Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome
Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albr...
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| Veröffentlicht in: | Hereditary cancer in clinical practice Jg. 10; H. 1; S. 15 |
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| Sprache: | Englisch |
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BioMed Central
29.10.2012
Springer Nature B.V BMC |
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| ISSN: | 1897-4287, 1731-2302, 1897-4287 |
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| Abstract | Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. |
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| AbstractList | Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. Abstract Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. Doc number: 15 Abstract: Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. |
| ArticleNumber | 15 |
| Author | Ruini, Cristel Ponti, Giovanni Pastorino, Lorenza Mandel, Victor Desmond Seidenari, Stefania Tomasi, Aldo Guarneri, Carmelo Pellacani, Giovanni |
| AuthorAffiliation | 2 Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy 3 Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo 71, Modena, Italy 1 Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo 71, Modena, Italy |
| AuthorAffiliation_xml | – name: 2 Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy – name: 3 Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo 71, Modena, Italy – name: 1 Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo 71, Modena, Italy |
| Author_xml | – sequence: 1 givenname: Giovanni surname: Ponti fullname: Ponti, Giovanni email: giovanni.ponti@unimore.it organization: Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 2 givenname: Aldo surname: Tomasi fullname: Tomasi, Aldo organization: Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 3 givenname: Lorenza surname: Pastorino fullname: Pastorino, Lorenza organization: Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa – sequence: 4 givenname: Cristel surname: Ruini fullname: Ruini, Cristel organization: Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 5 givenname: Carmelo surname: Guarneri fullname: Guarneri, Carmelo organization: Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 6 givenname: Victor Desmond surname: Mandel fullname: Mandel, Victor Desmond organization: Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 7 givenname: Stefania surname: Seidenari fullname: Seidenari, Stefania organization: Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia – sequence: 8 givenname: Giovanni surname: Pellacani fullname: Pellacani, Giovanni organization: Department of Surgical, Medical, Odontoiatric and Morphological Sciences, with Transplantation, Oncological and Regenerative Medicine interests, Division of Dermatology, University Hospital of Modena and Reggio Emilia, University of Modena and Reggio Emilia |
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| Cites_doi | 10.1371/journal.pone.0043827 10.1136/adc.57.8.631 10.1097/01.GIM.0000145045.17711.1C 10.3892/ol.2012.707 10.1288/00005537-197110000-00015 10.1001/archdermatol.2009.169 10.1001/archderm.1964.01600010044011 10.1002/humu.9317 10.17796/jcpd.35.1.r7t6t25372830426 10.1186/1897-4287-9-6 |
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| Keywords | Café au lait spots mutation Neurofibromatosis type 1 Hereditary cancer syndrome Genodermatoses Nevoid basal cell carcinoma syndrome |
| Language | English |
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| PublicationTitle | Hereditary cancer in clinical practice |
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| References | 405_CR8 G Ponti (405_CR13) 2012 WE Clendenning (405_CR12) 1964; 90 G Ponti (405_CR5) 2012 KS Nunley (405_CR3) 2009; 145 G Ponti (405_CR9) 2012; 4 RG Burwell (405_CR2) 1982; 57 RJ Gorlin (405_CR7) 1971; 7 L Pastorino (405_CR14) 2005; 25 VE Kimonis (405_CR6) 2004; 6 G Ponti (405_CR4) 2011; 9 JA Weston (405_CR10) 1971; 14 RJ Gorlin (405_CR1) 1971; 81 S Balasundram (405_CR11) 2010; 35 |
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| Snippet | Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type... Doc number: 15 Abstract: Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such... Abstract Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as... |
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| SubjectTerms | Biomedical and Life Sciences Biomedicine Café au lait spots Cancer Research Case Report Genodermatoses Hereditary cancer syndrome Human Genetics Neurofibromatosis type 1 Nevoid basal cell carcinoma syndrome Oncology PTCH1 mutation |
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| Title | Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome |
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