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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

Diagnosis and Management of Inherited Palmoplantar Keratodermas.
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Disorders of keratinization: diagnosis and management.
Shwayder T
Am J Clin Dermatol 2004;5(1):17-29. doi: 10.2165/00128071-200405010-00004. PMID: 14979740

Recent clinical studies

Etiology

Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Diagnosis and Management of Inherited Palmoplantar Keratodermas.
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Cutaneous paraneoplastic syndromes.
Wick MR, Patterson JW
Semin Diagn Pathol 2019 Jul;36(4):211-228. Epub 2019 Jan 31 doi: 10.1053/j.semdp.2019.01.001. PMID: 30736994
Cutaneous paraneoplasia.
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
Synkinetic blepharoclonus.
Jacome DE
J Neuroophthalmol 2000 Dec;20(4):276-84. PMID: 11130758

Diagnosis

CEDNIK syndrome with phenotypic variability.
Nanda A, Karam TM, AlLafi A
Pediatr Dermatol 2022 Jul;39(4):650-652. Epub 2022 Mar 1 doi: 10.1111/pde.14961. PMID: 35229899
Hereditary Hearing Impairment with Cutaneous Abnormalities.
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
Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Diagnosis and Management of Inherited Palmoplantar Keratodermas.
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Cutaneous paraneoplasia.
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

Therapy

Wilson disease.
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Prevalence and treatment of palmoplantar keratoderma and tinea pedis in patients with Sézary syndrome.
Martin SJ, Duvic M
Int J Dermatol 2012 Oct;51(10):1195-8. doi: 10.1111/j.1365-4632.2011.05204.x. PMID: 22994666
The hand-foot-syndrome associated with medical tumor therapy - classification and management.
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
Hereditary palmoplantar keratodermas.
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
KID syndrome.
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

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.
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
Cutaneous paraneoplasia.
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
Epidermal manifestations of internal malignancy.
Moore RL, Devere TS
Dermatol Clin 2008 Jan;26(1):17-29, vii. doi: 10.1016/j.det.2007.08.008. PMID: 18023768
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Clinical prediction guides

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U
Clin Genet 2022 Sep;102(3):201-217. Epub 2022 Jul 12 doi: 10.1111/cge.14177. PMID: 35699517
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Olmsted syndrome.
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
Olmsted syndrome.
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Recent systematic reviews

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
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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