Gorlin’s syndrome: Atypical case report

Abstract

Gorlin syndrome or basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC). This case was atypical due to appearance of lesions quite later in life.

Nevoid Basal Cell Carcinomata Mimicking Melanocytic Nevi: Case Report

“…To our knowledge, there are only 3 other reports in the literature of patients with NBCCS presenting exclusively with pigmented BCCs, and in 2 of these reports, the patients were nonwhite. 9,15,16 In both of our patients, all BCCs presented as dark brown papules resembling melanocytic nevi. This led to a delay in diagnosis and appropriate management and counselling.…”

“…To our knowledge, there are only 3 other reports in the literature of patients with NBCCS presenting exclusively with pigmented BCCs, and in 2 of these reports, the patients were nonwhite. 9,15,16…”

Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment

“…Immunomodulators, such as imiquimod, can lead to local inflammation and need to be applied on a limited area of the affected skin [ 23 ]. Systemic treatment includes oral retinoids (isotretinoin at doses of 0.5–1 mg/kg/day) or oral etretinate (0.5–1 mg/kg/day) in lesions of less than 1 cm as well as capecitabine (a systemic prodrug of fluorouracil) as palliative treatment [ 24 , 25 ]. Oral retinoids inhibit the development of new BCCs [ 24 ].…”

“…Systemic treatment includes oral retinoids (isotretinoin at doses of 0.5–1 mg/kg/day) or oral etretinate (0.5–1 mg/kg/day) in lesions of less than 1 cm as well as capecitabine (a systemic prodrug of fluorouracil) as palliative treatment [ 24 , 25 ]. Oral retinoids inhibit the development of new BCCs [ 24 ]. On contrary, radiation therapy can have possible deleterious effects on the local skin cancer recurrence risk or new tumor growth [ 13 ].…”