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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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
- Hypotrichosis-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: 32147745 Free 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: 26381864 Free 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

See all (19)

Recent clinical studies

Etiology

Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.

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

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: 32147745 Free 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

See all (112)

Diagnosis

Olmsted Syndrome.

Huang YY, Li JH
JAMA Dermatol 2024 Feb 1;160(2):218-219. doi: 10.1001/jamadermatol.2023.4152. PMID: 38055272

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

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: 32147745 Free 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

See all (324)

Therapy

Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.

Butala S, Phan S, Siegel DH, Carlberg V, Paller AS
Pediatr Dermatol 2023 Jul-Aug;40(4):735-737. Epub 2023 Jan 29 doi: 10.1111/pde.15264. PMID: 36709954

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

Reiter's syndrome: the classic triad and more.

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

See all (116)

Prognosis

Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.

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: 37615526 Free PMC Article

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

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P
J Invest Dermatol 2017 Apr;137(4):845-854. Epub 2016 Dec 23 doi: 10.1016/j.jid.2016.12.010. PMID: 28017832 Free 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

See all (109)

Clinical prediction guides

Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.

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.

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: 25886873 Free PMC Article

Olmsted syndrome.

Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

See all (129)