Rothmund‒Thomson syndrome with esophageal stenosis: a case report

Abstract

According to the literature, only two cases of RTS associated with esophageal stenosis have been described up to now. 2,3 The third case of RTS associated with upper cervical esophageal stenosis is presented here. Case report A 23-year-old male suffers from rash over the sun exposed areas and photosensitivity started during the first months of his life. He stated that his grandfather had the same problem. No consanguinity or blood incompatibility was reported. Skin examination demonstrated poikilodermatous rash on the face, neck (Figure 1), V zone and extensor surface of the arms and legs. Histopathology of the affected skin was consistent with poikiloderma. Eyelashes, eyebrows and scalp hair were normal. Punctate keratoderma was presented on both palms (Figure 2A). Skin biopsy taken from hyperkeratotic papules on palms showed an acanthotic epidermis with prominent granular layer, hyperkeratosis with focal parakeratosis, dilated vessels in the papillary dermis. Nails of hands (Figure 2B) and feet were dystrophic. Exophthalmos, keratoconjunctivitis sicca and blepharitis were also diagnosed. The skeletal survey was normal. Dental and neurological examinations revealed no abnormalities and his external genitalia were normal.