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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Bibliographic Details
Published in:Hereditary cancer in clinical practice Vol. 10; no. 1; p. 15
Main Authors: Ponti, Giovanni, Tomasi, Aldo, Pastorino, Lorenza, Ruini, Cristel, Guarneri, Carmelo, Mandel, Victor Desmond, Seidenari, Stefania, Pellacani, Giovanni
Format: Journal Article
Language:English
Published: London BioMed Central 29.10.2012
Springer Nature B.V
BMC
Subjects:
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
Café au lait spots
mutation
Neurofibromatosis type 1
Hereditary cancer syndrome
Genodermatoses
Nevoid basal cell carcinoma syndrome
ISSN:1897-4287, 1731-2302, 1897-4287
Online Access:Get full text
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Summary: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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ISSN:1897-4287
1731-2302
1897-4287
DOI:10.1186/1897-4287-10-15