Familial eruptive syringoma in a Nigerian girl.

Familial eruptive syringoma (FES) is an uncommon clinical presentation of syringoma, a benign tumour of the intraepidermal portion of the eccrine sweat ducts. It is characterized by firm, smooth, skin-coloured to pigmented, discrete papules that appear as successive crops on the anterior body surface of individuals who also have one or more family member(s) with similar eruptive or localized lesions. The inheritance is autosomal dominant. Eight types of familial syringomas have been proposed, although the number of reported cases is quite few. We present a case of familial eruptive syringoma that could be classified as type 4 familial syringoma.

Multiple cystic disease: K17 dysfunction?

Our patient is a 29-year-old woman without any previous disease who presented with different kinds of lesions on her face, neck, and chest. She first noticed the lesions 10 years ago and, since that time, they have become more numerous. She has no affected relatives. On physical examination, she had multiple cystic lesions on her neck, chest, and vulva, which were between 0.3 cm and 1 cm and skin-colored or yellowish (Figure 1). She presented with small, white papules on her face measuring approximately 0.2 cm, localized on her forehead and cheeks. Some of these papules had a blueish appearance (Figure 2). She also presented clinically typical eruptive syringomas on her upper and lower eyelids and neck and multiple facial milia. Finally, a sacrococcygeal pilonidal cyst was diagnosed and surgically removed. Her nails and teeth were clinically normal. Biopsies of each kind of lesion were performed, with the following results: (1) neck cystic lesion: steatocystoma; (2) small, white facial papule: eccrine hidrocystoma; (3) blueish facial papule: apocrine hidrocystoma; and (4) small neck papule: syringoma (Figure 3). With these findings, our diagnosis was steatocystoma multiplex with multiple eccrine and apocrine hidrocystomas, eruptive syringomas, and sacrococcygeal pilonidal cyst.

Familial eruptive syringomas: case report and review of the literature.

BACKGROUND: Syringomas are benign neoplasms of eccrine origin. A clinical variant is eruptive syringomas, which presents as firm, smooth, yellow to pigmented papules that appear as successive crops on the neck, axillae, chest, abdomen, and/or periumbilical region. To our knowledge, there are only 10 published reports of familial eruptive syringomas. Herein we describe the eleventh report of familial eruptive syringomas, review the literature on this unusual presentation, and suggest a novel classification of familial syringomas based on our literature review. OBSERVATIONS: We report two cases of eruptive syringoma within a family. Eruptive syringomas were widely distributed on the trunk of a healthy 16-year-old female and her 19-year-old brother. Both the 19-year-old man and his mother also had infraorbital syringomas. CONCLUSION: Familial eruptive syringomas are a rare clinical entity that is likely autosomal dominantly inherited. Future reports of this unusual condition may provide further insight into the etiology of familial syringomas, and genetic analysis of cases may enable the causative gene mutation to be determined.

Autosomal dominant multiple syringomas linked to chromosome 16q22.

BACKGROUND: The condition of multiple syringomas is a common skin problem that begins in early adulthood and is characterized by the appearance of skin-coloured papules around the eyes. Previous reports have demonstrated that some cases of multiple syringomas are inherited in an autosomal dominant manner. OBJECTIVE: To identify the genetic factors involved in the development of multiple syringomas. METHODS: We recruited seven families including multiple family members with multiple syringomas. Our sample included 24 affected individuals and 11 unaffected individuals. We performed genome-wide single-nucleotide polymorphism screening for linkage analysis. RESULTS: Whole-genome screening and subsequent analysis revealed that all of the seven families were linked at a locus on chromosome 16q22. A significant logarithm of the odds score of 4.51 with theta of 0.00 confirmed the mapping result. The analysis of critical recombinants defined the locus as a 6.63 cM interval in which 143 genes could be identified. CONCLUSIONS: We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.

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.

Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma.

An 18-year-old man presented multiple asymptomatic reddish-brown papules with a segmental distribution pattern confined to the left side of the trunk. These lesions had arisen two years before while the rest of the integument was unaffected. His further medical and family history was unremarkable. Histopathology revealed the characteristic features of syringoma. Since familial occurrence of syringoma with autosomal dominant inheritance has been described previously, we propose that the clinical phenotype observed in this patient reflects a type 1 segmental manifestation of familial syringoma and, thus, a cutaneous mosaicism.

Hereditary syringomas: a case report.

Syringoma is a benign neoplasm of eccrine origin. Clinically, it is an eruption of small translucent-to-yellowish papules. These lesions are firm, smooth, and approximately 1-3 mm in diameter. They are most commonly found around the eyes and on the upper cheeks of middle-aged women. Lesions sometimes develop on the abdomen, axillae, penis, vulva, and scalp. Involvement of the scalp may be indistinguishable from nonscarring alopecia. Familial cases have been reported, and there is an increased incidence of syringoma in adults with Down syndrome. Eruptive syringoma, a separate entity, presents mostly in adolescents as clusters of numerous papules on the upper half of the body.

Siringomas eruptivos en mujer adulta / Eruptive syringomas in an adult woman

Presentamos el caso de una mujer de 38 años con siringomas eruptivos en el cuello y la pared anterosuperior del tórax, asintomáticos y aparecidos en brotes sucesivos en el curso de los dos últimos años. Se realizó biopsia de dos de las lesiones. El estudio histopatológico mostró un crecimiento glandular en la dermis papilar y reticular, con túbulos bilaminados, algunos de ellos dilatados y otros con forma de "coma", sin invasión de la hipodermis, signos de anaplasia ni cordones en fila india. Llevamos a cabo estudios inmunohistoquímicos frente a receptores de estrógeno y progesterona, que dieron resultados negativos. También se realizó estudio inmunohistoquímico frente a CEA y EMA. Éste último reveló el patrón típico de tínción de la lesión (luminal para CEA, capa perfórica para EMA). Nos encontramos ante un caso infrecuente tanto por la edad de presentación, como por la ausencia de expresión de receptores hormonales (AU)

[Familial syringoma: a rare clinical variant]. / Familiäre Syringome. Eine seltene klinische Variante.

Syringomas usually occur either sporadically in a periorbital localized or truncal eruptive form. We report on two families with very uncommon hereditary syringomas. Multiple syringomas developed in the periorbital area of affected patients in the first family while the face, neck, trunk, and extremities were involved in the second family. The lesions first appeared during puberty and their number and distribution varied among the family members. Autosomal dominant inheritance equally affecting both sexes appears most likely. The incidence of familial syringomas may be widely underestimated. For treatment, carbon dioxide laser yielded good results while an excellent cosmetic outcome was achieved on the face with a special surgical technique using a springaction microscissors.

Syringoma: a review of twenty-nine cases.

The purpose of our study was to identify the clinical characteristics, epidemiologic data and histologic features in 29 cases of syringoma with a duration of lesions prior to the observation between 1 and 25 years. Only one patient complained of moderate itching. In two cases the lesion was solitary, in another the papules formed a lichenified plaque. In six patients only the eyelids were involved and in two patients a symmetrical localization on the forearms was observed. The other 18 patients showed generalized syringoma, 16 with an eruptive onset, 6 of which were familial. One of our cases showed lesions mimicking urticaria pigmentosa and two patients were affected by Down's syndrome. In two cases, histopathology showed association between syringoma and a melanocytic naevus and in one patient with a solitary lesion a clear cell syringoma was observed.