Rothmund syndrome (rothmund-thomson syndrome; telangiectasia-pigmentation-cataract syndrome; ectodermal syndrome; congenital poikiloderma with juvenile cataract)

General: Autosomal recessive; more common in females (2:1); Werner syndrome in adults has certain similarities to this syndrome; inflammatory phase progresses to atrophy and telangiectasia; onset at age 3 to 6 months.

Ocular: Eyebrows may be sparse or absent; hypertelorism; cilia sometimes are diminished or absent; trichiasis; epiphora; cataracts (anterior subcapsular, posterior stellate, or perinuclear type); corneal lesions; retinal hyperpigmentation; keratoconus; strabismus; epibulbar dermoids.

Clinical: Poikiloderma; hypogonadism; hypomenorrhea; head deformity (enlarged with depressed nasal bridge as well as microcephaly); small stature, with short or malformed distal phalanges; aplasia cutis congenita (congenital absence of skin in one or more areas); alopecia.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Evers ME, et al. Oculo-ectodermal syndrome: a new case. Am J Med Genet 1994; 53:378-379.

Gardner J, Viljoen D. Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome. Am J Med Genet 1994; 53:317-320.

Rothmund A. Uber Katarakte in Verbindung mit einer eigentumlichen Hautdegeneration. Graefes Arch Clin Exp Ophthalmol 1868; 14:159.

Sri-Skandu-Rajah-Sivayoham I, Ratnaike VT. Rothmund-Thomson syndrome in an oriental patient. Ann Ophthalmol 1975; 7:417.

Thomson MS. A hitherto undescribed familial disease. Br J Dermatol 1923; 35:455.