebaceous cystic hamartoma in a 21-year-old man who presented with a skin-colored, dome-shaped papule on the scalp.

A Case of Folliculosebaceous Cystic Hamartoma / 대한피부과학회지

Folliculosebaceous cystic hamartoma is a rare cutaneous hamartoma comprising follicular, sebaceous, and mesenchymal elements. This tumor usually presents during adulthood as an exophytic papule or nodule on the scalp or central area of the face. Histopathologic features are central cystic structures lined with infundibular epithelium, numerous sebaceous gland lobules radiating from cystic structures, and surrounding stroma composed of fibrillary bundles of collagen, small vessels, neural tissue and occasionally mucin deposits. We herein report a case of folliculosebaceous cystic hamartoma in a 21-year-old man who presented with a skin-colored, dome-shaped papule on the scalp.

A Case of Subcutaneous Folliculosebaceous Cystic Hamartoma / 대한피부과학회지

Folliculosebaceous cystic hamartoma(FSCH) is a rare cutaneous hamartoma of follicular, sebaceous, and mesenchymal elements. The tumor usually has sessile or pedunculated papule or nodule and occurs frequently in the center of face and sometimes on the scalp, ear, and trunk. We report a case of FSCH, which a 36-year-old woman presented as a subcutaneous nodule on the occipital area of scalp. Histologic examination of the nodule showed a central large cystic structure connected with numerous sebaceous lobules, and stroma consisted of delicate fibrillary bundles of collagen in concert with dilated capillaries and venules, as well as with adipocytes.

A Case of Folliculosebaceous Cystic Hamartoma on the Upper Back

Folliculosebaceous cystic hamartoma (FCH) is a recently recognized adnexal tumor and is composed of follicular, sebaceous and mesenchymal elements such as small vessels, adipocytes and neural component in the fibrous stroma. It usually presents as an exophytic papule or nodule on the central part of the face. We describe a 39-year-old woman with FCH on the right upper back, which is an unusual site. A biopsy specimen demonstrated a follicular structure in infundibuiar nature, sebaceous lobules attached to it, and compactly laminated fibrous stroma with an increased number of vessels in it. Immunohistochemically, many of the vessels in the stroma showed positive reaction for CD34, and Factor VIII.

Folliculosebaceous Cystic Hamartoma / 대한피부과학회지

Folliculosebaceous cystic hamartoma(FCH) is a rare tumor of characteristic clinical and histological features. Histological findings are intradermal cystic structures lined by infundibular epithelium, numerous sebaceous lobules radiating from cystic structures and surrounding stroma composed of mesenchymal changes including variable proportions of fibrous, adipose, vascular and neural tissues. We describe a case of FCH associated with perifollicular mucinosis, which is unusual finding.