Dyskeratosis Congenita

Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans

“…The severe anaemia showed a favourable response to iron, after the teeth were extracted. The refractory anaemia with splenomegaly (Fanconi syndrome) sometimes described in dyskeratosis congenita [2] can be differentiated by its course.…”

“…Gahleri's [5] patient ('derm atopathia pigmentosa reticularis hypotrichotica et atrophica'), showed in addition to areas of reticular pigm entation, diffuse alopecia, onychodystrophy, atrophic areas on the hands, feet, elbows and knees, and keratosis of the lacrimal points. This can be a forme fruste of dyskeratosis congenita [2,11].…”

Dyskeratosis congenita Zinsser-Cole-Engmann Form with Abnormal Karyotype

“…The name of the disease is based on the concept formulated by Lenglet in 1903 who considered it a congenital anomaly of keratinization. Since the original description, various reports have appeared in the world literature in which the basic characteristics of the malady are constantly repeated [1][2][3][4][5][6][7]. In Spain, the first case was reported by O rbaneja and Iglesias in 1969 [7], The onset is between the ages of five and twelve.…”

Pke-Cancer and the Skin

“…Certain abnormal and inherited 31 COMMENT hypertrophies are also premahgnant, and neurofibromatosis is familiar, although the malignancies very rarely involve the skin. Dyskeratosis congenita (37,52), tuberous sclerosis (59,120,220), and the basal cell naevus syndrome are also premalignant. The latter has been referred to as the fifth phacomatosis, because of the retinal lesions which have been observed (110).…”