Abstract
Development of multiple basal cell carcinomas is commonly associated with immunosuppression or genetic disorders. The latter include congenital diseases such as Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome. It is an autosomal dominant inherited disorder characterized by the development of multiple basal cell carcinomas at an early age and a variable combination of other phenotypic abnormalities that result in multiple organ involvement. The susceptibility gene was mapped to chromosome 9q22.3-3.1. Like other tumor suppressor genes, PTCH1 gene shows frequent deletion and a whole variety of other mutations. A high rate of new mutations and the variable expressivity of the condition make full diagnostic assessment difficult, especially in mildly affected individuals with no family history of the condition. It has been postulated that the presence of two major features or one major feature with two minor features classify a condition as Gorlin-Goltz syndrome.
We present a 42-year-old male patient with a 6-year-long history of multiple smooth and/or rough skin patches and plaques on the back and shoulders. Some of the lesions gradually progressed and increased in number without any sensation. Dotlike, flesh-colored and brownish pits were found on the patient’s palms. Further investigations revealed many musculoskeletal and craniofacial congenital abnormalities such as pectus excavatum, frontal and parietal bossing, exotropia, ectopic teeth (impacted tooth), mandibular hyperplasia, broad nose. Histopathological examination by light microscopy of biopsies taken from the nodular and patchy skin lesions showed findings typical for basal cell carcinoma. Family history revealed no members with similar health disorders.
The patient was treated for Hodgkin’s lymphoma with chemotherapy and radiation therapy 20 years before, with good therapeutic results, and no additional treatment was administered in the last ten years.
The treatment for multiple basal cell carcinomas included: 5% imiquimod cream, 5 days a week, for 12 weeks. After 12 weeks of treatment, the nodular lesion and all the superficial lesions cleared. One month later the lesions disappeared completely without any residual signs.
The patient was advised to use adequate photoprotection and to avoid future uncontrolled sun exposure. On follow-up visits during a three year period, no recurrent or new lesions indicative for BCC were seen. This is a case with late-onset multiple BCC in a patient with Gorlin-Goltz syndrome and a history of prior Hodgkin’s lymphoma. To the best of our knowledge hitherto only two cases of Hodgkin’s lymphoma in patients with Gorlin-Goltz syndrome have been reported in the literature. We also present therapeutic results of topical imiquimod for multiple basal cell carcinomas with no recurrent lesions over a three-year follow-up.
A Rare Case of Gorlin-Goltz Syndrome in Children
