Linear Unilateral Basal Cell Nevus With Comedo-like Lesions

Horio, Takeshi

doi:10.1001/archderm.1978.01640130059017

Cited by 23 publications

(9 citation statements)

References 6 publications

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“…Linear unilateral BCNS is much rarer. It can manifest with skin lesions only or be associated with internal abnormalities . In both cases, the disorder is thought to represent a type 1 form of mosaicism, resulting from a post‐zygotic mutation.…”

Section: Discussionmentioning

confidence: 99%

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened

et al. 2016

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Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS. Histopathologically, there were different types of BCC. A heterozygous mutation (c.1234C>T, p.L412F) in SMO was detected in three BCCs but not in peripheral blood lymphocytes or the uninvolved skin. These were compatible with the type 1 mosaic form of BCNS. The p.L412F mutation was found experimentally to result in increased SMO transactivating activity, and the patient responded to vismodegib therapy. Activating mutations in SMO may cause BCNS. The identification of a gain-of-function mutation in SMO causing a type 1 mosaic form of BCNS further expands our understanding of the pathogenesis of BCC, with implications for the treatment of these tumours, whether sporadic or inherited.

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Section: Discussionmentioning

confidence: 99%

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened

et al. 2016

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“…The histological features consisted of solid strands and islands ofbasaloid cells, some in connection with comedo-like, dilated hair follicles. Therefore, the term "basaloid follicular hamartoma" is now understood to include three clinical types, a generalized type with systemic autoimmune disorders (1, 4-8), a linear unilateral type (2,(9)(10)(11)(12), and a solitary localized type (3,13,14).…”

Section: Discussionmentioning

confidence: 99%

Localized Basaloid Follicular Hamartoma

Kato

Ueno

Nakamura

1992

The Journal of Dermatology

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We report a 39-year-old Japanese woman with a 30 x 10 mm, skin-colored, soft, hairless, irregularly elevated plaque in the left retroauricular area. Histologically, it consistently showed features of atypical hair follicles; some showed immaturely developed basaloid epithelial islands invaginated with condensed stromal cells, and others were replaced or associated with solid strands, branching cords, or lace-like networks of undifferentiated basaloid cells. Although the clinical appearance of a typical localized basaloid follicular hamartoma is a plaque of alopecia, this case seems to be a variant, because the histological findings are so characteristic of the entity. The relationship of basaloid follicular hamartoma to other hair-follicle derived tumors is also considered.

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“…Almost all of the histopathologic variants of BCCs may be found in a single patient with NBCCS and are indistinguishable from those that appear on the skin of patients without the syndrome. Restricted distribution of carcinoma lesions has been previously described, in particular, as NBCCS with unilateral, linear, and even quadrant disposition (22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33). Lesions are usually papules and plaques; some of them are ulcerated and some are associated with comedones (22,24,27).…”

Section: Discusionmentioning

confidence: 99%