Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms have been reported. The significance of the ...
Dyskeratosis CongenitaHematopoietic Stem Cell TransplantationHumansImmunosuppressionTelomere骨髓疾病角化不良先天性造血干细胞移植Excerpt DISEASE CHARACTERISTICS: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper...
Dyskeratosis congenita is a rare congenital disorder affecting mainly the integumentary system. It is a progressive disease with involvement of bone marrow. A triad of hyperpigmentation, nail dystrophy and leucoplakia are characteristic of this disease. DOI: http://dx.doi.org/10.3126/jnps.v33i...
A. Dyskeratosis congenita 1. Simultaneous presence of abnormal skin pigmentation, nail dystrophy and leukoplakia. 2. Presence of one of the mucocutaneous triad, bone marrow failure, and two of the other somatic features of DC. 3. Presence of two or more features seen in DC associated with ...
We describe a male patient with dyskeratosis congenita who, in addition to the classic triad, also suffers from usual interstitial pneumonia. He was treated with methylprednisolone but it is not clear whether this had an influence on the course of the disease....
Laser in situ keratomileusis (LASIK); Limbal stem cell deficiency; Ocular manifestations of graft- versus-host disease; Photorefractive keratecto- my (PRK); Small-incision lenticule extraction (SMILE); Telomeres INTRODUCTION Dyskeratosis congenita (DC) is a complex syn- drome of bone marrow failure...
Dyskeratosis Congenita – Report of a Case with Emphasis on Gingival Aspects A case of dyskeratosis congenita (DC) of an 11-year-old male is reported. He presented with the characteristic clinical triad of reticular pigmentation of ... SV Lourenço,PA Boggio,FA Fezzi,... - 《Pediatric Derm...
Introduction:Dyskeratosis congenita (DC) is a rare genodermatosis caused by mutations in various genes encoding the proteins responsible for maintaining the telomere length. It is defined by the presence of three clinical features: nail dystrophy, abnormal skin pigmentation, and oral leukoplakia.We ...
Dyskeratosis congenita DC is a severe inherited BM failure syndrome that is characterised by a triad of mucocutaneous features: abnormal skin pigmentation, leucoplakia and nail dystrophy, as well as by a variety of somatic features (Table 1). This disease is clinically and genetically heterogeneous...
Classical DC is an inherited bone marrow failure syndrome characterised by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia[1], [2], [3] (Fig. 1). A variety of other (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmi...