Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. [rarediseases.org]

• Premature Loss of Teeth

  […] graying of hair Early graying Premature graying Premature greying Premature hair graying [ more ] 0002216 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Pulmonary fibrosis 0002206 Reticular [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]

• Sparse Hair

  0007588 Ridged nail Grooved nails Nail ridging [ more ] 0001807 Sparse 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 [rarediseases.info.nih.gov]

  hair, enamelogenesis imperfecta Folicular hyperkeratosis, scaly plaques Birth-Early Childhood No No H, N, F N, O, V, E, H Electron microspcopy conducted on hair: focal, semi-smooth ovoid dells in the beaded areas Francois dyscephalic syndrome Neurologist [dermatologyadvisor.com]

• 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]

• Koilonychia

  Clinical features of dyskeratosis congenita The classical mucocutaneous triad of dyskeratosis congenita was originally defined by the following three mucocutaneous features: Nail dystrophy Longitudinal ridging Loss of nails Koilonychia (thin spoon-shaped [dermnetnz.org]

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]

[…] approaches development of novel small molecule and genetic treatments Symptoms & Causes » [childrenshospital.org]

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]

Diagnosing the condition is very important so treatment can start. [seattlechildrens.org]

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]

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]

(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]

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]

(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]