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.
Highlights
Café au lait spots (CALS) are cutaneous hyper pigmented flat macules or patches (>1 cm) that usually appear in childhood and tend to increase in number and size until puberty [1]
A single CALS is a common finding in Caucasian children (10-20%) [2], an increasing number is much less frequent: 6 CALS represent a threshold for the diagnosis of Neurofibromatosis type 1 [3,4]
The brother presented Keratocystic odontogenic tumor (KCOT) diagnosed at the age of 15, while the father presented KCOTs diagnosed at the age of 16, so that we hypothesized the presence of a “Gorlin syndrome with KCOTs only”, while a Basal cell carcinoma (BCC) was discovered on the father’s arm was after the dermatologic follow-up to determine whether this was just a sporadic skin tumor or the sign of a full phenotype
Summary
Café au lait spots (CALS) are cutaneous hyper pigmented flat macules or patches (>1 cm) that usually appear in childhood and tend to increase in number and size until puberty [1]. Precocious puberty, other endocrinopathies, polyostotic fibrous dysplasia Adenomatous colonic polyps, multiple malignancies (medulloblastoma, lymphoma, glioblastoma) Microcephaly, mental retardation, short stature Cardiac conduction defects, ocular hypertelorism, pulmonary stenosis, growth retardation, hearing loss Cobblestoning of the oral mucosa, gastrointestinal polyps, breast carcinoma, thyroid adenoma and cancer Oral papillomas, gastrointestinal polyps, Macrocephaly, vascular anomalies. Tumors (KCOTs) that were surgically removed and histologically evaluated Her family history brought both her brother and father to our attention because of the presence of KCOTs in all of them; they were tested for PTCH1 gene mutation under suspicion of Gorlin syndrome: diagnosis was made after the discovery of the same PTCH1 gene germline mutation (C.1348-2A>G). The brother presented KCOTs diagnosed at the age of 15, while the father presented KCOTs diagnosed at the age of 16, so that we hypothesized the presence of a “Gorlin syndrome with KCOTs only”, while a BCC was discovered on the father’s arm was after the dermatologic follow-up to determine whether this was just a sporadic skin tumor or the sign of a full phenotype
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