(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" configuration 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 1994;130:520-522.
Zinsser F. Atrophica Cutis Reticularis cum Pigmentatione, Dystrophia Unguinum et Leukoplakia Oris. Ikonographia Dermat (Kyoto) 1906;219-223.