HX19 Robert J. Gorlin: a man for all syndromes

Abstract Robert J. Gorlin (1923–2006), affectionately known as ‘Bob’, was a true pioneer in medical science, whose contributions spanned oral pathology, dermatology and genetics. Born in Hudson, New York, he spent his childhood in Newark, New Jersey, and later graduated from Columbia University in 1943. After serving in the US Army, he pursued dentistry at Washington University School of Medicine, completing his degree in 1947, followed by a Master’s in Oral Pathology at the State University of Iowa. Gorlin’s evolution as a syndromologist was ignited in the 1940s when he attended a lecture by dermatologist Helen Curth on acanthosis nigricans. This skin condition’s malignant form, associated with gastric adenocarcinoma, fascinated him. It was the first recognized dermatosis linked to an underlying malignancy and inspired Gorlin’s lifelong dedication to uncovering syndromic connections. His interest in oral pathology and knowledge of mucocutaneous conditions led to the delineation of numerous dermatological syndromes, with numerous publications in the specialty. Among his many achievements, Gorlin–Goltz syndrome (naevoid basal cell carcinoma syndrome) stands out. First described in 1960 alongside dermatologist Robert W. Goltz, this syndrome became synonymous with Gorlin’s name. He meticulously detailed its features, including multiple basal cell carcinomas, odontogenic keratocysts (Gorlin cysts), palmar pits, skeletal anomalies and characteristic facial appearances. Molecular advances have since tied the syndrome to mutations in the PTCH1 gene on chromosome 9q and, more recently, the SUFU gene on chromosome 10q. Beyond his eponymous syndrome, Gorlin made remarkable observations, such as identifying Gorlin cysts as distinct odontogenic entities and Gorlin sign, the ability of some patients with Ehlers–Danlos syndrome to touch their nose with their tongue, as illustrated in Victor McKusick’s book Heritable Disorders of Connective Tissue. Bob Gorlin was more than an academic giant. He was a warm and approachable colleague, beloved for his empathy, humour and generosity. As Professor Sydney Gellis remarked, ‘When he gets down to the ovaries, he’s gone about as far as he can go’, capturing Gorlin’s expansive curiosity and expertise. As well as the legacy of the syndromes he has been associated with, he has left a blueprint for all clinical colleagues to take forward in their daily practice – empathy, humour and generosity of spirit.