Oral Findings of Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. It has an autosomal, recessive inheritance and its signs begin at childhood. Essential dermatological alteration is poikilodermatosis. A large head with an frontal bossing and broad low nasal bridge has been described in patients with RTS. Bilateral juvenile cataract is a characteristic finding of patients with RTS. Most of the patients have been markedly short and the growth retardation has been proportionate. Mental retardation is a rare condition. An 11-year-old girl who had been previously diagnosed with RTS was consulted with a chief complaint of delaying in tooth eruption. Intraoral examination revealed median rhomboid glossitis in addition to hyperkeratotic tongue. This report aimed to not only present intraoral findings of RTS, but also to demonstrate the lingual findings of a patient with RTS. 1. Introduction Rothmund-Thomson syndrome (RTS) is an autosomal recessive dermatosis which comes into existence in infancy with a characteristic facial rush (poikilodermatous) [1–4]. RTS was first introduced by Rothmund in 1863. The form of RTS with a genetic trait, showing hypogonadism and without cataracts, was introduced in 1923 by Thomson as “Poikiloderma congenitale.” Those two similar syndromes were first mentioned as Rothmund-Thomson by Taylor in 1957 [1–4]. The diagnostic hallmark and heterogeneous clinical features include short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, and premature aging. RTS is extremely rare; although its exact prevalence is unknown, to date about 300 cases have been reported [1–4]. It is also suggested that RTS has a genetic trait [1, 4]. The first signs of RTS are of dermatological origin. The main dermatological alteration is poikilodermatosis, which is patch-like pigmentation which usually develops between the age of 3 and 6 months as erythema, with swelling and blistering on the face [1–4]. Ocular signs are accepted as minor signs specific to the Rothmund-type subset of RTS. Juvenile cataracts appearing bilaterally are a characteristic finding of the patient with RTS. They start rapidly and vision disappears within weeks. Other ocular findings are congenital glaucoma, corneal atrophy, colobomah atrophy in the iris and retina, microphthalmia, and photophobia [1–6]. Hypogonadism is evident in about 25% of patients with RTS. Additionally, the majority of