Zinsser-engman-cole syndrome (dyskeratosis congenita with pigmentation; cole-rauschkolb- toomey syndrome)

General: Variant of Fanconi familial aplastic anemia; recessively inherited with male linkage; consanguinity; onset between ages 5 and 13 years.

Ocular: Ectropion; chronic blepharitis; obstruction of lacrimal puncta; conjunctival keratinization; bullous conjunctivitis; epiphora; nasolacrimal duct obstruction; loss of lashes; cataract; glaucoma; strabismus; abnormal fundi.

Clinical: Congenital dyskeratosis with pigmentation of 'marble' conuration or 'gun metal' appearance; atrophic areas and telangiectasis; dystrophy of nails; vesicular and bullous lesions of oral cavity followed by ulceration; mucosal atrophy; leukoplakia; aplastic anemia; defect of teeth; physical and mental development may be retarded; tufts of hairs on the limbs; keratinized basal cell; papillomas on the trunk.

Cole HN, et al. Dyskeratosis congenita with pigmentation, dystrophia, unguis and leukokeratosis oris. Arch Dermatol Syphil 1930; 21:71.

Drachtman RA, Alter BP. Dyskeratosis congenita. Dermatol Clin 1995; 13:33-39.

Engman MF. A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syphil 1926; 13:685.

Joshi RK, et al. Dyskeratosis congenita in a female. Br J Dermatol

Zinsser F. Atrophica Cutis Reticularis cum Pigmentatione, Dystrophia Unguinum et Leukoplakia Oris. Ikonographia Dermat (Kyoto)