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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 IMPAIRED INTELLECTUAL DEVELOPMENT; 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).
 
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
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
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.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
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.

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

Patricios JS, Schneider KJ, Dvorak J, Ahmed OH, Blauwet C, Cantu RC, Davis GA, Echemendia RJ, Makdissi M, McNamee M, Broglio S, Emery CA, Feddermann-Demont N, Fuller GW, Giza CC, Guskiewicz KM, Hainline B, Iverson GL, Kutcher JS, Leddy JJ, Maddocks D, Manley G, McCrea M, Purcell LK, Putukian M, Sato H, Tuominen MP, Turner M, Yeates KO, Herring SA, Meeuwisse W
Br J Sports Med 2023 Jun;57(11):695-711. doi: 10.1136/bjsports-2023-106898. PMID: 37316210
McGinley MP, Goldschmidt CH, Rae-Grant AD
JAMA 2021 Feb 23;325(8):765-779. doi: 10.1001/jama.2020.26858. PMID: 33620411
Schiffman E, Ohrbach R, Truelove E, Look J, Anderson G, Goulet JP, List T, Svensson P, Gonzalez Y, Lobbezoo F, Michelotti A, Brooks SL, Ceusters W, Drangsholt M, Ettlin D, Gaul C, Goldberg LJ, Haythornthwaite JA, Hollender L, Jensen R, John MT, De Laat A, de Leeuw R, Maixner W, van der Meulen M, Murray GM, Nixdorf DR, Palla S, Petersson A, Pionchon P, Smith B, Visscher CM, Zakrzewska J, Dworkin SF; International RDC/TMD Consortium Network, International association for Dental Research; Orofacial Pain Special Interest Group, International Association for the Study of Pain
J Oral Facial Pain Headache 2014 Winter;28(1):6-27. doi: 10.11607/jop.1151. PMID: 24482784Free PMC Article

Recent clinical studies

Etiology

Shafiee E, MacDermid J, Packham T, Walton D, Grewal R, Farzad M
Clin J Pain 2023 Feb 1;39(2):91-105. doi: 10.1097/AJP.0000000000001089. PMID: 36650605
Para-García G, García-Muñoz AM, López-Gil JF, Ruiz-Cárdenas JD, García-Guillén AI, López-Román FJ, Pérez-Piñero S, Abellán-Ruiz MS, Cánovas F, Victoria-Montesinos D
Int J Environ Res Public Health 2022 Sep 2;19(17) doi: 10.3390/ijerph191710961. PMID: 36078676Free PMC Article
Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
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
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

Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
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
Gavrilov GV, Gaydar BV, Svistov DV, Korovin AE, Samarcev IN, Churilov LP, Tovpeko DV
Psychiatr Danub 2019 Dec;31(Suppl 5):737-744. PMID: 32160166
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
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

Shafiee E, MacDermid J, Packham T, Walton D, Grewal R, Farzad M
Clin J Pain 2023 Feb 1;39(2):91-105. doi: 10.1097/AJP.0000000000001089. PMID: 36650605
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Auld F, Maschauer EL, Morrison I, Skene DJ, Riha RL
Sleep Med Rev 2017 Aug;34:10-22. Epub 2016 Jul 20 doi: 10.1016/j.smrv.2016.06.005. PMID: 28648359
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
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

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
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
Artaza-Artabe I, Sáez-López P, Sánchez-Hernández N, Fernández-Gutierrez N, Malafarina V
Maturitas 2016 Nov;93:89-99. Epub 2016 Apr 14 doi: 10.1016/j.maturitas.2016.04.009. PMID: 27125943
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
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

Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
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
Artaza-Artabe I, Sáez-López P, Sánchez-Hernández N, Fernández-Gutierrez N, Malafarina V
Maturitas 2016 Nov;93:89-99. Epub 2016 Apr 14 doi: 10.1016/j.maturitas.2016.04.009. PMID: 27125943
Herridge MS, Tansey CM, Matté A, Tomlinson G, Diaz-Granados N, Cooper A, Guest CB, Mazer CD, Mehta S, Stewart TE, Kudlow P, Cook D, Slutsky AS, Cheung AM; Canadian Critical Care Trials Group
N Engl J Med 2011 Apr 7;364(14):1293-304. doi: 10.1056/NEJMoa1011802. PMID: 21470008
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

Valera-Calero JA, Fernández-de-Las-Peñas C, Navarro-Santana MJ, Plaza-Manzano G
Int J Environ Res Public Health 2022 Aug 11;19(16) doi: 10.3390/ijerph19169904. PMID: 36011540Free PMC Article
Smart KM, Ferraro MC, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2022 May 17;5(5):CD010853. doi: 10.1002/14651858.CD010853.pub3. PMID: 35579382Free PMC Article
van Reijn-Baggen DA, Han-Geurts IJM, Voorham-van der Zalm PJ, Pelger RCM, Hagenaars-van Miert CHAC, Laan ETM
Sex Med Rev 2022 Apr;10(2):209-230. Epub 2021 Jun 12 doi: 10.1016/j.sxmr.2021.03.002. PMID: 34127429
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
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

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