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.

Steatocystoma multiplex: A case report of a rare entity

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.

Diagnóstico molecular de paquioniquia congénita / Molecular diagnosis of congenital pachyonychia

La paquioniquia congenital (PC) es una genodermatosis poco frecuente, caracterizada por presentar queratodermia palmoplantar dolorosa y debilitante, uñas hipertróficas, hiperqueratosis folicular, quistes epidérmicos, leucoqueratosis oral y ocasionalmente hiperhidrosis, ronquera y dientes natales. Está asociada a mutaciones heterocigotas en los genes que codifican queratinas 6a, 6b, 6c, 16 y 17. Se presenta una familia con dos miembros en dos generaciones afectados por PC: un niño de 2 años de edad con alteración de la coloración, hiperqueratosis de las 20 uñas, con dolor periungueal, múltiples pápulas foliculares color piel en tronco y dientes natales y su madre, con alteración del esmalte dentario, distrofia hipertrófica de las 20 uñas, cromoniquia, queratodermia plantar dolorosa y múltiples esteatocistomas de distribución generalizada.En ambos, se realizó el diagnóstico molecular por secuenciación masiva de exoma clínico, el cual confirmó el diagnóstico clínico y permitió determinar inequívocamente el tipo de PC en el niño, motivo de ésta presentación.

Pachyonychia congenital (PC) is a rare genodermatosis characterized by painful palmoplantar keratoderma, hypertrophic nail dystrophy, follicular hyperkeratosis, epidermal cysts, oral leukokeratosis and, less commonly, palmoplantar hyperhidrosis, hoarseness and natal teeth. PC is caused by mutations in keratin 6a, 6b, 6c, 16 and 17 genes. We report a family with two members in two generations affected by PC: a two-year old boy, presenting abnormal pigmentation and hyperkeratosis of the 20 nails, perionychium pain, multiple skin-colored follicular papules on the trunk and natal teeth. His mother has dental enamel defects, hypertrophic dystrophy of the fingernails and toenails, chromonychia, painful plantar keratoderma and generalized steatocystoma multiplex. We performed the molecular diagnosis by clinical exome massive sequencing which allowed us to confirm the clinical diagnosis and to determine the specific type of PC in our patient.

Caso Clínico: Esteatocistoma Múltiple / Case Report: Multiple Steatocystoma

INTRODUCCIÓN: El Esteatocistoma Múltiple (EM), también denominado bocistomatosis o enfermedad poliquística epidérmica, es una patología cutánea poco frecuente con alta carga genética, que se caracteriza por la aparición de múltiples quistes, los mismos que son consecuencia de una alteración de los conductos de las glándulas sebáceas. Estos quistes pueden llegar a medir desde 1-2 milímetros hasta varios centímetros de diámetro. Es importante diferenciar el esteatocistoma múltiple con otras patologías como quistes eruptivos vellosos, quistes epidérmicos o lipomas para descartar síndromes cutáneos asociados a estas patologías. A nivel mundial no existen datos epidemiológicos del EM; se han reportado treinta casos en familias y varios casos esporádicos a nivel mundial. Generalmente se presenta entre la primera y segunda década de vida, con una mayor prevalencia en hombres. CASO CLÍNICO: Paciente femenina, de 26 años de edad, afrodescendiente, sin antecedentes personales o familiares de relevancia. Acudió a consulta externa de dermatología por presentar desde hace aproximadamente siete años, nódulos blanquecinos a nivel de axilas, cuello e hipogastrio, levemente pruriginosos, que aumentan en número y tamaño de manera progresiva. EVOLUCIÓN: La paciente fue sometida a biopsia de lesión en región axilar derecha, con reporte de anatomía patológica compatible con esteatocistoma múltiple, los cuales fueron extirpados quirúrgicamente. CONCLUSIONES: El esteatocistoma es una patología infrecuente, de la cual existen muy pocos estudios. Aunque se conoce su benignidad, es importante su diagnóstico diferencial, por su posible asociación a paquioniquia congénita, acné nódulo quístico, hipotricosis, hipertricosis, hidrosadenitis supurativa y poliposis gastrointestinal. Además se debe sospechar de esta enfermedad cuando exista un cuadro clínico con nódulos quísticos

BACKGROUND: Multiple Steatocystoma (MS), also called bocistomatosis or epidermal polycystic disease, is rare skin pathology with high genetic load, which is characterized by the appearance of multiple cysts, which are the result of an alteration of the ducts of the sebaceous glands. These cysts can measure from 1 - 2 millimeters to several centimeters in diameter. It is important to differentiate multiple steatocystoma with other pathologies such as villous eruptive cysts, epidermal cysts or lipomas to rule out cutaneous syndromes associated with these pathologies. There are no clear data about the epidemiology of MS; thirty cases have been reported in families and several sporadic cases worldwide. It usually occurs between the first and second decade of life, with a higher prevalence in men. CASE REPORT:A 26-year-old, female patient of African descent; without personal or family history. She came to the consult of dermatology for presenting approximately since seven years, whitish nodules at the level of armpits, neck and hypogastrium, slightly pruritic, increasing in number and size progressively. EVOLUTION:The patient underwent a biopsy of the lesion in the right axillary region, with a pathology report compatible with multiple steatocystoma, which were surgically excised. CONCLUSIONS:Steatocystoma is an infrequent pathology, of which there are very few studies. Although it is benignity is known, it is important to realize the differential diagnosis, for possible association with pachyonychia congenita, acne nodule cystic, hypotrichosis, hypertrichosis, hidradenitis suppurativa and gastrointestinal polyposis. In addition, this disease should be suspected when there is a clinical picture with cystic nodules

Esteatocistoma múltiple: reporte de caso / Steatocystoma multiplex: a case report

El esteatocistoma múltiple corresponde a una entidad cuya lesión elemental es el quiste cutáneo, lesión de carácter benigno y de muy baja frecuencia, en la mayoría de los casos su presentación es esporádico, originado en la unidad pilosebácea. Su principal diagnóstico diferencial corresponde al quiste velloso eruptivo. El diagnóstico se obtiene a través de la conjunción entre la clínica con la histopatología. Actualmente se dispone de varias alternativas para su tratamiento. En la literatura está descrita su asociación con el Síndrome de Gardner, el cual tiene un carácter autosómico dominante. Es posible encontrar: poliposis, osteomas, hipertrofía congénita del epitelio pigmentario de la retina y quistes cutáneo. Se presenta a continuación un caso de un paciente de sexo masculino de 17 años con un esteatocistoma múltiple.

Steatocystoma multiplex is a disorder of very low frequency whose principal characteristic is benign cutaneous cysts originating in the pilosebaceous unit. Most cases present sporadically. The differential diagnosis is principally eruptive villous hair cyst. Diagnosis is reached by considering both the clinical picture and the histology. There are several treatment alternatives. Its association with Gardner´s syndrome, an autosomal dominant trait, is described in the literature. It may be accompanied by polyposis, osteomas, congenital hypertrophy of the retinal pigment epithelium and cutaneous cysts. We present the case of a 17 year old male patient with steatocystoma multiplex.

A Case of Steatocystoma Simplex and Sebaceous Gland Hyperplasia of the Bilateral Lacrimal Caruncle

PURPOSE: A case of bilateral lacrimal caruncle steatocystoma simplex and sebaceous gland hyperplasia, which rarely occurs in the periocular area, is reported. CASE SUMMARY: A 42-year-old female presented with a bilateral caruncular mass, which had been growing for a few months. A physical examination revealed soft, non-tender, rounded masses and no other ophthalmic findings. Under local anesthesia, the masses were completely excised. In the histopathological examination, a cystic mass containing a sebaceous gland in the stratified squamous epithelium cyst wall was found. A hyperplastic sebaceous gland and a dilated sebaceous gland duct were also found. Steatocystoma simplex and sebaceous gland hyperplasia, respectively, were diagnosed. There was no recurrence or complication after excision. CONCLUSIONS: Steatocystoma simplex and sebaceous gland hyperplasia are benign tumors that rarely occur in the lacrimal caruncle. They can be diagnosed and treated by complete excision. Steatocystoma simplex and sebaceous gland hyperplasia should therefore be considered as differential diagnoses of a lacrimal caruncle mass.

Comparison of carbon dioxide laser versus high-frequency electroacupuncture in the treatment of steatocystoma multiplex: a self-controlled clinical study / 中华皮肤科杂志

Objective To compare the clinical efficacy and safety of carbon dioxide (CO2) versus high-frequency electroacupuncture based on the assistance of drilling and blunt dissection in the treatment of steatocystoma multiplex.Methods A randomized,self-controlled study was performed in 15 patients.The median line of the body served as the dividing line,and the lesions on the two sides of the median line of the body were randomly divided into 2 groups to be treated with CO2 laser or high-frequency electroacupuncture,which left micropathways into the cyst cavity.After the above treatment,contents in the cysts were squeezed out or drawn out with a mosquito clamp,and the cysts were bluntly dissected.The decrustation time,erythema subsiding time,adverse reactions and recurrence were compared among lesions at different sites or with different sizes.Results For the lesions at the same sites or with similar sizes after treatment,the decrustation time and erythema subsiding time were both significantly shorter in the CO2 laser group than in the high-frequency electroacupuncture group (both P ＜ 0.05).There were significant differences in the decrustation time and erythema subsiding time among lesions at different sites or with different sizes (all P ＜ 0.05).Mild pain occurred in the 2 groups,and no hematoma or secondary infection occurred.There were significant differences in the incidence of scar formation or pigmentation between the 2 groups (both P ＜ 0.05).During the follow-up of 6-18 months,relapse occurred in 1 patient in each group.Conclusion Compared with the high-frequency electroacupuncture,CO2 laser assisted by drilling and blunt dissection shows better efficacy in the treatment of steatocystoma multiplex,and it can remove lesions at various sites at one time.

Steatocystoma multiplex suppurativa: case report of a rare condition

Abstract Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. This is the first case of steatocystoma multiplex suppurativa reported in the Brazilian literature. Female patient, 23 years old, with papular and nodular cystic lesions that started in the armpits and groin, later spreading to the trunk, lower limbs, anticubital fossa, face and scalp. The presence of papular-nodular lesions associated with disseminated hidradenitis-like lesions in flexural areas and the histopathological diagnosis of steatocystoma defined the diagnosis of steatocystoma multiplex suppurativa.

Steatocystoma Multiplex Limited to the Vulva: Report of a Very Rare Case Successfully Treated by a Simple Surgical Method.

Aim: Steatocystoma multiplex (SM) is a rare malformation characterized by multiple cutaneous cystic lesions containing oily substance. SM has autosomal dominant mode of inheritance, though there are a significant number of sporadic cases reported as well. Characteristically, the lesions manifest around the time of puberty and are found on the sternal areas, face, trunk and scrotum. SM limited to the vulva is a very rare condition as there are only a five cases in the literature. Case: A 32-year-old woman presented with a 1 year-history of nodules, gradually increasing in size and number, on the labia majora. Similar lesions were not present on other parts of her body and family members. On physical examination, yellowish papules and nodules ranging in size from 2-15mm without punctum were present on the labia majora. Biopsy performed at the time revealed histological changes with steatocystoma multiplex. After a mini incision, evacuation of the cyst followed by the removal of the cyst wall was performed without complication. The lesions healed rapidly without scarring. The patient was followed by yearly controls. Recurrence was not observed until the fourth year of surgery. Smaller lesions were observed on previously untreated areas of vulva which were removed again successfully. Discussion: SM treatment is difficult. In addition to medical treatments including antibiotic and anti-inflammatory drugs and isotretinoin, there are different surgical treatments including total excision and grafting, cryotherapy and CO2 laser with limited success. Conclusion: This is a very rare case of SM limited to the vulva, simply and successfully treated by a simple surgical method, emphasizing the importance of cyst wall removal to achieve long time remission.

A Case of Steatocystoma Simplex of the Orbit

PURPOSE: Steatocystoma is a cyst that originates embryologically from hair follicles and usually occurs on the face, chest, back and axillae as multiple lesions and rarely occurs as a solitary lesion. We experienced a case of steatocystoma simplex that developed in the orbit and present our case with a brief review of the literature. CASE SUMMARY: A 44-year-old male presented with a history of palpable mass in the right inferomedial periorbital area that had been slowly growing for a few months. Physical examination revealed a non-tender, soft and round mass. Magnetic resonance imaging of the orbit showed 2.0 x 2.0 x 2.0 cm-sized mass in the right inferomedial orbit. We performed excisional biopsy of the orbital mass using transconjunctival approach. The pathological diagnosis was steatocystoma. There was no local recurrence during the postoperative follow-up. CONCLUSIONS: We experienced a rare case of steatocystoma simplex that developed in the orbit. Base on our results, steatocystoma simplex should be considered when diagnosing an orbital mass.

Pachyonychia Congenita Type II: A Case Report

Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic papules and history of natal teeth at birth.

A Case of Steatocystoma Multiplex Developed on the Labium Major / 대한피부과학회지

No abstract available.

A Case of Steatocystoma Multiplex Treated with Combination of Needle Aspiration and Trichloracetic Acid / 대한피부과학회지

Steatocystoma multiplex is a clinical condition characterized by numerous dermal cysts that have their origin in the pilosebaceous duct, which appear and grow at puberty. The cystic nodules range from 3 mm to 3 cm in size, and they are soft and freely movable. Although there are numerous reports of different treatment methods, the long-term management of steatocystoma multiplex remains to be difficult. We, herein, report on a case of 23-year-old man with steatocystoma multiplex on the buttock. He was successfully treated with dot peeling of 100% trichloracetic acid after aspiration of the oily contents without any complications, such as atrophy, scarring and skin necrosis. We report the combination therapy of needle aspiration and trichloroacetic acid peeling as new therapeutic modality for multiple steatocystoma multiplex.

A Case of Eyelid Steatocystoma

PURPOSE: To report a case of eyelid steatocystoma. CASE SUMMARY: A 65-year-old woman presented with a mass around the punctum in the right lower eyelid margin, which developed several years earlier. The mass was a light yellowish cystic nodule and there were no other ocular abnormalities. Under local anesthesia, the mass was completely excised. Histopathologic examination showed a cyst surrounded by stratified squamous epithelium and a sebaceous duct which entered the hair follicle, compatible with the diagnosis of steatocystoma. CONCLUSIONS: Steatocystoma should be considered as a differential diagnosis of a solitary cystic eyelid tumor.

Steatocystoma Multiplex Treated with a Suction-assisted Cartilage Shaver / 대한피부과학회지

Steatocystoma multiplex is a rare autosomal-dominant disorder characterized by asymptomatic multiple, skin-colored to yellowish nodules on the trunk, proximal extremities, and axillae. Although surgical excision is the most effective method, treatment is difficult when lesions occur in multiple numbers. Therefore, various treatments such as CO2 laser therapy, needle aspiration, and oral isotretinoin have been attempted, but results are variable. A 37-year-old man presented with multiple skin-colored subcutaneous nodules on the abdomen and both axillae. A histopathological examination was consistent with steatocystoma multiplex. The lesions were removed by dermal shaving with a suction-assisted cartilage shaver. It was an effective therapeutic method for multiple lesions with no significant adverse events. Herein, we report a case of steatocystoma multiplex treated with a suction-assisted cartilage shaver.

Steatocystoma Multiplex Confined to the Scalp with Concurrent Alopecia

Steatocystoma multiplex (SM) is an uncommon disorder of the pilosebaceous unit characterized by the development of numerous sebum-containing dermal cysts which rarely involves the scalp. Here, we report a case of a 50-year-old man with multiple cystic nodules and alopecic patches on his scalp. On histopathological examination, the folded cyst was found to be lined by stratified squamous epithelium, while flattened sebaceous gland cells were identified in the cystic wall. Pigment casts were present in the hair papillae and perifollicular regions, suggesting trichotillomania as a possible cause of the observed alopecia. This case appears to represent an unusual clinical manifestation of SM.

Successful Treatment of Steatocystoma Multiplex with OK-432 Sclerotherapy / 대한피부과학회지

Steatocystoma multiplex is a hamartomatous malformation of the pilosebaceous junction and this manifests as multiple, asymptomatic, yellowish or skin-colored cystic papules and nodules located most commonly on the upper anterior portion of the trunk, upper arms and axillae. Various treatment methods such as radical excision, simple surgery, CO2 laser, cryotherapy, needle aspiration and oral retinoids have been reported, but there is currently no standard treatment. OK-432 is a biological preparation consisting of lyophilized powder containing Streptococcus pyogenes Su strain cells (group A, type3) that were treated with benzylpenicillin potassium. This has been used for sclerotherapy in patients with lymphangioma. We herein report on a case of 36-year-old female with steatocystoma multiplex on the trunk and axillary area. She was successfully treated with intralesional infusion of OK-432 after aspiration of the oily contents without recurrence or any complications such as scarring, atrophy and skin necrosis. We suggest that this sclerotherapy is a cosmetically acceptable treatment option for the multiple lesions of steatocystoma multiplex.

A Case of Steatocystoma Multiplex Limited to the Scalp

We report here on a 63-year-old woman who had several small, yellowish papules on the scalp for the previous 2 years. There was no family history of similar lesions. Yellowish, creamy material was expressed from a papule during punch biopsy. Histologic examination from the lesion revealed the typical features of steatocystoma multiplex. We report here on this rare variant of steatocystoma multiplex that was limited to the scalp.

A Case of Steatocystoma Mixed with Milia on the Face / 대한피부과학회지

A 23-year-old man presented with two asymptomatic, yellowish papules surrounded with several whitish papules localized on the right cheek. Gross findings of the whitish lesions corresponded with milia. Histopathologic examinations of yellowish lesions revealed folded cyst walls consisting of several layers of epithelial cells, which were consistent with the diagnosis of steatocystoma. This case could be further proof steatocystoma and milia originate from the same pilosebaceous unit. It is important to differentiate steatocystoma from milia for less scarring after surgical treatment.

Treatment of Steatocystoma Multiplex on Whole Body: A Case Report

PURPOSE: Steatocystoma multiplex is a rare benign disease that occurred multiply on whole body surface. Many physicians have tried managing steatocystoma in variable methods. However it is hard to define the optimal way to cure steatocystoma. We performed both aspiration and excisional method to study the usefulness of both methods. METHODS: A 28-year-old woman has asymptomatic multiple subcutaneous nodules on whole body. Most lesions were aspirated with 26-guage needled 3cc syringe but large and purulent three nodules were excised. RESULTS: We diagnosed the lesion histologically as steatocystoma multiplex. Aspirated wound healed without scar, excised wound remained scar but esthetically acceptable. Axillary lesion contained so clustered type cysts that was difficult to aspirate whole cyst. Thus additional excisional method was needed. CONCLUSION: There are many practical methods to cure steatocystoma. However, there is no appropriate method to cure it. Therefore we should select different therapeutic method according to anatomical location and cyst size. Especially at subcutaneous fat-rich lesion like axilla and abdomen, it is better to excise the clustered cyst than to aspirate.