Zosteriform multiple leiomyomas

Smith, Corinne G.; Glaser, Dee Anna; Leonardi, Craig

doi:10.1016/s0190-9622(98)70602-4

Cited by 34 publications

(46 citation statements)

References 13 publications

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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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“…It typically presents as firm, reddish-brown or skincolored nodules, generally over the face, neck, trunk, and extremities. Its size may gradually increase and new lesions may arise [4,5]. Piloleiomyoma can present in a solitary or a grouped pattern.…”

Section: Discussionmentioning

confidence: 99%

A Case of Multiple Piloleiomyoma on the Shoulder, which is Mistaken for Keloid

Wee

Park

Jeong

et al. 2015

Arch Aesthetic Plast Surg

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“…[1] In Type I segmental leiomyomas, heterozygosity of postzygotic mutations leads to segmental skin lesions and in Type II segmental leiomyomas, postzygotic mutational events occur in heterozygous embryo leading to loss of heterozygosity, which in turn leads to predominantly segmental leiomyomas along with the normal phenotype of the disease. [3] The most common presentation includes reddish brown firm papulonodules, which may be discrete or coalescing to form plaques. [1] The extensor aspect of extremities and trunk being the most common sites.…”

Section: Discussionmentioning

confidence: 99%