Hiperpigmentación reticulada y aplasia medular

Servicio de Dermatología, Hospital Arnau de Vilanova, Valencia, España
Actas Dermo-Sifiliográficas 04/2013; 104(3):249–250. DOI: 10.1016/
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    ABSTRACT: Dyskeratosis congenita (DC) is an inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive. Disease pathology is believed to be a consequence of chromosome instability because of telomerase deficiency due to mutations in DKC1, TERC and TERT; in patients with DKC1 mutations, defects in ribosomal RNA modification, ribosome biogenesis, translation control or mRNA splicing may also contribute to disease pathogenesis. The involvement of telomerase complex components in X-linked and AD forms and the presence of short telomeres in DC patients suggest that DC is primarily a disease of defective telomere maintenance. Treatment is variable and complicated by the development of secondary cancers but, being a monogenic disorder, it could potentially be treated by gene therapy. DC overlaps both clinically and genetically with several other diseases including Hoyeraal-Hreidarsson syndrome, aplastic anaemia and myelodysplasia, among others and its underlying telomeric defect has implications for a broader range of biological processes including ageing and many forms of cancer.
    Clinical Genetics 03/2008; 73(2):103-12. DOI:10.1111/j.1399-0004.2007.00923.x · 3.93 Impact Factor
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    ABSTRACT: Dyskeratosis congenita (DKC) is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nails dystrophy and skin pigmentation. Oral and dental abnormalities may also be present. Most cases are X-linked autosomal dominant, but recessive forms have also been reported. This study describes herein a case in which the classic triad of signs was present, along with the development of leukoplakia in the buccal mucosa. Our patient, a 25-year-old man, presented with several characteristic systemic features of this condition, together with the following oral features: hypodontia, delayed dental eruption, short blunt roots, extensive caries, gingival inflammation and bleeding, loss of alveolar bone and buccal mucosa with leukoplakia and irregular ulcers. The patient was given full preventive care. The primary teeth were extracted under local anaesthesia. After establishing optimal oral health, oral hygiene instructions were given to the patient and he was rehabilitated with fixed and removable partial denture. Prosthetic treatments were carried out after establishing optimal oral health. This treatment option appears beneficial in this patient, resulting in rehabilitation of occlusion and less mechanical irritation to the oral mucosa.
    International Journal of Dental Hygiene 02/2010; 8(1):68-74. DOI:10.1111/j.1601-5037.2009.00364.x · 1.06 Impact Factor
  • Carcinoma espinocelular de la mucosa oral y pancitopenia en paciente con disqueratosis congénita no diagnosticada previamente. . 2000. Actas Dermosifiliogr 91 337-41.