When to suspect a supressor of fused homolog (SUFU)‐associated basal cell nevus syndrome

SUFU‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma

“…Since then, several reports have shown that individuals with SUFU mutations can be affected by a wide range of cutaneous and extracutaneous findings. 5,6,9,10 In this sense, the presence of multiple, pearly, skin-coloured or partially pigmented indolent papules, mostly in the nasolabial folds and periocular region, has been repeatedly reported in these cases (Table 1). 5,6,10 In general, biopsy specimens of these lesions showed well-differentiated basaloid tumours with follicular differentiation, scant stroma and the formation of small keratin-filled cysts, consistent with the diagnosis of iBCCs.…”

“…5,6,9,10 In this sense, the presence of multiple, pearly, skin-coloured or partially pigmented indolent papules, mostly in the nasolabial folds and periocular region, has been repeatedly reported in these cases (Table 1). 5,6,10 In general, biopsy specimens of these lesions showed well-differentiated basaloid tumours with follicular differentiation, scant stroma and the formation of small keratin-filled cysts, consistent with the diagnosis of iBCCs. 2,4,5,10 Schulman et al 4 proposed that, because of its downstream position in the Hh pathway, SUFU mutations could be less disruptive, and therefore, they are associated with these indolent and better-differentiated BCCs.…”

“…1,8 The SUFU protein inhibits the transcription factor Gli, acting as a tumour suppressor. 5 Certain clinical features, such as childhood medulloblastoma, the development of BCCs at an older age, or the absence of jaw keratocysts, have been reported to be more prevalent in patients with SUFU mutations. 1,6,8 Requena et al 3 reported the first description of MHIBCC, in which no other cutaneous or extracutaneous stigmata of classic BCNS were observed.…”

“…In this setting, the patient fulfils three diagnostic criteria of Gorlin syndrome. 5 Apart from the dermatological findings, a cerebral magnetic resonance imaging (MRI) performed because of dizziness, revealed two meningiomas, one of them frontobasal (21.5 mm) and the other located on the left convexity (17 mm). The same germinal pathogenic SUFU mutation was found in the mother.…”

“…3 More recent research has shown that germline mutations in Suppressor of Fused Homologue (SUFU), a negative regulator of the Hh pathway, can be identified in these patients and, what is more, they may share some additional features with classic BCNS. [4][5][6] Herein, we describe two patients with MHIBCC and certain typical findings of BCNS, in which a pathogenic SUFU mutation was identified. Furthermore, we propose additional clinical clues that may be useful for the diagnosis of SUFU-associated Gorlin syndrome.…”