Acral subcutaneous steatocystoma multiplex: a distinct subtype of the disease?

Steatocystoma multiplex (SM) is a hamartomatous malformation of the pilosebaceous duct consisting of dermal cysts filled with a sebum-like material. SM lesions are typically located in areas with sebaceous follicles, although atypical presentations involving sites lacking sebaceous follicles have exceptionally been described. We reviewed retrospectively a series of 32 histologically diagnosed SM observed in our department in the period 2006-2010, evaluating the kinds of lesions and their locations, and family history of SM and associated disorders, to focus on the clinical features of the acral subcutaneous variety of SM and to estimate its prevalence. We found five patients (four women and one man) with asymptomatic deep, skin-colored nodules on the flexor surfaces of distal upper extremities with a mean age at diagnosis and at disease onset of 32.5 and 26 years, respectively. The prevalence was 15%. All five cases were sporadic. The male patient had eruptive syringomas as an associated condition, together with a family history of this tumour. Acral subcutaneous SM may represent a distinct disease variety by virtue of its distinctive clinical features. Dermatologists should be aware of this form, which has to be included in the wide panel of diseases involving subcutaneous tissue.

Asociación de enfermedad de Fabry y siringomas eruptivos / Association of Fabry disease and eruptive syringomas

La enfermedad de Fabry (Anderson-Fabry) es una raro desorden por depósito lisosomal. Es una afección multisistémica debida a la ausencia o disminución de la actividad de la enzima Alfa galactosidasa A y el depósito secundario de globotriaocilceramida (GL3) en los lisosomas de los endotelios de diversos órganos, principalmente piel, riñón, corazón, sistema nervioso, entre otros y que librado a su evolución natural, causa una gran morbilidad y una reducción en la expectativa de vida en el orden de los 30 años en hombres y 20 en años en mujeres. La manifestación cutánea cardinal son los angioqueratomas dispuestos en el área en bañador (conocidos como angioqueratoma corporis diffusum). Se presenta un paciente de 46 años con enfermedad de Fabry con gran afección sistémica, muy escasos angioqueratomas y la presencia de siringomas eruptivos en abdomen inferior (área donde típicamente se localizan los angioqueratomas en Fabry) (AU)

Fabry disease (Anderson-Fabry disease) is a rare lysosomal storage disorder. It is due to the absence or low alfa galactosidaes A activity and the secondary deposit of (globotriaocil ceramide) GL3 in the lysosomes of the endothelias of several organs specially skin, kidneys, heart, central nervous systemamong others. It´s natural history tends towards a great morbidity and a reduction of life expectancy of around 30 years for men a 20 for women. It´smain dermatologic manifestation are the angiokeratomas in the bathing trunk area (known as angiokeratoma corporis diffusum). We here by presenta 46 year old patient with a severe Fabry disease , few angiokeratomas and eruptive syringomas over the bathing trunk area (AU)

Infiltrating syringomatous adenoma presenting as microcalcification in the nipple on screening mammogram: case report and review of the literature of radiologic features.

Infiltrating syringomatous adenoma (ISA) of the nipple, first described by Rosen in 1983 (Am J Surg Pathol, 1983, 7, 739-745), is a rare benign tumor that can be misdiagnosed as a malignancy. ISA is characterized by its specific location in the subareolar region, its distinct histologic appearance resembling sweat duct or syringomatous tumors, and its locally infiltrating growth. We describes a case of ISA of the nipple presenting as microcalcification that was found on screening mammography. We also reviewed previously reported radiologic features of ISA.

Eruptive syringoma in a patient with trisomy 21.

Syringomas are benign adnexal neoplasia that are classified into four main types, according to their clinical features and associations. Syringoma associated with trisomy 21 typically presents with a periorbital cutaneous involvement. We report an 18-year-old Chinese girl with trisomy 21, who presented with eruptive syringoma, an unusual generalised form involving her trunk and limbs. A histological examination was performed to confirm the diagnosis.

Eccrine syringofibroadenoma radiation treatment of an unusual presentation.

Benign skin diseases have seldom been treated with radiotherapy, unless resistant to other treatments. Eccrine syringofibroadenoma (ESFA) is a rare benign eccrine tumor. ESFA very rarely presents bilateral lesions, and seldom a nonsurgical treatment has been proposed. An exceptional case of bilateral ESFA of the foot is presented; radiotherapy was effective in treating both lesions with good cosmetic results.

Presentación de siringomas y liquen amiloide como dermatosis reactiva / Syringomas and Lichen Amyloidosus as a Presentation of Reactive Dermatosis

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Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex.

Syringoma is a benign neoplasm of eccrine origin. Clinically, it manifests as small skin-colored to yellowish soft papules usually localized around the eyes and on the upper cheeks of middle-aged women. Familial cases have rarely been reported and may be inherited as an autosomal dominant trait or result from either germ line or somatic mutations. Syringoma can coexist with various conditions, notably Down syndrome. Herein, we report a family with multiple syringomas affecting members of three following generations and describe in detail a 36-year-old woman and her 17-year-old son. In the latter, steatocystoma multiplex, which is regarded as a benign cystic neoplasm of the folliculosebaceous unit or a nevoid malformation differentiated in the direction of the sebaceous duct, was associated. Acral distribution of steatocystoma multiplex and its presentation as subcutaneous nodules in this patient were unique.

Clouston syndrome and eccrine syringofibroadenomas.

Clouston syndrome and eccrine syringofibroadenoma are uncommon disorders that have been reported together rarely and only before the discovery of the GJB6 gene for Clouston syndrome. This case reports eccrine syringofibroadenoma in a patient with genetically confirmed Clouston syndrome.

Niemann-Pick disease in association with syringocystadenoma papilliferum.

This report describes a solitary syringocystadenoma papilliferum, a rare skin tumor, in a 9-year-old boy who was known to have Niemann-Pick disease. To our knowledge, this association has not been described in the medical literature and this is the first report describing such association.

Pápulas en el dorso de los dedos de las manos / Papules on the Dorsum of the Fingers

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