Presentation
The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. [malacards.org]
Dyskeratosis congenita is a congenital disease, meaning it is present at birth. It was initially thought to only affect the skin and nails, but today experts understand that dyskeratosis congenita in its most severe form causes bone marrow failure. [stanfordchildrens.org]
Acronym DKCA2 Synonyms Dyskeratosis congenita Scoggins type Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. [rarediseases.org]
Jaw & Teeth
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Premature Loss of Teeth
loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Pulmonary fibrosis 0002206 Reticular hyperpigmentation 0007588 Ridged nail Grooved nails Nail ridging [ more ] 0001807 Sparse hair 0008070 Specific [rarediseases.info.nih.gov]
loss of teeth Premature adrenarche If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Prostate cancer, related diseases and genetic alterations Myopia and Hypotelorism [mendelian.co]
Eyes
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Blepharitis
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]
Irritability Thin skin Cirrhosis Neoplasm Hypertrichosis Hemolytic anemia Pruritus Anxiety Photophobia Skin vesicle Depressivity Hepatomegaly Rare Symptoms - Less than 30% cases Nail dystrophy Microcephaly Ridged nail Abnormal eyebrow morphology Hemiparesis Blepharitis [mendelian.co]
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Absent Lacrimation
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]
lacrimal punctum Vasculitis Corneal erosion Paronychia Ridged fingernail Decreased testosterone in males Impaired T cell function Cheilitis Furrowed tongue Alopecia of scalp Recurrent candida infections Poor appetite Steatorrhea Psoriasiform dermatitis [mendelian.co]
Skin
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Sparse Eyelashes
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]
Other skin changes can include: Early hair greying or hair loss Sparse eyelashes Nail ridging Hyperhidrosis (excessive sweating) Squamous cell carcinomas (SCC), often arising in teens or twenties (50% by 40 years). [dermnetnz.org]
Abnormal eyelash growth includes sparse eyelashes, ectropion, entropion, and trichiasis, which can lead to corneal abrasions, scarring, or infection if not treated. [ncbi.nlm.nih.gov]
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Sparse Hair
hair 0008070 Specific learning disability 0001328 Squamous cell carcinoma of the skin 0006739 Thrombocytopenia Low platelet count 0001873 Showing of 26 Last updated: 3/1/2020 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]
hair, distinctive facial features Hyperkeratotic skin lesion, ichthyosis-like condition Birth No Yes H, I H, N, V Noonan Syndrome, Costello Syndrome EKG Cardiologist, Neurologist, Opthalmologist Carvajal syndrome 757.4 Increased in Ecuadorian population [dermatologyadvisor.com]
Growth delay Hepatic failure Cataract Dermal atrophy Edema Jaundice Abnormality of the liver Behavioral abnormality Aseptic necrosis Hypermelanotic macule Epiphora Arthralgia Thrombocytopenia Carcinoma Myalgia Hepatocellular carcinoma Carious teeth Sparse [mendelian.co]
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Premature Graying of the Hair
Signs and Symptoms Atrophy Telangiectasia Reddish appearance of face Atrophic skin Discolored skin spots Dysonchia Suppurative paronychia Reticulate grayish skin pigmentation Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the [healthcaremagic.com]
Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. [mendelian.co]
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Premature Graying of the Hair
Signs and Symptoms Atrophy Telangiectasia Reddish appearance of face Atrophic skin Discolored skin spots Dysonchia Suppurative paronychia Reticulate grayish skin pigmentation Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the [healthcaremagic.com]
Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. [mendelian.co]
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Palmar Keratosis
Signs and Symptoms Atrophy Telangiectasia Reddish appearance of face Atrophic skin Discolored skin spots Dysonchia Suppurative paronychia Reticulate grayish skin pigmentation Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the [healthcaremagic.com]
Neurologic
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Dysphasia
Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the hair Hyperhidrosis Hyperkeratosis of the palms and soles Loss of dermal ridges on fingers and toes Nail dystrophy Mucosal leukoplakia of buccal mucosa, tongue, and oropharynx Dysphasia [healthcaremagic.com]
Demyelination Dysmyelopoietic syndrome see Myelodysplastic syndrome Dysosteosclerosis Dysostosis Dysostosis multiplex see Dysostosis Dysostosis, cleidocranial see Cleidocranial dysplasia Dyspareunia Dyspepsia functional see Non-ulcer dyspepsia Dysphagia Dysphasia [diseasesdatabase.com]
Workup
Many melanin granules in basal cells HID syndrome, CIE Sepsis workup none Meleda type Mal de Meleda, MDM, Meleda Disease, Keratosis Palmoplantaris Transgradiens of Siemens 757.4 Inhabitants of the island of Mljet off the Dalmation Coast SLURP-1, Ly-6/ [dermatologyadvisor.com]
Treatment
Pedigree: Autosomal dominant Autosomal recessive X-linked recessive, carrier mother X-linked recessive, father affected Treatment Treatment Options: Treatment for DKC with hematopoietic stem cell transplantation can be curative but its long-term efficacy [disorders.eyes.arizona.edu]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment and Investigations Androgens and granulocyte colony-stimulating factors may temporarily improve the blood count Stem Cell transplantation is advisable in some cases but it involves a risk of fatal pulmonary complications Radiations and pulmonary [healthcaremagic.com]
Prognosis
Prognosis DKC is a multisystem disorder that carries a poor prognosis (mean survival of 30 y), with most deaths related to infections, bleeding, and malignancy. [emedicine.medscape.com]
(August 2017) Prognosis[edit] DC is associated with shorter life expectancy, but many live to at least age 60.[13] Research[edit] Recent research has used induced pluripotent stem cells to study disease mechanisms in humans, and discovered that the reprogramming [en.wikipedia.org]
This review of the literature points out the importance of hematologic and immunologic alterations in defining the course and prognosis of the disease process. [journals.sagepub.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]
Etiology
PubMed Google Scholar Pai GS, Morgan S, Whetsell C (1989) Etiologic heterogeneity in dyskeratosis congenita. Am J Med Genet 32: 63–66. [link.springer.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. [21, 39] Etiology Mutations in DKC1 have been shown [emedicine.medscape.com]
Epidemiology
(PMID: 20056641) Shen J … Santella RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41 54 A common variant in the telomerase [genecards.org]
Any secondary infection may need to be treated with antibiotics, though infection can often be prevented with appropriate grooming and vinegar or bleach baths.[12][1][7] Epidemiology[edit] Pachyonychia congenita is a rare disorder with an unknown prevalence [en.wikipedia.org]
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]
Disorder Synonyms PPK Column* ICD-9 Selected Epidemiologic Features Genetic Cause Syndromic Associations Distinguishing features Age of onset (for disorder manifistation) Erythema Transgrediens Other Epidermal Features** Systemic Features*** Relevant [dermatologyadvisor.com]
Pathophysiology
Those homozygous recessive for mutations in Nhp2 do show shorter telomeres when compared with age-matched normal individuals.[6] Pathophysiology[edit] Dyskeratosis congenita is a disorder of poor telomere maintenance[4] mainly due to a number of gene [en.wikipedia.org]
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]
Prevention
(PMID: 20056641) Shen J … Santella RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41 54 A common variant in the telomerase [genecards.org]
Health Professional Information [NCI PDQ] Esophageal cancer: Prevention - Patient Information [NCI PDQ] Esophageal cancer: Screening - Health Professional Information [NCI PDQ] Esophageal cancer: Screening - Patient Information [NCI PDQ] Esophageal [dentisty.org]
Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. [ghr.nlm.nih.gov]
Our experience helps us know what to watch for and how to prevent and treat problems early. This increases the chances of successful treatment and helps your child feel better. [seattlechildrens.org]
An enzyme called telomerase prevents telomere shortening. It is secreted by some stem cells and nearly all cancer cells, allowing them to keep on dividing. [dermnetnz.org]