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Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

MedGen UID:
375146
Concept ID:
C1843285
Disease or Syndrome
Synonym: HOPP SYNDROME
SNOMED CT: Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (763658004); HOPP syndrome (763658004)
 
Monarch Initiative: MONDO:0011884
OMIM®: 607658
Orphanet: ORPHA307936

Definition

An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Follow this link to review classifications for Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome in Orphanet.

Professional guidelines

PubMed

Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC
Int J Mol Sci 2022 Sep 15;23(18) doi: 10.3390/ijms231810765. PMID: 36142674Free PMC Article
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Duvic M
Clin Lymphoma 2000 Nov;1 Suppl 1:S51-5. doi: 10.3816/clm.2000.s.010. PMID: 11707865

Recent clinical studies

Etiology

Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ, Mathur AN
Pediatr Dermatol 2022 Jan;39(1):84-90. Epub 2022 Jan 5 doi: 10.1111/pde.14905. PMID: 34989033
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Guerra L, Castori M, Didona B, Castiglia D, Zambruno G
J Eur Acad Dermatol Venereol 2018 May;32(5):704-719. Epub 2018 Mar 24 doi: 10.1111/jdv.14902. PMID: 29489036
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153

Diagnosis

Huang YY, Li JH
JAMA Dermatol 2024 Feb 1;160(2):218-219. doi: 10.1001/jamadermatol.2023.4152. PMID: 38055272
Lee TL, Lin PH, Chen PL, Hong JB, Wu CC
Genes (Basel) 2020 Dec 30;12(1) doi: 10.3390/genes12010043. PMID: 33396879Free PMC Article
Al-Hamdi KI, Qais Saadoon A, Abduljabbar NH
JAMA Dermatol 2020 Oct 1;156(10):1126. doi: 10.1001/jamadermatol.2020.2555. PMID: 32745176
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008

Therapy

Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Degen A, Alter M, Schenck F, Satzger I, Völker B, Kapp A, Gutzmer R
J Dtsch Dermatol Ges 2010 Sep;8(9):652-61. Epub 2010 May 6 doi: 10.1111/j.1610-0387.2010.07449.x. PMID: 20482685
Braun-Falco M
J Dtsch Dermatol Ges 2009 Nov;7(11):971-84; quiz 984-5. doi: 10.1111/j.1610-0387.2009.07058.x. PMID: 19341430
Wu IB, Schwartz RA
J Am Acad Dermatol 2008 Jul;59(1):113-21. Epub 2008 Apr 23 doi: 10.1016/j.jaad.2008.02.047. PMID: 18436339
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008

Prognosis

Zagoras T, Inci R, Kantere D, Holmström P, Broström J, Gillstedt M, Polesie S, Peltonen S
Acta Derm Venereol 2023 Aug 24;103:adv12404. doi: 10.2340/actadv.v103.12404. PMID: 37615526Free PMC Article
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC
Exp Dermatol 2022 Jun;31(6):970-979. Epub 2022 Apr 1 doi: 10.1111/exd.14571. PMID: 35325485Free PMC Article
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E
Exp Dermatol 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. PMID: 29604126
Guerra L, Castori M, Didona B, Castiglia D, Zambruno G
J Eur Acad Dermatol Venereol 2018 May;32(5):704-719. Epub 2018 Mar 24 doi: 10.1111/jdv.14902. PMID: 29489036
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730

Clinical prediction guides

Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC
Int J Mol Sci 2022 Sep 15;23(18) doi: 10.3390/ijms231810765. PMID: 36142674Free PMC Article
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC
Exp Dermatol 2022 Jun;31(6):970-979. Epub 2022 Apr 1 doi: 10.1111/exd.14571. PMID: 35325485Free PMC Article
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E
Exp Dermatol 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. PMID: 29604126
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671

Recent systematic reviews

Polivka L, Bodemer C, Hadj-Rabia S
J Med Genet 2016 May;53(5):289-95. Epub 2015 Sep 23 doi: 10.1136/jmedgenet-2015-103403. PMID: 26399581

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