We describe 14 years of follow-up of an individual with Hoyeraal-Hreidarsson syndrome who initially presented as an infant with intrauterine growth retardation, microcephaly, and central nervous system calcifications. [ncbi.nlm.nih.gov]

Proliferative retinopathy is variably present in DC depending on subtype and has been reported in other telomeropathies. [healio.com]

Clinical description The disease generally presents in early childhood and primarily affects males. Growth retardation is usually of prenatal onset. [orpha.net]

The boy presented survived longer than 5 years. Early recognition and appropriate genetic counseling… CONTINUE READING [semanticscholar.org]

• Pain

  […] service in Australia: referral and outcomes over two years A Herbert, N Bradford, L Donovan, LA Pedersen, H Irving Journal of palliative medicine 17 (3), 288-295, 2014 8 2014 Opioids in patients on renal dialysis JR Hardy, AR Herbert, E Reymond Journal of pain [scholar.google.com.au]

  […] sensation Shoulder pain Abnormal nervous system electrophysiology Myelin outfoldings Onion bulb formation Hypertrophic nerve changes Axonal regeneration Ulnar claw Hypopnea Decreased sensory nerve conduction velocity Diaphragmatic weakness Insidious [mendelian.co]

  […] sweating syndrome + Cole-Carpenter syndrome + Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Combined Oxidative Phosphorylation Deficiency 3 compartment syndrome + complex regional pain [rgd.mcw.edu]

  Urethral stenosis may lead to difficult or painful urination and urinary tract infections. The severity of dyskeratosis congenita varies widely among affected individuals. [ghr.nlm.nih.gov]

  Ki a híres pikkelysömör történetéből No evidence shows it is a cure, but it segít the pain associated ozonoterápia segít tightness and itching. [unabnadu.ml]

• Diarrhea

  Diarrhea was reported in 52% (13 of 25) of all described patients in the literature (Borggraefe et al. 2009). The mean age of onset of diarrhea was 12 months. [lymphosign.com]

  Results The patient had no history of recurrent infections, diarrhea or vaccine reactions. Weight in percentile 3 and height in 10. He also had nail dystrophy, leukoplakia of the tongue and normal neurological development. [waojournal.biomedcentral.com]

  However, he still experienced repeated CMV reactivation, episodes of diarrhea with or without fever, Escherichia coli urinary tract infection, Clostridium difficile-associated diarrhea, Salmonella group E enteric fever, and influenza during the first [mdpi.com]

  Gastrointestinal disease — In severe cases among young children, telomere disorders can cause isolated problems in the gut, including bloody diarrhea and insufficient weight gain and physical growth called failure to thrive.These symptoms often appear [hopkinsmedicine.org]

• Dysphagia

  Clinically, he demonstrated a developmental delay and progressive dysphagia. [thieme-connect.com]

  Constrictive median neuropathy Vocal cord paralysis Axonal degeneration Abnormality of the voice Abnormality of the skeletal system Hemolytic anemia Cranial nerve paralysis Vasculitis in the skin Osteopenia Mandibular prognathia Prominent forehead Erythema Dysphagia [mendelian.co]

  Microcephaly, gastrointestinal abnormalities (dysphagia), learning disabilities, and developmental delay were also noted. [bloodjournal.org]

  Oculoauriculofrontonasal syndrome Oculocerebrocutaneous Syndrome oculocerebrorenal syndrome + Oculodental Syndrome Rutherfurd Syndrome oculodentodigital dysplasia + Oculootoradial Syndrome Oculopalatocerebral Syndrome Oculorenocerebellar Syndrome Odontoma Dysphagia [rgd.mcw.edu]

• Abdominal Pain

  In addition, diarrhea arose, with stool content changing from loose to watery then bloody, and was associated with cramping abdominal pain and intermittent fever. [mdpi.com]

• Hematochezia

  The patient did not have any further episode of hematochezia and no further intervention was indicated. [pghn.org]

• Periodontitis

  Knops system CR2 Common variable immunodeficiency CRP Complement system CSF2RA Surfactant metabolism dysfunction, pulmonary CTC1 Cerebroretinal microangiopathy with calcifications and cysts CTLA4 CTSC Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis [genda.com.ar]

  (JPD) Papillon-Lefevre syndrome(PALS) / Haim-Munk syndrome(HMS) / Juvenile periodontitis(JPD) http://bioinf.uta.fi/CTSCbase/ CXCR4base WHIM syndrome WHIM syndrome http://bioinf.uta.fi/CXCR4base/ CYBAbase Autosomal recessive p22 phox deficiency Autosomal [hiroshi.mizushima.info]

  In DC, severe periodontal destruction occurs due to anomalies in ectodermal derived structures and a poor response in the patient caused by neutropenia. [dovepress.com]

  […] loss Aplasia/Hypoplasia of the skin Sleep apnea Premature loss of teeth Decreased motor nerve conduction velocity Hammertoe Apnea Neoplasm of the skin Foot dorsiflexor weakness Distal muscle weakness Peripheral demyelination Paresthesia Pancytopenia Periodontitis [mendelian.co]

  ENAMEL DEFECT SYNDROME Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response Hypotonia, Seizures, and Precocious Puberty hypotonia-cystinuria syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome + Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar [rgd.mcw.edu]

• Dental Caries

  caries, esophageal webs, genitourinary defects, restrictive pulmonary disorder Rarely associated with usual interstitial pneumonia causing death from respiratory failure ( Mayo Clin Proc 2005;80:817 ) Although probably an inherited DNA repair defect [pathologyoutlines.com]

  caries or loss ( 18%) Blepharitis, conjunctivitis, epiphora (36%) Sparse eyebrows / eyelashes Alopecia (16%) Urethral stricture, phimosis (7%) Bone marrow failure, peripheral pancytopenia ( 93%) Others signs: Oesophageal stricture (14%) Pulmonary fibrosis [atlasgeneticsoncology.org]

  Less commonly, DKC involves failure of a variety of endothelial and epithelial compartments, including enterocolitis, emphysema, liver cirrhosis, premature hair graying, short stature, dental caries, osteoporosis, and esophageal stricture ( Dokal, 2011 [jcb.rupress.org]

• Small Head

  A small head (microcephaly) is usually evident at birth. Many infants fail to thrive and have a global developmental delay. Difficulty with balance and unsteadiness soon become apparent. [disorders.eyes.arizona.edu]

  Signs and symptoms Physical and mental growth retardation and small head size are evident soon after birth. Generalized developmental delay is a common feature and a few patients have seizures. [xpertdox.com]

• Hyperpigmentation

  […] paresis (weakness or partial loss of voluntary movement); • Ataxia (impaired coordination); • Immunodeficiency; • Progressive bone marrow failure; • Myelodysplastic syndrome or acute leukemia; • Solid tumors of the head/neck; • Pulmonary fibrosis; • Hyperpigmentation [secure.ssa.gov]

  Other clinical manifestations include intellectual disability, microcephaly, mucocutaneous lesions (hyperpigmentation, nail dystrophy, premalignant leukoplakia affecting oral and gastrointestinal mucosa), early onset bone marrow failure, immunodeficiency [orpha.net]

  Other clinical manifestations include: Microcephaly Intellectual disability Mucocutaneous lesions (hyperpigmentation, nail dystrophy, premalignant leukoplakia affecting oral and gastrointestinal mucosa) Immunodeficiency and pancytopenia. [checkorphan.org]

• Sweating

  […] chloride, Pseudohypoaldosteronism SCNN1B Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism SERPINA1 Alpha-1-antitrypsin deficiency SFTPA1 Idiopathic pulmonary fibrosis SFTPA2 Pulmonary fibrosis, idiopathic [genda.com.ar]

  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]

  Excess sweating was noted on the palms and soles of the feet. He had mild hypertonicity in all four extremities. He could sit independently and was able to stand with support, but was unable to walk. [researchgate.net]

• Sparse Hair

  There are often signs of dyskeratosis congenita with unusual skin pigmentation, abnormal nails, sparse hair, and scarring of oral membranes and those of the eye (conjunctiva or outer covering). [disorders.eyes.arizona.edu]

  hair Glucose intolerance Abnormality of the immune system Resting tremor Choreoathetosis Delayed puberty Abnormal blistering of the skin White hair Displacement of the external urethral meatus Blepharitis Palmar hyperkeratosis Neoplasm of the pancreas [mendelian.co]

• Sparse Hair

  There are often signs of dyskeratosis congenita with unusual skin pigmentation, abnormal nails, sparse hair, and scarring of oral membranes and those of the eye (conjunctiva or outer covering). [disorders.eyes.arizona.edu]

  hair Glucose intolerance Abnormality of the immune system Resting tremor Choreoathetosis Delayed puberty Abnormal blistering of the skin White hair Displacement of the external urethral meatus Blepharitis Palmar hyperkeratosis Neoplasm of the pancreas [mendelian.co]

• Hyperhidrosis

  […] essentially tissues with a high proliferation rate: skin, mucous membranes, bone marrow Phenotype and clinics Short stature (16%) Cutaneous signs: Hyperpigmentation, telangiectasia, atrophy (poïkilodermia) Dystrophic nails and palmoplantar keratoderma, hyperhidrosis [atlasgeneticsoncology.org]

  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]

  Pain Clonus Rare Symptoms - Less than 30% cases Neurological speech impairment Skin ulcer Nystagmus Acute lymphoblastic leukemia Muscular hypotonia Autosomal recessive inheritance Gait ataxia Tremor Intellectual disability, moderate Narrow forehead Hyperhidrosis [mendelian.co]

• Psychomotor Retardation

  retardation / learning disability - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - Clotting / hemostasis [csbg.cnb.csic.es]

  PSPH deficiency Psychomotor Agitation + Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism Qazi Markouizos syndrome Radio Renal Syndrome Radioulnar Synostosis Retinal Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud [rgd.mcw.edu]

  […] anticonvulsant syndrome type 2 SRPS preeclampsia group and congenital contractures Charcot-Marie-Tooth disease axonal Fetal antihy per tensive drugs type 2 Polydactyly with neonatal Marden Walker like syndrome Type 2I syndrome chondrodystrophy PIH without psychomotor [yumpu.com]

  Ajlouni, Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”, European Journal of Pediatrics, 161, 3, (170), (2002). [doi.org]

• Cerebral Calcification

  DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING Diagnostic testing: • Neuroimaging reports showing cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications; and • Genetic testing for the DKC1 [secure.ssa.gov]

  Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging. Molecular genetic testing is needed to confirm diagnosis. [orpha.net]

Her vasculitic workups including antinuclear antibody profile and rheumatoid arthritis were all negative. HIV, hepatitis B, and hepatitis C serologies were negative. Serum levels of folate and Vitamin B12 were normal. [journals.lww.com]

Karyotype was normal and an extensive genetics workup was also negative. Although, the classic mucocutaneous signs were not present, the diagnosis of HH was made at age 4 when his telomeres were found to be extremely short in all cell lines. [healio.com]

Once again, an infectious workup, including stool adenovirus, cytomegalovirus, norovirus, enterovirus, cryptosporidium, giardia, clostridium difficile, Escherichia coli and other bacterial stool pathogens were negative. [pghn.org]

Karyotype was normal and an extensive genetics workup was also negative. [docksci.com]

TREATMENT There is no cure for this disorder. Treatment is symptom specific and supportive. Aplastic anemia and immunodeficiency are treated with bone marrow/stem cell transplantation. [secure.ssa.gov]

Management and treatment The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections is required. [orpha.net]

Treatment [ edit ] Treatment is supportive. The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections. Genetic counselling. [wikivividly.com]

Treatment can include bone marrow transplants and careful attention to sickness or infections. [globalgenes.org]

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis is poor due to the severity of the disease course. Progressive bone marrow failure occurs in over 80% of cases and is the primary cause of early mortality. TREATMENT There is no cure for this disorder. [secure.ssa.gov]

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. [checkorphan.org]

Prognosis The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. Last updated: 2/1/2013 [rarediseases.info.nih.gov]

Etiology HSS is caused by mutations in the DKC1 gene (Xq28), encoding the nucleolar protein dyskerin which interacts with the human telomerase RNA complex. [orpha.net]

Summary Epidemiology Prevalence and incidence are unknown. More than 12 patients have been reported to date but the syndrome may be underdiagnosed due to high mortality rates. [orpha.net]

Epidemiology Prevalence and incidence are unknown. More than 12 patients have been reported to date but the syndrome may be underdiagnosed due to high mortality rates. [rarediseases.info.nih.gov]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.es]

This review summarizes the pathophysiology underlying TBDs, associated clinical features, management recommendations and therapeutic options. [tandfonline.com]

This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome." Nature Genetics, vol. 44, no. 3, 2012, p. 238+. [go.gale.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]

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. [ncbi.nlm.nih.gov]

Hoyeraal Hreidarsson Syndrome may not be preventable, since it is a genetic disorder Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding [dovemed.com]

Prevention - Hoyeraal-Hreidarsson syndrome Not supplied. Diagnosis - Hoyeraal-Hreidarsson syndrome Not supplied. [checkorphan.org]

RTEL1 prevents genomic instability and maintains integrity of the telomeres by disassembling different secondary structures that arise during DNA replication, repair, and recombination. [cordis.europa.eu]

Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. [science.gov]