Metastatic cylindrocarcinoma in Brooke‐Spiegler Syndrome – Report of a case and review of the literature

Pichler, Maria; Thuile, Tobias; Kluge, R; Puviani, Mario; Benedicenti, Francesco; Eisendle, Klaus

doi:10.1111/ddg.14227

Cited by 2 publications

(5 citation statements)

References 12 publications

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“…(E–H) Clown nose-like lesions nose as manifestations of genetic syndromes. (E) A 34-year-old woman with tuberous sclerosis (case 6 in Table 3 ); (F) a 40-year-old woman with multiple familial trichoepithelioma (case 5 in Table 3 ); (G) a 85-year-old woman with Brooke-Spiegler syndrome ( 11 ); (H) a 13-year-old girl with Tricho-Rhino-Phalangeal Syndrome in our department. (I–L) Primary skin disease of clown nose-like lesions.…”

Section: Resultsmentioning

confidence: 99%

Update of Clown Nose-Like Lesion, a Underrecognized Manifestation of Metastatic Malignancies and Genetic Cancer Predisposition Syndromes

et al. 2021

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Clown nose-like lesion refers to the manifestation of a reddish or skin-colored bulge on the tip of the nose or the manifestation of bulbous tip of the nose. More and more clinical cases show that clown nose-like lesion can also be the indication of some genetic syndromes, not just the manifestation of metastatic visceral tumor as it initially proposed. However, the clinical features of clown nose-like lesion indicated by metastatic malignancies, genetic cancer predisposition syndromes or primary diseases involving the nasal tip are lacking. In this study, patients with clown nose-like lesion in our clinical practices and from published literatures were collected and reviewed. We found that clown nose-like lesions caused by metastatic malignancies including lung cancer are often solitary and more common in male (24/31) older individuals (average age 62.3, ranging 40–78 years old). In addition, they usually appear for a short time, and are prone to be misdiagnosed as primary nasal diseases, leading to a poor prognosis (all patients with data available died within 4 months). Clown nose-like lesions associated with genetic cancer predisposition syndromes usually develop at a young age (mean age 15.3) with female preference (9/10). They are accompanied by multiple-systemic involvements, including low hair volume, developmental delay, cancer predisposition or neurological diseases. They show slow development and often positive family history (6/10). These two kinds of clown nose-like lesions are often asymptomatic, which delays the diagnosis and treatment of underlying malignancies or syndromes. In brief, the term of clown nose-like lesion is underrecognized, and should be updated. Clown nose-like lesions can serve as indicators to at least three categories of clinical issues: metastatic visceral tumors, genetic syndromes, and primary diseases involving the nasal tip. Increased awareness of clinical features of updated clown nose-like lesions can alert physicians to these underlying malignancies or syndromes, render earlier detection of associated medical issues, and allow for genetic counseling of family members.

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Section: Resultsmentioning

confidence: 99%

Update of Clown Nose-Like Lesion, a Underrecognized Manifestation of Metastatic Malignancies and Genetic Cancer Predisposition Syndromes

et al. 2021

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“…However, considering the lack of other clinical features typical of neurofibromatosis, the long-time history of multiple adnexal skin neoplasms, the positive family history and the histological findings, it was possible to correctly orient the diagnosis. Although skin neoplasms in BSS are usually benign, very few cases of malignant transformation have been described, [2][3][4][5]7,10,13,14 occurring approximately in 5% of the patients. 12 Malign evolution occurs in older patients with BSS, ranging from 50 to 80 years old.…”

Section: Discussionmentioning

confidence: 99%

“…Scalp seems to be the most commonly affected site. 5 Rapid growth, ulceration, bleeding and pain should be viewed with suspicion. 7,14 Moreover, salivary gland involvement is a condition that can be very rarely associated with BSS, with no more than 20 cases reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…Scalp seems to be the most commonly affected site. 5 Rapid growth, ulceration, bleeding and pain should be viewed with suspicion. 7 , 14 …”

Section: Discussionmentioning

confidence: 99%

“…2 Up to now, less than 50 cases of malignant evolution have been reported in literature. [3][4][5] Furthermore, an occasional association between cutaneous adnexal tumors and basal cell adenoma as well as adenocarcinoma of the parotid gland has been rarely described, with approximately 20 cases reported. [6][7][8][9][10] We report a case of BSS presenting with a malignant eccrine spiradenocylindroma, in a patient with previous history of parotid basal cell tumor.…”

Section: Introductionmentioning

confidence: 99%

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Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke Spiegler syndrome

et al. 2022

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Brooke-Spiegler syndrome is a rare disorder, characterized by the development of skin adnexal tumors, including cylindromas, trichoepitheliomas, spiradenomas. Although these neoplasms are benign in most patients, a malignant transformation can rarely occur. Furthermore, an occasional association between cutaneous adnexal tumors and basal cell adenoma as well as adenocarcinoma of the parotid gland has been rarely described, with approximately 20 cases reported. We report a case of BSS presenting with a malignant eccrine spiradenocylindroma, in a patient with previous history of parotid basal cell tumor.

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Metastatic cylindrocarcinoma in Brooke‐Spiegler Syndrome – Report of a case and review of the literature

Cited by 2 publications

References 12 publications

Update of Clown Nose-Like Lesion, a Underrecognized Manifestation of Metastatic Malignancies and Genetic Cancer Predisposition Syndromes

Update of Clown Nose-Like Lesion, a Underrecognized Manifestation of Metastatic Malignancies and Genetic Cancer Predisposition Syndromes

Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke Spiegler syndrome

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