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Hoyeraal-Hreidarsson Syndrome

Progressive Pancytopenia - Immunodeficiency - Cerebellar Hypoplasia Syndrome


Presentation

  • […] cancer and pulmonary fibrosis is also significant. [4] [5] [6] Presentation [ edit ] The currently recognized features of HHS are cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction.[en.wikipedia.org]
  • We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita.[ncbi.nlm.nih.gov]
  • Clinical description The disease generally presents in early childhood and primarily affects males. Growth retardation is usually of prenatal onset.[orpha.net]
Death in Childhood
  • 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]
  • Definition A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood.[uniprot.org]
  • Prognosis - Hoyeraal-Hreidarsson syndrome The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. Treatment - Hoyeraal-Hreidarsson syndrome Not supplied.[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]
Aspiration
  • A BM aspirate at this time revealed a hypocellular marrow consistent with trilineage BM failure.[nature.com]
  • The parents were counseled accordingly and bone marrow aspiration was recommended. They refused further investigation.[researchgate.net]
  • Mauriac Syndrome May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration[rgd.mcw.edu]
Progressive Dysphagia
Intestinal Atresia
  • Mutations in tetratricopeptide repeat domain 7A (TTC7A) are associated with combined immunodeficiency with dendriform lung ossification but no intestinal atresia. LymphoSign J. 1 (1): 10-26 Link , Google Scholar .[lymphosign.com]
Oral Ulcers
  • From 6 months of age, she had recurrent episodes of fever, oral ulcers, loss of hair, finger nails, and toe nails, and generalized skin pigmentation. All developmental milestones were delayed.[ijpd.in]
  • Persistent oral ulceration began at 22 months of age. Cerebellar hypoplasia was detected on a magnetic resonance imaging scan at 24 months of age.[nature.com]
  • CASE REPORT A boy from Libya, age 5 years, and 8 months, presented with painful oral ulcers, pigmentary skin changes, and hair loss, all of which were thought to be due to valproic acid.[researchgate.net]
Excessive Wrinkled Skin
  • wrinkled skin Generalized hyperpigmentation Generalized hypopigmentation of hair Hypertonia Nail dystrophy Oral leukoplakia Premature graying of hair Sparse scalp hair Ventriculomegaly Occasionally present symptoms in 5-29% of the cases: Abnormality[dovemed.com]
Retinal Hemorrhage
  • We report here a case of a 6-year-old girl with HH who presented with bone marrow hypoplasia, skin pigmentation, nail dystrophy, growth retardation, and bilateral retinal hemorrhage.[ncbi.nlm.nih.gov]
Tremulousness
  • A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months.[ncbi.nlm.nih.gov]
  • CASE PRESENTATION: A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months.[uniprot.org]
  • CASE PRESENTATION A 3-month-old boy was referred for head titubation and tremulous movements of the trunk. Multiple petechiae also developed on his face and trunk at the age of 5 months.[wwww.unboundmedicine.com]
Neurologic Manifestation
  • Ochs and Nima Rezaei, Primary Immunodeficiency Diseases Associated with Neurologic Manifestations, Journal of Clinical Immunology, 10.1007/s10875-011-9593-8, 32, 1, (1-24), (2011). Rachel B. Keller, Katelyn E. Gagne, G. Naheed Usmani, George K.[doi.org]
  • manifestations, dwarfism, and delayed sexual development.[renaldo.hassanflores.com]

Workup

  • 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.[ijpd.in]
  • 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]
  • Karyotype was normal and an extensive genetics workup was also negative.[docksci.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]

Treatment

  • 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 ] Current treatment is supportive. [ citation needed ] The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections.[en.wikipedia.org]
  • 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]
  • The standard treatments, chemotherapy regimens, and radiation therapy were not possible. The data suggest that conditioning regimens including TBI should not be used when a bone marrow transplantation procedure is planned in these patients.[ncbi.nlm.nih.gov]

Prognosis

  • 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]
  • Prognosis - Hoyeraal-Hreidarsson syndrome The prognosis is poor as the disease follows a very severe course and premature death in childhood can occur due to bone marrow failure. Treatment - Hoyeraal-Hreidarsson syndrome Not supplied.[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

  • 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]

Epidemiology

  • 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]
  • Savage Corresponding Author Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA Correspondence: Sharon A.[doi.org]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Shimamura A, Alter BP (2010) Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24: 101–122. View Article Google Scholar 22. Deshaies RJ, Joazeiro CA (2009) RING domain E3 ubiquitin ligases.[journals.plos.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]
  • Frequent in both DC and FA were anogenital cancers, primarily anorectal in DC and gynecologic in FA; future studies may determine whether these have similar pathophysiologies (eg, related to human papilloma virus).[bloodjournal.org]

Prevention

  • 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]
  • Introducing a normal RTEL1 gene into affected cells prevented telomere shortening and extended their lifespan in culture.[doi.org]

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