Gorlin Syndrome Presentation and the Importance of Differential Diagnosis of Skin Cancer: A Case Report

Abstract

In a busy community practice, clinical skin findings can often be misinterpreted. Skin cancers can sometimes mimic rashes like psoriasis, eczema or prurigo nodularis in both appearance and symptoms. Gorlin syndrome is one such genetic syndrome, characterized by the eruption of multiple and early onset basal cell carcinomas (BCCs), which can be mistaken for a rash. We describe a 68-year-old female who presented to the dermatology office with a previous history of over 30 BCCs that had been previously biopsied and/or surgically removed. However, the patient had been lost to follow up for several years and had not been seen by a skin specialist. In the interim, she had been misdiagnosed as having eczematous or psoriatic lesions by primary care providers. Patients with Gorlin syndrome are even harder to diagnose as their skin cancers often do not possess the classic features associated with a basal cell or squamous cell carcinoma. When in doubt, and especially if failing topical therapy, patients presenting with dermatological lesions should be properly referred to a specialist for further assessment and workup.

Basal cell carcinoma in situ of the skin revisited: case reports of the superficial type and fibroepithelioma type of this in situ cutaneous neoplasm

“…Basal cell carcinoma, including those currently classified as superficial, have been observed to occur Dermatology Online Journal || Case Report with an acute eruptive onset of several tumors or the chronic development of multiple tumors or both. Specifically, these neoplasms have been noted in patients with a cancer-related genodermatosis (such as basal cell nevus syndrome, Bazex syndrome, epidermolysis bullosa simples-Dowling Meara subtype, myotonic dystrophy type I, oculocutaneous albinism, Rombo syndrome, and xeroderma pigmentosum), [62][63][64][65], a prior bone marrow transplant [66], a drug (lenalidomide)-related susceptibility [67], or an acquired immunosuppression (such as immunodeficiency from either human immunodeficiency virus infection [68] or agents to prevent rejection following a solidorgan transplant [69]). For most of these individuals, carcinoma-appropriate surgical management of their numerous skin cancers is not a feasible alternative.…”

Green multicomponent synthesis of pyrano[2,3-c]pyrazole derivatives: current insights and future directions

“…They accelerate reactions due to direct interaction with polar molecules and lead to shorter reaction times as well as increased yields making the process energy-efficient. 31,32…”

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

“…The syndrome is characterized by a multiplicity of symptoms, including various basal cell carcinomas, accompanied by skeletal, ophthalmologic, neurologic symptoms, and neoplasms. Gorlin syndrome affects 1 in 40 000-60 000 people [2]. Due to the syndrome's tendency to become aggressive and lead to development of malignant neoplasms, prompt diagnosis is the cornerstone of maximizing survival of affected patients.…”