Type 1 segmental cutaneous leiomyomatosis

Abstract

Cutaneous leiomyomas are rare benign tumours of the skin, which present in multiple disseminated, segmental or solitary forms. The pathogenesis of segmental cutaneous leiomyomatosis is not yet fully known. Most recently two types of segmental manifestation of autosomal dominant inherited diseases were postulated. Type 1 reflects heterozygosity for the underlying mutation with a clinical picture similar to that in a non-mosaic phenotype. In type 2, loss of heterozygosity leads to homo- or hemizygosity with a pronounced segmental manifestation of lesions in the affected segment. In our patient the lesions were restricted to one segment and therefore she most probably has a type 1 segmental cutaneous leiomyomatosis.

Type 2 Segmental Manifestation of Cutaneous Leiomyomatosis in Four Unrelated Women with Additional Uterine Leiomyomas (Reed’s Syndrome)

“…Segmental cutaneous leiomyomatosis comprises two different types. Clinically, type 1 shows only lesions in a segmental area without any similar lesion on the integument [11] . In the more frequent type 2 segmental cutaneous leiomyomatosis, the segmental involvement is characterized by a more pronounced manifestation superimposed on the ordinary nonsegmental phenotype [12][13][14][15] .…”

Soft tumors in segmental fashion

“…The characteristic distribution of leiomyomas is in a group; but they can occur as linear, segmental, and zosteriform variants. A total of 80% of the lesions are multiple-the condition is termed “leiomyomatosis.” The occurrence of large number of leiomyomas is termed as “Myomatosis Cutis Miliaris.”[19] …”

Familial myomatosis cutis et uteri, segmental type 2

“…The lesions are restricted to one segment. [4] In type 2, loss of heterozygosity leads to homo- or hemizygosity, with a pronounced segmental manifestation of lesions in the affected segment. [1] This results in pronounced lesions superimposed on the disseminated tumors of the ordinary phenotype.…”