Dyskeratosis congenita presenting with dysphagia. Indian Dermatol Online J 2016;7:275-7 How to cite this URL: Gupta K, Tripathi S, Agarwal N, Bareth A. Dyskeratosis congenita presenting with dysphagia. [idoj.in]

Those presenting with AA or MDS or pulmonary fibrosis associated with a pathogenic telomerase mutation. [nature.com]

Some patients with the same genetic abnormality responsible for dyskeratosis congenita may present with bone marrow failure only. [rarediseases.org]

The signs and symptoms of Dyskeratosis Congenita vary among those affected, due to the specific genetic mutation present/involved. Some have mild signs and symptoms, while others have severe presentations. [dovemed.com]

• Short Stature

  These include: Hoyeraal–Hreidarsson syndrome – very short stature, bone marrow failure, immunodeficiency, underdeveloped cerebellum idiopathic aplastic anaemia ( anaemia due to bone marrow failure) myelodysplasia (bone marrow failure) idiopathic pulmonary [dermnetnz.org]

  Developmental delay, learning disabilities, short stature, and microcephaly are also reported. [dermatologyadvisor.com]

  Other features that may present include: epiphora, developmental delay, pulmonary disease, short stature, poor dentition, esophageal stricture, premature hair loss and an increased risk for a variety of malignancies. [genedx.com]

  stature, liver disease, underdeveloped testes (hypogonadism), failure of the testes to descend into the scrotum, and skeletal abnormalities. [rarediseases.org]

• Lacrimation

  He was also referred for ophthalmologic evaluation which revealed lacrimal duct stenosis. [nigeriamedj.com]

  Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are important features. [disorders.eyes.arizona.edu]

  […] due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers, and predisposition to cancer. [en.wikipedia.org]

  Ophthalmology consultation is important as per DC patients are at risk for conjunctivitis, retinopathy, blepharitides, pterygium, and epiphora due to lacrimal duct stenosis. [ijcasereportsandimages.com]

  Similar changes on the tarsal conjunctiva may obliterate the lacrimal puncta, resulting in epiphora, soreness and scarring of the lids. [ibimapublishing.com]

• Excessive Tearing

  Other disease manifestations can include epiphora (excessive tear production), intellectual disability, pulmonary fibrosis, abnormal pulmonary vasculature, tooth loss or decay, premature hair loss or greying, liver disease, osteoporosis, and deafness. [dnatesting.uchicago.edu]

  A proposed modification of the definition is: One or more features of the classic mucocutaneous triad Bone marrow failure, such as aplastic anaemia Two or more of the other internal changes known to occur in dyskeratosis congenita: eyes – excessive tears [dermnetnz.org]

• Osteoporosis

  It is variably accompanied by premature greying, aplastic anaemia, low platelets, osteoporosis, pulmonary fibrosis and liver fibrosis. Early death is due to bone marrow failure, infections, fatal pulmonary complications or cancer. [medical-dictionary.thefreedictionary.com]

  Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. [uniprot.org]

  Other disease manifestations can include epiphora (excessive tear production), intellectual disability, pulmonary fibrosis, abnormal pulmonary vasculature, tooth loss or decay, premature hair loss or greying, liver disease, osteoporosis, and deafness. [dnatesting.uchicago.edu]

  Liver failure, testicular atrophy, pulmonary fibrosis, aplastic anemia, and osteoporosis along with features of aging such as premature grey hair and loss are typical. [disorders.eyes.arizona.edu]

  But common variables include premature aging, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis and hepatic fibrosis, among others. [ivami.com]

• Long Arm

  The specific mutations include: DKC1 gene Telomerase RNA gene TERC on the long arm of chromosome 3 Telomerase TERT on the short arm of chromosome 5 TINF2 gene on the long arm of chromosome 14 NOP10 (NOLA3) gene on the long arm of chromosome 15 NHP2 (NOLA2 [dovemed.com]

  Mutations in genes Nop10, located on the long arm of chromosome 15 (15q14-Q15) and NHP2 gene, located on the long arm of chromosome 5 (5q35.3), give rise to two variants of the disease called dyskeratosis autosomal recessive congenital 1 (DKCB1) and dyskeratosis [ivami.com]

  The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). [ncbi.nlm.nih.gov]

• Premature Graying of the Hair

  Other cutaneous findings include alopecia of the scalp, eyebrows, or eyelashes, premature graying of the hair, adermatoglyphia and hyperhidrosis. Other eyelash abnormalities may include sparse eyelashes, trichiasis, ectropion or entropion. Figure 1. [dermatologyadvisor.com]

• Psychomotor Retardation

  2 Mental Retardation, X-Linked 58 1 Mental Retardation, X-Linked 63 3 Mental Retardation, X-Linked 72 3 Mental Retardation, X-Linked 9 2 Mental Retardation, X-Linked 90 3 Mental Retardation, X-Linked 93 2 Mental Retardation, X-Linked 96 1 Mental Retardation [preventiongenetics.com]

• Learning Difficulties

  Affected children are small and have severe learning difficulties in addition to the other features of DC. How is it inherited? Currently, 12 genes are known to be associated with dyskeratosis congenita. [dcaction.org]

  difficulties, developmental/mental retardation, ataxia (unsteadiness), underdeveloped cerebellum, microcephaly (small brain), deafness lungs – pulmonary fibrosis (scarring), abnormal blood vessels bones – osteoporosis (thin bones), aseptic necrosis [dermnetnz.org]

[…] agents or emollients may be the only treatment required. [slideshare.net]

Treatment Treatment Options: Treatment for DKC with hematopoietic stem cell transplantation can be curative but its long-term efficacy is poor. Some advocate androgen therapy first. [disorders.eyes.arizona.edu]

Appropriate treatment includes prompt laser photocoagulation to areas of retinal nonperfusion. [kclpure.kcl.ac.uk]

Multidisciplinary management is critical for these patients for both screening and treatment of associated medical conditions (Table 1). [ijcasereportsandimages.com]

TREATMENT AND PROGNOSIS • Treatment of the warty dyskeratoma consists of conservative excision. • The prognosis is excellent; these lesions have not been reported to recur, and they have no apparent malignant potential. 30. [slideshare.net]

What is the Prognosis of Dyskeratosis Congenita? (Outcomes/Resolutions) The prognosis of Dyskeratosis Congenita depends on the severity of the signs and symptoms. [dovemed.com]

Because of the complexity and because multiple organs are severely impaired the prognosis of children diagnosed with Hoyeraal-Hreidarsson syndrome is usually poor. [rarediseases.org]

Classification and etiology of the aplastic anaemias. Clin Haematol 1978; 7:431–465. PubMed Google Scholar 3. Windass B, Vowels MR, O’Gorman Hughes D. Aplastic anemia in childhood: Prognosis and approach to therapy. Med J Aust 1987; 146:15–19. [link.springer.com]

[…] oral carcinoma ( 10972098, 8060104 ) laryngeal carcinoma ( 20198396 ) Associations idiopathic pulmonary fibrosis ( usual interstitial pneumonia - UIP) ( 11641517, 9701856, 18370353, 17392301, 15945534 ) noncirrhotic portal hypertension ( 12925870 ) Etiology [humpath.com]

Dyskeratosis Congenita with Portal Hypertension of Unknown Etiology Neelam N Redkar***, Dharmendra B Pandey**, HR Jerajani****, Rupal Padhiyar**, Aniruddha Dhokare* *Junior Resident, **Lecturer, ***Associate Professor, ****Professor, Department of Medicine [japi.org]

Dyskeratosis congenita with portal hypertension of unknown etiology. J Assoc Physicians India. 2011; 59:260-3. 8. Oslen TG, Peck GL, Lovogrove RH (1981). Acute urinary tract obstruction in dyskeratosis congenita. J Am Acad Dermatol; 4:556-60. [ibimapublishing.com]

(Etiology) According to current scientific research, mutations associated with six genes have been linked to Dyskeratosis Congenita. [dovemed.com]

TELOMERES IN EPIDEMIOLOGY STUDIES The association of telomere length in surrogate tissues, such as blood or buccal cell DNA, and disease has been evaluated in numerous epidemiologic studies. [nature.com]

A study in patients with DKC has shown changes in the CpG sites affiliated with the internal promoter region of the PR domain, specifically containing 8 (PRDM8) when compared with healthy control groups. [25] Epidemiology Frequency DKC is estimated to [emedicine.medscape.com]

This work was supported, in part, by the intramural research programs of the Division of Cancer Epidemiology and Genetics and the Center for Cancer Research, National Cancer Institute, National Institutes of Health. [bmchematol.biomedcentral.com]

It may also shed light on epidemiologic phenomena of telomere shortening being linked to mortality due to age-associated diseases ( 29 ). [pnas.org]

Pathophysiology [ edit ] Dyskeratosis congenita is a disorder of poor telomere maintenance [4] mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed ribosomopathy. [en.wikipedia.org]

Etiology Pathophysiology DC is a bone marrow failure syndrome that appears to be caused by mutations in genes that regulate telomere maintenance. The consistent feature in all patients with DC is abnormally shortened telomeres. [dermatologyadvisor.com]

Genet. 65 50 58 CrossRef Google Scholar Knight, S.W., Vulliamy, T.J., Morgan, B., Devriendt, K., Mason, P.J., Dokal, I. 2001 Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis [link.springer.com]

Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. [1, 2] Pathophysiology To date, there are 14 genes that have been identified with DKC ( ACD, DCK1, TERC, TERT, NOP10, NHP2, TINF2, [emedicine.medscape.com]

The treatments measures may include the following: Use of moisturizing creams to prevent damage to the skin Good dental hygiene to help prevent early tooth loss. [dovemed.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [lifegrocery.com]

The deterioration of the function of telomerase prevents normal telomere maintenance and leads to reduced telomere length. The cells are rapidly dividing are particularly vulnerable to the effects of telomere shortening. [ivami.com]