Dyskeratosis Congenita

Dyskeratosis Congenita

“…This case very closely resembles the one reported by Costello & Buncke (11) which was also the result of consanguineous marriage and had bullous onset at birth. Similar observations of similarities to dystrophic epidermolysis bullosa have been reported in some other cases (5,11,14,15).…”

“…The scattered polyhedral islands enclosed by reticulate pigmentation consisted either of apparently normal or hypopigmented atrophic skin. These are characteristic of dyskeratosis congenita (11). An apparently similar reticulate pigmentation has been described in a new variant of epidermolysis bullosa simplex (16).…”

“…However, in the present case the disease began with bulla formation on the third day of life. In 4 cases the disease is reported to have begun at birth (5,(11)(12)(13); in only one of them by bulla formation (11). These bullae have been recurring and have been the most prominent and disabling manifestation in this patient.…”

Congenital Generalized Melanoleucoderma Associated with Hypodontia, Hypotrichosis, Stunted Growth and Mental Retardation Occurring in Two Brothers and Two Sisters

“…Dyskeratosis congenita [3][4][5][6][7] is another dysplasia which has certain features in common with our cases such as reticular pigm entation, poikiloderma-like lesions, hyperkeratosis of the palms and soles and some uretro-genital and mental underdevelopment. Thus far this disorder was encountered only in males.…”

Dyskeratosis congenita with linear areas of severe cutaneous involvement

“…However, cases of father-to-son transmission [Gasparini et al, 1985] and pedigrees in which females and males are equally affected suggest autosomal inheritance [Degos et al, 1969;Scoggins et al, 1971]. Autosomal dominant inheritance was posited for kindreds with affected males and females in consecutive generations (MIM 127550) [Gasparini et al, 1985;Nazzaro et al, 1972;Auerbach et al, 1979;Degos et al, 1969;Scoggins et al, 1971] and autosomal recessive inheritance (MIM 224230) for those in which there is consanguinity [Tchou and Kohn, 1982;Costello and Buncke, 1956;Fudenberg et al, 1979;Juneja et al, 1987;Pai et al, 1989a;Singh and Kolalapudi, 1986]. Drachtman and Alter [1995], after reviewing 215 cases of DC, noted mild phenotypic dissimilarities between different genetic types.…”