HRZ
MCID: HRZ001
MIFTS: 27

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 58 60 13
Sclerotylosis 58 77 60
Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome 60
Keratoderma with Scleroatrophy of the Extremities 74
Scleroatrophic and Keratotic Dermatosis of Limbs 58
Palmoplantar Keratoderma-Sclerodactyly Syndrome 60
Scleroatrophic Syndrome 60
Hrz 58

Characteristics:

OMIM:

58
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:

33
huriez syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 181600
ICD10 34 L86
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0406767
Orphanet 60 ORPHA384
MedGen 43 C0406767
UMLS 74 C0406767

Summaries for Huriez Syndrome

OMIM : 58 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)

MalaCards based summary : Huriez Syndrome, also known as sclerotylosis, is related to palmoplantar keratoderma-sclerodactyly syndrome and squamous cell carcinoma. 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 lack of skin elasticity

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma-sclerodactyly syndrome 11.5
2 squamous cell carcinoma 10.3
3 adermatoglyphia 10.2
4 skin carcinoma 10.2
5 systemic scleroderma 10.0
6 palmoplantar keratosis 10.0

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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
2 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
3 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
4 small nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001792
5 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
6 sclerodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0011838
7 abnormality of the nail 60 Very frequent (99-80%)
8 neoplasm 33 HP:0002664
9 congenital palmoplantar keratodermia 33 HP:0007597

Symptoms via clinical synopsis from OMIM:

58
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
Neoplasia:
squamous cell carcinoma (in areas of scleroatrophic skin) <g,h

Skeletal Hands:
tapered fingers

Skin Nails Hair Nails:
nail hypoplasia
thin nail plates
longitudinal ridges
angle formation
fissures
more

Clinical features from OMIM:

181600

Drugs & Therapeutics for Huriez Syndrome

Search Clinical Trials , NIH Clinical Center for Huriez Syndrome

Genetic Tests for Huriez Syndrome

Anatomical Context for Huriez Syndrome

MalaCards organs/tissues related to Huriez Syndrome:

42
Skin

Publications for Huriez Syndrome

Articles related to Huriez Syndrome:

(show all 16)
# Title Authors Year
1
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility. ( 29409814 )
2018
2
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome. ( 29765964 )
2018
3
Huriez syndrome with superadded dermatophyte infection. ( 27559505 )
2016
4
Poikiloderma a varied presentation - Huriez syndrome. ( 25657913 )
2015
5
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. ( 24909267 )
2014
6
Huriez syndrome with squamous cell carcinoma. ( 21382785 )
2011
7
Huriez syndrome. ( 18797084 )
2008
8
Huriez syndrome: association with squamous cell carcinoma and a surgical approach. ( 16079734 )
2005
9
A nonfamilial Japanese case of Huriez syndrome: p53 expression in squamous cell carcinoma. ( 12835558 )
2003
10
A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. ( 10631162 )
2000
11
An SRY-negative XX male with Huriez syndrome. ( 10733237 )
2000
12
Huriez syndrome: case report with a detailed analysis of skin dendritic cells. ( 11069529 )
2000
13
The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis. ( 8731679 )
1996
14
Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. ( 8546996 )
1995
15
Palmoplantar keratoderma with sclerodactyly (Huriez syndrome). ( 1613149 )
1992
16
[A gene dysplasia not previously known: frequently degenerative sclero-atrophying and keratodermic genodermatosis of the extremities]. ( 4298032 )
1968

Variations for Huriez Syndrome

ClinVar genetic disease variations for Huriez Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666T> C single nucleotide variant Pathogenic rs1114167276 GRCh38 Chromosome 4, 94253673: 94253673
2 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666T> C single nucleotide variant Pathogenic rs1114167276 GRCh37 Chromosome 4, 95174824: 95174824
3 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+649_1281+666del deletion Pathogenic GRCh38 Chromosome 4, 94253656: 94253673
4 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+649_1281+666del deletion Pathogenic GRCh37 Chromosome 4, 95174807: 95174824
5 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666dup duplication Pathogenic GRCh38 Chromosome 4, 94253673: 94253673
6 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666dup duplication Pathogenic GRCh37 Chromosome 4, 95174824: 95174824

Cosmic variations for Huriez Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10660 TP53 skin,upper extremity,carcinoma,NS c.818G>A p.R273H 17:7673802-7673802 0

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
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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