Phenotype correlation in basal cell naevus syndrome (BCNS): our experience

Tale progetto di ricerca ha lo scopo di confrontare le caratteristiche fenotipiche dermatologiche osservate in 2 gruppi di pazienti affetti da sindrome del nevo basocellualre (BCNS): 12 adulti e 4 bambini. Da tale confronto sono emersi dati molto interessanti nella popolazione pediatrica, come la precocità di esordio degli epiteliomi basocellulari (BCC), particolarmente frequenti nelle forme atipiche, ovvero BCC acrochordon-like e BCC localizzati in sedi acrali, il riscontro di tricoepiteliomi, mai descritti ad oggi come reperto associato alla BCNS e la presenza delle due varianti di pits palmo-plantari, rossi e bruni. Trattandosi di una patologia riconosciuta nell’ambito delle malattie rare, la nostra casistica è ridotta pertanto sono necessari ulteriori studi per capire meglio i meccanismi che sottendono a tali differenze. Tuttavia in letteratura lavori di confronto tra le differenti espressioni della BCNS nelle diverse epoche di vita sono scarsi e pertanto ci è sembrato interessante esporre i nostri risultati. Tale progetto è stato realizzato grazie alla collaborazione multidisciplinare dell’Ambulatorio delle Malattie Rare e del Centro Tumori Cutanei della Dermatologia, della Genetica Medica del Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale (DIMES) e della Chirurgia Orale e Maxillo-Facciale del Dipartimento di Scienze Biomediche e Neuro-Motorie (DIBINEM) dell’Università di Bologna.The purpose of this project of research is to analyse the dermatological phenotypic findings observed in 2 groups of patients affected by basal cell nevus syndrome (BCNS): 12 adults and 4 children. Very interesting data have emerged in the paediatric population, such as the early onset of basal cell carcinomas (BCCs), almost in atypical presentations, namely acronordon-like BCCs and acral- BCCs. In addiction we observed the trichoepitheliomas, never described before associated with the BCNS and the palmar-plantar pits, reds and browns. In the literature studies about the different clinical phenotypes of the BCNS comparing adults and children are rare. Unfortunately, we present a small sample size but BCNS is a very rare disorder. However, further studies are needed to better understand the mechanisms underlying such differences. This project is the result of a multidisciplinary collaboration of the Dermatology Unit (Rare Diseases Center and Cutaneous Tumors Center), Medical Genetics Unit and of Oral and Maxillofacial Surgery Unit of the University of Bologn

Infantile Hemangioma with Minimal or Arrested Growth and Isolated Spinal Dysraphism: A New or Underrecognized Entity?

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Papillomatous Erythematous Plaques of the Scrotum

We describe an uncommon case of papillomatous erythematous plaques of the scrotum

Papular Granuloma Annulare Mimicking Viral Warts

We report the case of a 29-year-old Caucasian male that presented to our clinic with a four-year history of having several small, shiny flesh colored/erythematous papular lesions confined to the dorsal surfaces of his fingers and hands bilaterall

Degos disease in three patients with a common systemic involvement

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Diagnostic efficacy of digital dermoscopy and clinical findings in thin melanoma of the lower limbs

The introduction of dermoscopy has improved the accuracy of diagnosis of melanoma. However, early stage melanoma can be difficult to diagnose. Eighty-nine cases of thin melanoma with a Breslow thickness â\u89¤1 mm located on the lower limb and diagnosed between 2008 and 2016 were assessed using 4 dermoscopic algorithms: (i) modified pattern analysis; (ii) ABCD rule of dermoscopy; (iii) 7-point checklist; and (iv) Men-ziesâ\u80\u99 method. Two groups of early stage melanomas of the legs were identified: â\u80\u9cdifficult to diagnose mela-nomasâ\u80\u9d (DDM) and â\u80\u9cnon-difficult to diagnose melano-masâ\u80\u9d (NDDM). In our series the dermoscopic features of DDM were difficult to differentiate from melanocytic naevi, and the reticular pattern was the most frequently observed. â\u80\u9cDepigmentationâ\u80\u9d was the only specific criterion associated with DDM. The sensitivity of diagnostic systems for thin melanomas of the lower limbs was lower than in previous studies. This result could be related to the lower mean Breslow thickness of the invasive melanomas in our sample and the high number of melanomas in situ. In conclusion, early stage melanoma of the legs may be difficult to detect at clinical examination or with dermoscopic examination alone. Focusing on depigmentation in dermoscopy associated with anamnestic features could be a useful tool to detect difficult thin melanomas. In addition, sequential dermoscopy is recommended for high-risk patients with previous melanomas or atypical mole syndrome