An unusual case of preponderantly right-sided syringomas

Wilms, N. A.

doi:10.1001/archderm.117.5.308

Cited by 14 publications

(6 citation statements)

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“…leiomyomatosis [19, 20, 21, 22], syringomas [23], Hailey-Hailey disease [24], KID syndrome [25], multiple glomus tumors [26], dyskeratosis congenita [27], tuberous sclerosis [28]and disseminated superficial actinic porokeratosis [29]. …”

Section: Introductionmentioning

confidence: 99%

Segmental Manifestation of Darier Disease

2000

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Darier disease is an autosomal dominant disorder which may occasionally become manifest in a segmental form. Two clinical phenotypes with a different genetic background have been elaborated in recent years. More than 50 patients with isolated linear disease expression have been documented. In this phenotype the skin outside the segmental affection is absolutely normal. Such a phenotype is explained by a postzygotic mutation with somatic mosaicism which was labeled as type 1 manifestation of segmental forms in autosomal skin disorders. A patient with classical type 1 segmental Darier disease is presented. On the other hand, only 3 patients with Darier disease showing a segmental manifestation in combination with a diffuse distribution have so far been observed. These cases correspond to the recently described type 2 manifestation of segmental forms of autosomal dominant disorders. We describe a fourth patient with type 2 segmental Darier disease. The genetic explanation of such a phenotype is possible with the assumption that a germline mutation for the disease exists but, in addition, a postzygotic mutation is needed resulting in loss of heterozygosity. Hence, in a circumscribed region a homozygous or hemizygous state of the mutation is apparent which can explain the enhanced severity of the segmental manifestation.

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Section: Introductionmentioning

confidence: 99%

Segmental Manifestation of Darier Disease

2000

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“…This form is usually autosomal dominant, [9][10][11] but there are reports of unilateral or segmental syringomas with no family history. 12,13 As suggested, 8 these lesions may result from a postzygotic mutation that leads to somatic mosaicism and cannot be passed on to the next generation. Moreover, germ line mutations may occur.…”

Section: Discussionmentioning

confidence: 99%

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

Marzano

Fiorani

Girgenti

et al. 2009

The Journal of Dermatology

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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.

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“…Syringoma, either localized or generalized, usually appears symmetrically, not unilaterally (1). To the best of our knowledge, the previously reported cases of syringoma with unilateral distribution on the anterior trunk were a linear syringoma on the right side of the anterior chest and the right arm (4), an eruptive syringoma on the trunk and extremities with a preponderantly right-sided distribution (5), and a syringoma with papules in annular distribution on the right side of the abdomen (6). The present patient was thus the first reported case of unilateral syringoma on the left submammary region.…”

Section: Commentmentioning

confidence: 99%