HRZ
MCID: HRZ001
MIFTS: 31

Huriez Syndrome (HRZ)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Huriez Syndrome

MalaCards integrated aliases for Huriez Syndrome:

Name: Huriez Syndrome 57 20 58 72 13
Sclerotylosis 57 73 20 58 72
Keratoderma with Scleroatrophy of the Extremities 72 29 6 70
Scleroatrophic and Keratotic Dermatosis of Limbs 57 20 72
Hrz 57 20 72
Palmoplantar Keratoderma-Sclerodactyly Syndrome 20 58
Atrophic Fibrosis of the Skin of the Limbs, Hypoplasia of Nails, and Keratodermia of the Palms and Soles 20
Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome 58
Scleroatrophic Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
nail changes are symmetric
milder changes on toenails
squamous cell carcinoma occurs in approximately 15% of affected individuals
squamous cell carcinoma is early onset and aggressive


HPO:

31
huriez syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 181600
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0406767
Orphanet 58 ORPHA384
MedGen 41 C0406767
UMLS 70 C0406767

Summaries for Huriez Syndrome

OMIM® : 57 Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by Lee et al., 2000). See also 610644 for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene (609595). (181600) (Updated 20-May-2021)

MalaCards based summary : Huriez Syndrome, also known as sclerotylosis, is related to palmoplantar keratosis and palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal. An important gene associated with Huriez Syndrome is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and dry skin

UniProtKB/Swiss-Prot : 72 Huriez syndrome: An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome.

Wikipedia : 73 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Huriez Syndrome

Diseases related to Huriez Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 10.3
2 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 10.2
3 keratosis 10.2
4 skin carcinoma 10.2
5 erythrokeratoderma ''en cocardes'' 10.2
6 adermatoglyphia 10.1
7 squamous cell carcinoma 10.1
8 iron metabolism disease 10.0
9 basal cell carcinoma 10.0
10 systemic scleroderma 10.0
11 actinic keratosis 10.0
12 nonsyndromic 46,xx testicular disorders of sex development 10.0
13 rare genetic skin disease 10.0
14 anhidrosis 9.9
15 telangiectasis 9.9

Graphical network of the top 20 diseases related to Huriez Syndrome:



Diseases related to Huriez Syndrome

Symptoms & Phenotypes for Huriez Syndrome

Human phenotypes related to Huriez Syndrome:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
3 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
4 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
5 small nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001792
6 sclerodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011838
7 abnormality of the nail 58 Very frequent (99-80%)
8 neoplasm 31 HP:0002664
9 tapered finger 31 HP:0001182
10 epidermal acanthosis 31 HP:0025092
11 congenital palmoplantar keratodermia 31 HP:0007597

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
fissures
nail hypoplasia
thin nail plates
longitudinal ridges
angle formation
more
Skeletal Hands:
tapered fingers

Neoplasia:
squamous cell carcinoma (in areas of scleroatrophic skin) <g,h

Skin Nails Hair Skin Histology:
prominent granular cell layer
acanthotic epidermis
hyperorthokeratosis
fibrosis in upper and mid-dermis, mild
increased number of blood vessels
more
Skin Nails Hair Skin:
abnormal or absent dermatoglyphic pattern
palmoplantar hypohidrosis
palmoplantar keratoderma, mild
accentuated palmoplantar creases
congenital scleroatrophy of hands and feet
more

Clinical features from OMIM®:

181600 (Updated 20-May-2021)

Drugs & Therapeutics for Huriez Syndrome

Search Clinical Trials , NIH Clinical Center for Huriez Syndrome

Genetic Tests for Huriez Syndrome

Genetic tests related to Huriez Syndrome:

# Genetic test Affiliating Genes
1 Keratoderma with Scleroatrophy of the Extremities 29 SMARCAD1

Anatomical Context for Huriez Syndrome

MalaCards organs/tissues related to Huriez Syndrome:

40
Skin

Publications for Huriez Syndrome

Articles related to Huriez Syndrome:

(show all 30)
# Title Authors PMID Year
1
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility. 57 6 61
29409814 2018
2
A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. 61 6 57
10631162 2000
3
The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis. 6 57
8731679 1996
4
[A gene dysplasia not previously known: frequently degenerative sclero-atrophying and keratodermic genodermatosis of the extremities]. 57 6
4298032 1968
5
Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. 57 61
8546996 1995
6
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. 6
24909267 2014
7
The scleroatrophic syndrome of Huriez. 57
9274637 1997
8
Marjolin's ulcer: a review and reevaluation of a difficult problem. 57
2246317 1990
9
[Sclero-atrophying and keratodermic genodermatosis of the extremities (apropos of 3 recent familial cases)]. 57
157099 1978
10
[Sclero-atrophic and keratodermic genodermatosis of the extremities]. 57
147643 1977
11
[Apropos of 28 cases of epidermolysis bullosa in 11 families of which 1 family was studied from the genetic point of view without discovery of evidnece of linkage]. 57
5712981 1968
12
Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1. 61
33400266 2021
13
Huriez syndrome associated with basal cell carcinoma. A case report. 61
32690823 2020
14
[Huriez syndrome finally explained: Haploinsufficiency of a gene involved in homologous recombination DNA repair]. 61
30415931 2018
15
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome. 61
29765964 2018
16
Huriez syndrome with superadded dermatophyte infection. 61
27559505 2016
17
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. 61
26902751 2016
18
Poikiloderma a varied presentation - Huriez syndrome. 61
25657913 2015
19
[Case report: squamous cell carcinoma, radial forearm flap and Huriez syndrome. Focus on a rare pathology]. 61
21885179 2013
20
Claude Huriez and his syndrome. 61
22165047 2011
21
Huriez syndrome with squamous cell carcinoma. 61
21382785 2011
22
Huriez syndrome. 61
18797084 2008
23
[Squamous cell carcinoma in Huriez syndrome]. 61
18374867 2008
24
[Huriez syndrome]. 61
16230933 2005
25
Huriez syndrome: association with squamous cell carcinoma and a surgical approach. 61
16079734 2005
26
A nonfamilial Japanese case of Huriez syndrome: p53 expression in squamous cell carcinoma. 61
12835558 2003
27
Huriez syndrome: case report with a detailed analysis of skin dendritic cells. 61
11069529 2000
28
An SRY-negative XX male with Huriez syndrome. 61
10733237 2000
29
Palmoplantar keratoderma with sclerodactyly (Huriez syndrome). 61
1613149 1992
30
[Sclero-atrophic keratodermal genodermatosis of the extremities (sclerotylosis) (author's transl)]. 61
670936 1978

Variations for Huriez Syndrome

ClinVar genetic disease variations for Huriez Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCAD1 NM_001128430.2(SMARCAD1):c.1281+649_1281+666del Deletion Pathogenic 620663 rs1560542180 GRCh37: 4:95174807-95174824
GRCh38: 4:94253656-94253673
2 SMARCAD1 NM_001128430.2(SMARCAD1):c.1281+666dup Duplication Pathogenic 620664 rs1560542214 GRCh37: 4:95174823-95174824
GRCh38: 4:94253672-94253673
3 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+666T>C SNV Pathogenic 187777 rs1114167276 GRCh37: 4:95174824-95174824
GRCh38: 4:94253673-94253673

Cosmic variations for Huriez Syndrome:

9 (show all 19)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122271260 TP53 skin,upper extremity,carcinoma,NS c.422G>A p.R141H 17:7673802-7673802 9
2 COSM121875541 TP53 skin,upper extremity,carcinoma,NS c.422G>A p.R141H 17:7673802-7673802 9
3 COSM144013089 TP53 skin,upper extremity,carcinoma,NS c.785G>A p.R262H 17:7673802-7673802 9
4 COSM112253106 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
5 COSM105619828 TP53 skin,upper extremity,carcinoma,NS c.782+379G>A p.? 17:7673802-7673802 9
6 COSM142559879 TP53 skin,upper extremity,carcinoma,NS c.701G>A p.R234H 17:7673802-7673802 9
7 COSM143370575 TP53 skin,upper extremity,carcinoma,NS c.701G>A p.R234H 17:7673802-7673802 9
8 COSM143156594 TP53 skin,upper extremity,carcinoma,NS c.341G>A p.R114H 17:7673802-7673802 9
9 COSM142837073 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
10 COSM93183281 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
11 COSM144650760 TP53 skin,upper extremity,carcinoma,NS c.701G>A p.R234H 17:7673802-7673802 9
12 COSM106052890 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
13 COSM144309924 TP53 skin,upper extremity,carcinoma,NS c.701G>A p.R234H 17:7673802-7673802 9
14 COSM145017297 TP53 skin,upper extremity,carcinoma,NS c.701G>A p.R234H 17:7673802-7673802 9
15 COSM87897711 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
16 COSM143943546 TP53 skin,upper extremity,carcinoma,NS c.341G>A p.R114H 17:7673802-7673802 9
17 COSM122733862 TP53 skin,upper extremity,carcinoma,NS c.422G>A p.R141H 17:7673802-7673802 9
18 COSM111758217 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 9
19 COSM144086947 TP53 skin,upper extremity,carcinoma,NS c.341G>A p.R114H 17:7673802-7673802 9

Expression for Huriez Syndrome

Search GEO for disease gene expression data for Huriez Syndrome.

Pathways for Huriez Syndrome

GO Terms for Huriez Syndrome

Sources for Huriez Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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