Contributor: Gordon K. Klintworth
Rothmund-Thomson syndrome (Rothmund syndrome, poikiloderma atrophicans vasculare, congenital poikiloderma, poikiloderma congenita, OMIM #268400) is a rare autosomal recessive inherited multisystem disease in which girls are affected more often than boys (16:5). The condition, which was first described in an inbred population in the Alps by the German ophthalmologist Rothmund, results from a mutation in the RECQL4. Cutaneous lesions are consistently found and begin during infancy (3-6 months) with the formation of red edematous plaques on the face and sometimes elsewhere (ears, extremities, buttocks). After the initial eruption a macular and reticular erythema, linear areas of telangiectasia, scarring, and hyper- and hypopigmentation appear and a poikilodermatous rash becomes apparent. The skin manifests photosensitivity and this may precipitate exacerbations of existing lesions and even bullous formation. The dermatosis results in a shiny atrophic skin with prominent telangiectasia. Atrophy of  the epidermis (rather than hypoplasia of the dermis [hypoplasia - dermis]) may produce linear brown pigmentation of the skin). Hair on the scalp, eyebrows, and eyelids may be sparse. Total alopecia develops on rare occasions. Bilateral cataracts [cataract] often form (~ 50% of cases), occasionally within the first few months of life, but more often by the age of 3-6 years. Band keratopathy [keratopathy - band] and aneurysmal dilatations [aneurysm] of the veins of the retina have been noted. Other abnormalities, which may be present in various combinations, include dystrophic nails, malformed teeth, bony defects (abnormalities of the skull, shortening of long bones, and asymmetric or absent bones), short stature, small hands or terminal phalanges, hypogonadism, and mental retardation. Affected individuals are prone to malignant neoplasms and especially osteosarcoma.