Details

Autor(en) / Beteiligte

• dos Santos Moreira Gomes Eusébio, Mónica

Titel

Dermatological Manifestations Associated with Hereditary Renal Cell Carcinoma Syndromes - A Systematic Review

Ort / Verlag

ProQuest Dissertations & Theses

Erscheinungsjahr

2021

Quelle

ProQuest Dissertations & Theses A&I

Beschreibungen/Notizen

• Context:Hereditary renal cell carcinoma represents about 3 to 8% of all renal cell carcinomas.These syndromes affect all organs, being the skin one of the most frequently afflicted. The identification of these lesions and consequently these syndromes allows the integration of these patients and their families in a screening program, diagnosing and treating renal cell carcinoma as early as possible.Objective:Outline the dermatologic manifestations on renal cell carcinoma syndromes,summarising the other syndromic features.Data sources:A literature systematic review was performed using PubMed and Online Mendelian Inheritance in Man, including publications from January 2001 to April 2021. Our research focused on hereditary renal cell carcinoma with dermatological manifestations.Study selection: All titles and abstracts were reviewed, and articles with original information about hereditary renal cell carcinoma with dermatological features were included.Data synthesis:Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis and renal cell cancer,tuberous sclerosis complex, PTEN hamartoma tumour syndrome, BAP1 tumour predisposition syndrome, von-Hippel Lindau syndrome, and MiTF-associated cancer syndrome, have been identified and summarised. The skin manifestations most frequently associated with hereditaryrenal cell carcinoma are fibrofolliculomas, trichodiscomas, piloleiomyomas, hypomelanotic macules, skin angiofibromas, trichilemmomas and melanocytic BAP1-mutated atypical intradermal tumours. Renal cell carcinoma is also prevalent, and has a unique histology, recognised by World Health Organization classification of tumours of the kidney in 2016.Limitations: Limited original population-based studies and meta-analysis providing an accurate epidemiology and the absence of diagnostic criteria limiting the inclusion of these patients on the population-based studies and meta-analysis.Conclusions:Dermatological afflictions are in most cases, the first syndromic manifestation,providing an excellent vehicle for diagnosis. This skin manifestations can be nonspecific as the same lesion can occur as part of a sporadic non syndromic manifestation or have a macroscopic appearance similar to other syndromic features, or the same manifestation can occur in a different genodermatosis. However, the association of these lesions with kidney cancer should alert the clinician to the presence of a hereditary syndrome, which have implications in treatment and follow-up of the patients and their family members.