Multiple Infundibulocystic Basal Cell Carcinomas: Case Report of Unique Unilateral Presentation

Herman, Alysa R.; Busam, Klaus J.; Greenberg, Robert A.; Nehal, Kishwer S.

doi:10.1046/j.1524-4725.2003.29107.x

Cited by 6 publications

(6 citation statements)

References 20 publications

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“…Lesions strikingly similar to human basaloid follicular hamartoma (BFH) may develop . Human BFH has some common histopathological features with infundibulocystic BCC . The pits in our patient demonstrated basaloid buds emanating from the outer borders of the epidermal invaginations, but the BCCs removed were histopathologically variable, including nodular, infundibulocystic, pigmented, adenoid and superficial types.…”

Section: Discussionmentioning

confidence: 67%

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: 67%

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

et al. 2016

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“…Herman et al. 6 described multiple IBCCs with unique unilateral presentation on the face and one of our patients (patient 1) also had all the lesions confined to the right side of the body. The biological behaviour of IBCC seems to be less aggressive than that of other clinicopathological variants of BCC because most of the lesions remain small for a long time and show little tendency to ulcerate the epidermis 5…”

mentioning

confidence: 49%

“…IBCC is an uncommon variant of BCC and may be found as a sporadic lesion, or as a hereditary syndrome. The recent 5–7 and present reports have shown that patients may have multiple or even more than 100 lesions. The site of predilection is the face but the lesions could be seen on the scalp, neck, trunk, extremities and vulva 1,5–9 .…”

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confidence: 67%

Multiple hereditary infundibulocystic basal cell carcinomas: a distinctive genodermatosis

Choonhakarn

Meesingha

2006

British Journal of Dermatology

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and P < 0AE001, respectively). The comparison between SJS/TEN and EM did not show a statistical difference, although the mean value of sCD40L was higher in the former.Our results show that in SJS/TEN there is not only an intralesional involvement, but also a systemic activation of the CD40/CD40L system. In particular, the penetration and the diffusion of the triggering agent in genetically predisposed individuals may induce CD4+ T lymphocytes to release sCD40L. Thus, sCD40L may exert its immunological functions by interacting both with circulating CD40+ cells, amplifying the immune response to the whole mucocutaneous surface, and with immune and nonimmune CD40+ cells localized in tissue, contributing to the development of the lesions.Although our study suggests a role for sCD40L as a marker of activation in SJS/TEN, it was not possible to evaluate whether its serum concentrations reflect disease severity. Nevertheless, our data showed that the patients with wider dermalepidermal detachment had the highest levels of sCD40L.Furthermore, our results show that sCD40L was expressed to a greater degree in patients with EM than in controls. This finding suggests that this molecule could be considered a marker of activation also in EM, in which environmental agents, in particular viruses and other microorganisms, may induce a dysregulation of systemic immunity.Finally, possible implications regarding the therapy of SJS/ TEN arise from the present study. Because of the severity of the disease and the high mortality rates of SJS/TEN, new therapeutic agents may be researched. CD40/CD40L interactions are thought to play an important role in the pathogenesis of certain diseases, such as systemic lupus erythematosus (SLE), 6 rheumatoid arthritis 7 and systemic sclerosis. 8 Recently, pharmacological manipulation of this axis has been tried, with promising results both in animal models and in human SLE. 9,10 Although further studies are required, our finding that serum sCD40L concentrations and CD40L+ lesional cells 4 in patients with SJS/TEN are elevated suggests that inhibition of CD40/CD40L interactions could be a therapeutic target in SJS/TEN.

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“…To our knowledge, there have been five reports of such cases, two of which reported three pedigrees in sum total of multiple hereditary IBCC 10,11 . The other three reports are of multiple IBCC, either located on the face of a person infected with the human immunodeficiency virus, 12 around the mouth with a unilateral presentation, 13 or over the lines of Blaschko 14 …”

Section: Discussionmentioning

confidence: 99%

Cytokeratin expression patterns in multiple infundibulocystic basal cell carcinoma

Hida

Saga²,

Kimura

2011

Journal of Cutaneous Pathology

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Infundibulocystic basal cell carcinoma (IBCC) is a variant of basal cell carcinoma. Sporadic cases usually represent a solitary tumor and multiple IBCC is rare. There have been no reports in which the tumor differentiation is characterized immunohistochemically. We report a case of multiple IBCC which developed on a patient's scalp by performing histopathological and immunohistochemical examinations, using monoclonal antibodies against cytokeratins (CKs). A 76-year-old female had noticed multiple small papules on her scalp. She noticed that the tumors were growing when she underwent systemic chemotherapy for metastatic lung cancer. Routine histopathological specimens from skin biopsies revealed findings typical of IBCC. The tumor cells expressed CK14 and CK17. However, CK1 and CK10 were expressed only in a few cells in the inner area of the tumors. The present case is unique in two points. First, multiple tumors developed on the patient's scalp during the systemic chemotherapy for the lung cancer. Second, the tumor showed CK expression patterns characteristic to infundibular and trichilemmal epithelia.

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Multiple Infundibulocystic Basal Cell Carcinomas: Case Report of Unique Unilateral Presentation

Cited by 6 publications

References 20 publications

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

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

Multiple hereditary infundibulocystic basal cell carcinomas: a distinctive genodermatosis

Cytokeratin expression patterns in multiple infundibulocystic basal cell carcinoma

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