ABSTRACT
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.
Subject(s)
Humans , Clinical Coding , Hair , Keratin-17 , Neck , Skin Diseases , Steatocystoma Multiplex , Tooth , WillsABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Adult , Keratosis , Pachyonychia Congenita , Steatocystoma Multiplex , OnychomycosisABSTRACT
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
Subject(s)
Humans , Female , Cysts , Epidermal Cyst , Steatocystoma MultiplexABSTRACT
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.
Subject(s)
Humans , Female , Young Adult , Steatocystoma Multiplex/pathology , Sebaceous Glands/pathology , Suppuration , Biopsy , Hidradenitis Suppurativa/pathology , Rare Diseases/pathology , Diagnosis, Differential , Epidermal Cyst/pathologyABSTRACT
No abstract available.
Subject(s)
Humans , Asian People , Keratin-17 , Mutation, Missense , Steatocystoma MultiplexABSTRACT
Steatocystoma multiplex (SM) is an uncommon cutaneous disorder characterised by multiple intradermal cysts distributed over the trunk and proximal extremities. This condition affects both genders and is often inherited as an autosomal dominant trait, although sporadic cases have been described. This report describes the mammographic and sonographic features of the cysts, which presented as breast lumps, for evaluation. The cysts appeared as numerous well-circumscribed, radiolucent nodules with thin radiodense rims on mammography. On sonography, the cysts could be hypoechoic, isoechoic or demonstrate mixed echoes containing debris-fluid levels, depending on the amount of clear oily liquid and keratinous material. SM can be diagnosed based on a clinical setting of multiple asymptomatic small intradermal nodules over the trunk and proximal extremities, positive family history and imaging findings.
Subject(s)
Female , Humans , Middle Aged , Breast Diseases , Diagnosis , Diagnosis, Differential , Mammography , Methods , Steatocystoma Multiplex , Diagnosis , Ultrasonography, Mammary , MethodsABSTRACT
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.
Subject(s)
Humans , Young Adult , Atrophy , Buttocks , Cicatrix , Necrosis , Needles , Puberty , Skin , Steatocystoma Multiplex , Trichloroacetic AcidABSTRACT
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.
Subject(s)
Adult , Humans , Abdomen , Axilla , Cartilage , Extremities , Isotretinoin , Lasers, Gas , Needles , Steatocystoma MultiplexABSTRACT
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.
Subject(s)
Humans , Middle Aged , Alopecia , Epithelium , Hair , Scalp , Sebaceous Glands , Steatocystoma Multiplex , TrichotillomaniaABSTRACT
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.
Subject(s)
Adult , Female , Humans , Arm , Atrophy , Axilla , Cicatrix , Cryotherapy , Infusions, Intralesional , Lasers, Gas , Lymphangioma , Necrosis , Needles , Penicillin G , Picibanil , Recurrence , Retinoids , Sclerotherapy , Skin , Sprains and Strains , Steatocystoma Multiplex , Streptococcus pyogenesABSTRACT
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.
Subject(s)
Female , Humans , Middle Aged , Biopsy , Scalp , Steatocystoma MultiplexABSTRACT
As a benign adnexal tumor, steatocystoma usually occurs as an autosomal dominant condition known as steatocystoma multiplex. Steatocystoma simplex, the noninherited solitary counterpart of steatocystoma multiplex,was first described by Brownstein in 1982, and is exceedingly rare. We report a case of steatocystoma simplex in a 27-years-old female, who presented with an asymptomatic soft, oval shaped mass on the lower anterior neck. The lesion was completely excised and confirmed as steatocystoma simplex on histopathological examination.
Subject(s)
Female , Humans , Methylmethacrylates , Neck , Polystyrenes , Steatocystoma MultiplexABSTRACT
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.
Subject(s)
Adult , Female , Humans , Abdomen , Axilla , Cicatrix , Steatocystoma Multiplex , SyringesABSTRACT
O esteatocistoma múltiplo e o cisto veloso eruptivo apresentam-se como cistos torácicos múltiplos, assintomáticos.Possuem características histopatológicas distintas.Provável associação etiológica.Um mesmo cisto pode apresentar características histológicas de ambas as doenças. As duas doenças poderiam representar espectros diferentes de uma mesma entidade.
Subject(s)
Humans , Male , Middle Aged , Steatocystoma MultiplexABSTRACT
Steatocystoma multiplex is a hamartomatous malformation of the pilosebaceous junction. It is thought to be hereditary or non-hereditary and rarely occurs on the face. We report a case of steatocystoma multiplex located only on the forehead of a 98-year-old woman. Histologic examination revealed a folded cyst wall consisting of several epithelial layers and flattened sebaceous gland lobules close to the cyst wall, which are relatively typical findings of steatocystoma multiplex.
Subject(s)
Female , Humans , Forehead , Sebaceous Glands , Steatocystoma MultiplexABSTRACT
PURPOSE: Steatocystoma multiplex is a hamartomatous malformation of the pilosebaceous duct junction. It is not common and inherited in an autosomal dominant pattern. But numerous non-hereditary cases have been reported. The neck is an unusual site in steatocystoma multiplex. METHODS: A 23-year-old woman was found to have multiple yellowish papules, which had developed on anterior surface of her neck for 10 years. RESULTS: There was no similar lesions on any other parts of the body. Histopathological examination revealed an intricately folded cyst wall consisting of several epithelial layers and flattened sebaceous gland lobules close to the cyst wall, which were typical of steatocystoma multiplex. CONCLUSION: We describe an unusual case of steatocystoma multiplex localized on the neck.
Subject(s)
Female , Humans , Young Adult , Neck , Sebaceous Glands , Skin Neoplasms , Steatocystoma MultiplexABSTRACT
PURPOSE: Steatocystoma multiplex is a hamartomatous malformation of the pilosebaceous duct junction. It is not common and inherited in an autosomal dominant pattern. But numerous non-hereditary cases have been reported. The neck is an unusual site in steatocystoma multiplex. METHODS: A 23-year-old woman was found to have multiple yellowish papules, which had developed on anterior surface of her neck for 10 years. RESULTS: There was no similar lesions on any other parts of the body. Histopathological examination revealed an intricately folded cyst wall consisting of several epithelial layers and flattened sebaceous gland lobules close to the cyst wall, which were typical of steatocystoma multiplex. CONCLUSION: We describe an unusual case of steatocystoma multiplex localized on the neck.