SG16 Basal cell naevus syndrome diagnosed in infancy

Abstract A 5-month-old boy was referred to our dermatology service for follow-up following a diagnosis of basal cell naevus syndrome (BCNS) in early infancy. Antenatal anomaly screening had identified bifid ribs, rib synostosis and macrocephaly. At birth, facial dysmorphism (frontal bossing, flat nasal bridge, low-set ears and a short neck) was noted, with palmar pits. Magnetic resonance imaging of the brain also demonstrated subependymal cysts and caudothalamic grooves bilaterally. The patient was subsequently diagnosed with laryngomalacia and underwent paediatric assessment for delayed gross motor milestones. Comprehensive investigations had been undertaken, with no abnormalities seen on microarray, echocardiogram, or ultrasound of the spine or abdomen. Further genetic analysis was sought, culminating in the detection of a heterozygous missense variant c.1778C>G, p.Pro593Arg in PTCH1. BCNS, or Gorlin–Goltz syndrome, represents a rare autosomal dominant disorder and is associated with heterozygous germline mutation of the patched-1 gene (PTCH1). Clinical findings consistent with BCNS upon first review in this case included bifid ribs and macrocephaly, consistent with two minor criteria. Early detection is essential for timely surveillance and reducing associated morbidity. As diagnostic delay of BCNS is frequently encountered, this case highlights some of the early clinical features of BCNS that may prompt genetic testing.