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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

MedGen UID:
344577
•Concept ID:
C1855788
•
Disease or Syndrome
Synonyms: Ichthyosis alopecia eclabion ectropion mental retardation; ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION; Jagell Holmgren Hofer syndrome
SNOMED CT: Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (763404001); Jagell, Holmgren, Hofer syndrome (763404001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009444
OMIM®: 242510
Orphanet: ORPHA2269

Definition

An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. [from SNOMEDCT_US]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
See: Feature record | Search on this feature
Ectropion
MedGen UID:
4448
•Concept ID:
C0013592
•
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
See: Feature record | Search on this feature
Everted lower lip vermilion
MedGen UID:
344003
•Concept ID:
C1853246
•
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
See: Feature record | Search on this feature
Alopecia
MedGen UID:
7982
•Concept ID:
C0002170
•
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
See: Feature record | Search on this feature
Ichthyosis
MedGen UID:
7002
•Concept ID:
C0020757
•
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Follow this link to review classifications for Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and Treatment of Multiple Sclerosis: A Review.
McGinley MP, Goldschmidt CH, Rae-Grant AD
JAMA 2021 Feb 23;325(8):765-779. doi: 10.1001/jama.2020.26858. PMID: 33620411
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Current Concepts in Diagnosis and Treatment of Functional Neurological Disorders.
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article

Recent clinical studies

Etiology

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Allison R 2nd, Assadzandi S, Adelman M
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Aging-related anorexia and its association with disability and frailty.
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J Cachexia Sarcopenia Muscle 2018 Oct;9(5):834-843. Epub 2018 Aug 14 doi: 10.1002/jcsm.12330. PMID: 30109778Free PMC Article
Changes in cognitive function after a 12-week exercise intervention in adults with Down syndrome.
Ptomey LT, Szabo AN, Willis EA, Gorczyca AM, Greene JL, Danon JC, Donnelly JE
Disabil Health J 2018 Jul;11(3):486-490. Epub 2018 Feb 26 doi: 10.1016/j.dhjo.2018.02.003. PMID: 29501470Free PMC Article
Interventions for treating pain and disability in adults with complex regional pain syndrome.
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Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009416. doi: 10.1002/14651858.CD009416.pub2. PMID: 23633371Free PMC Article
Oral health of patients with intellectual disabilities: a systematic review.
Anders PL, Davis EL
Spec Care Dentist 2010 May-Jun;30(3):110-7. doi: 10.1111/j.1754-4505.2010.00136.x. PMID: 20500706

Diagnosis

Frailty: Evaluation and Management.
Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
Approaches to the diagnosis and prevention of frailty.
Woolford SJ, Sohan O, Dennison EM, Cooper C, Patel HP
Aging Clin Exp Res 2020 Sep;32(9):1629-1637. Epub 2020 Apr 30 doi: 10.1007/s40520-020-01559-3. PMID: 32356135Free PMC Article
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Psychiatr Danub 2019 Dec;31(Suppl 5):737-744. PMID: 32160166
Chronic pain as a symptom or a disease: the IASP Classification of Chronic Pain for the International Classification of Diseases (ICD-11).
Treede RD, Rief W, Barke A, Aziz Q, Bennett MI, Benoliel R, Cohen M, Evers S, Finnerup NB, First MB, Giamberardino MA, Kaasa S, Korwisi B, Kosek E, Lavand'homme P, Nicholas M, Perrot S, Scholz J, Schug S, Smith BH, Svensson P, Vlaeyen JWS, Wang SJ
Pain 2019 Jan;160(1):19-27. doi: 10.1097/j.pain.0000000000001384. PMID: 30586067
Down syndrome: a review of the literature.
Desai SS
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997 Sep;84(3):279-85. doi: 10.1016/s1079-2104(97)90343-7. PMID: 9377191

Therapy

Immunotherapy in autoimmune encephalitis.
Trewin BP, Freeman I, Ramanathan S, Irani SR
Curr Opin Neurol 2022 Jun 1;35(3):399-414. doi: 10.1097/WCO.0000000000001048. PMID: 35674084
Changes in cognitive function after a 12-week exercise intervention in adults with Down syndrome.
Ptomey LT, Szabo AN, Willis EA, Gorczyca AM, Greene JL, Danon JC, Donnelly JE
Disabil Health J 2018 Jul;11(3):486-490. Epub 2018 Feb 26 doi: 10.1016/j.dhjo.2018.02.003. PMID: 29501470Free PMC Article
Conservative treatment in patients with mild to moderate carpal tunnel syndrome: A systematic review.
Jiménez Del Barrio S, Bueno Gracia E, Hidalgo García C, Estébanez de Miguel E, Tricás Moreno JM, Rodríguez Marco S, Ceballos Laita L
Neurologia (Engl Ed) 2018 Nov-Dec;33(9):590-601. Epub 2016 Jul 22 doi: 10.1016/j.nrl.2016.05.018. PMID: 27461181
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Interventions for treating pain and disability in adults with complex regional pain syndrome.
O'Connell NE, Wand BM, McAuley J, Marston L, Moseley GL
Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009416. doi: 10.1002/14651858.CD009416.pub2. PMID: 23633371Free PMC Article

Prognosis

The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.
Christopher A, Kraft E, Olenick H, Kiesling R, Doty A
Disabil Rehabil 2021 Jun;43(13):1799-1813. Epub 2019 Oct 26 doi: 10.1080/09638288.2019.1682066. PMID: 31656104
Dental health in persons with disability.
Devinsky O, Boyce D, Robbins M, Pressler M
Epilepsy Behav 2020 Sep;110:107174. Epub 2020 Jun 9 doi: 10.1016/j.yebeh.2020.107174. PMID: 32531727
Interventions for treating pain and disability in adults with complex regional pain syndrome.
O'Connell NE, Wand BM, McAuley J, Marston L, Moseley GL
Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009416. doi: 10.1002/14651858.CD009416.pub2. PMID: 23633371Free PMC Article
Clinically isolated syndromes.
Miller DH, Chard DT, Ciccarelli O
Lancet Neurol 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. PMID: 22265211
Frailty in older adults: evidence for a phenotype.
Fried LP, Tangen CM, Walston J, Newman AB, Hirsch C, Gottdiener J, Seeman T, Tracy R, Kop WJ, Burke G, McBurnie MA; Cardiovascular Health Study Collaborative Research Group
J Gerontol A Biol Sci Med Sci 2001 Mar;56(3):M146-56. doi: 10.1093/gerona/56.3.m146. PMID: 11253156

Clinical prediction guides

The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.
Christopher A, Kraft E, Olenick H, Kiesling R, Doty A
Disabil Rehabil 2021 Jun;43(13):1799-1813. Epub 2019 Oct 26 doi: 10.1080/09638288.2019.1682066. PMID: 31656104
Aging-related anorexia and its association with disability and frailty.
Tsutsumimoto K, Doi T, Makizako H, Hotta R, Nakakubo S, Makino K, Suzuki T, Shimada H
J Cachexia Sarcopenia Muscle 2018 Oct;9(5):834-843. Epub 2018 Aug 14 doi: 10.1002/jcsm.12330. PMID: 30109778Free PMC Article
The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review.
Karussis D
J Autoimmun 2014 Feb-Mar;48-49:134-42. Epub 2014 Feb 10 doi: 10.1016/j.jaut.2014.01.022. PMID: 24524923
Clinically isolated syndromes.
Miller DH, Chard DT, Ciccarelli O
Lancet Neurol 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. PMID: 22265211
Frailty in older adults: evidence for a phenotype.
Fried LP, Tangen CM, Walston J, Newman AB, Hirsch C, Gottdiener J, Seeman T, Tracy R, Kop WJ, Burke G, McBurnie MA; Cardiovascular Health Study Collaborative Research Group
J Gerontol A Biol Sci Med Sci 2001 Mar;56(3):M146-56. doi: 10.1093/gerona/56.3.m146. PMID: 11253156

Recent systematic reviews

Comparison of dry needling and trigger point manual therapy in patients with neck and upper back myofascial pain syndrome: a systematic review and meta-analysis.
Lew J, Kim J, Nair P
J Man Manip Ther 2021 Jun;29(3):136-146. Epub 2020 Sep 22 doi: 10.1080/10669817.2020.1822618. PMID: 32962567Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
The Effectiveness of Neural Mobilization for Neuromusculoskeletal Conditions: A Systematic Review and Meta-analysis.
Basson A, Olivier B, Ellis R, Coppieters M, Stewart A, Mudzi W
J Orthop Sports Phys Ther 2017 Sep;47(9):593-615. Epub 2017 Jul 13 doi: 10.2519/jospt.2017.7117. PMID: 28704626
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Management of lumbar spinal stenosis.
Lurie J, Tomkins-Lane C
BMJ 2016 Jan 4;352:h6234. doi: 10.1136/bmj.h6234. PMID: 26727925Free PMC Article

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