CSCSC1
MCID: SKN063
MIFTS: 30

Skin Creases, Congenital Symmetric Circumferential, 1 (CSCSC1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Skin Creases, Congenital Symmetric Circumferential, 1

MalaCards integrated aliases for Skin Creases, Congenital Symmetric Circumferential, 1:

Name: Skin Creases, Congenital Symmetric Circumferential, 1 58 76
Michelin Tire Baby Syndrome 58 77 54 76 74
Skin Creases, Multiple Benign Ring-Shaped, of Limbs 58 76
Circumferential Skin Creases, Kunze Type 58 76
Circumferential Skin Creases Kunze Type 54 76
Cscsc1 58 76
Symmetric Circumferential Skin Creases, Congenital, 1 58
Multiple Benign Ring-Shaped Skin Creases of Limbs 76
Michelin-Tire Baby 6
Csc-Kt 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
spontaneous improvement or resolution of skin creases in childhood
based on report of 3 unrelated children (last curated january 2016)


HPO:

33
skin creases, congenital symmetric circumferential, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Skin Creases, Congenital Symmetric Circumferential, 1

NIH Rare Diseases : 54 Circumferential skin creases Kunze type (CSC-KT) is a rare congenital disorder that affects the skin, but can also affect other areas of the body. Babies with CSC-KT are born with excess skin that folds over to form thin rings (creases) that circle the arms and legs. CSC-KT was originally called the �??Michelin tire baby syndrome�?� because of the similarity of the rings on the arms and legs to the cartoon mascot of the French company. The rings on the arms and legs are usually found on both sides of the body. These skin folds do not cause any problems and typically disappear naturally as the child grows. In some cases other features are associated with CDC-KT including cleft palate,  delayed growth, development delay, intellectual disability, genital abnormalities, seizures, changes in the way the brain developed (brain malformations), and/or changes in the way other organs of the body developed. Some people may have unusual facial features including narrow eye openings (blepharophimosis), very small eyes (microphthalmia) wide spaced eyes (hypertelorism), skin of the upper eyelid covering the inner corner of the eye (epicanthal folds), crossed eyes (strabismus), broad nasal bridge, low�?�set ears, and a very small mouth. In some cases, CSC-KT is caused by changes (mutations) in the TUBB gene or in the MAPRE2 gene. CSC-KT is very rare, and there are fewer than 50 cases reported in the medical journals. Diagnosis is made based on the presence of multiple rings of folded excess skin on the arms and/or legs and other common features. Inheritance is autosomal dominant. No treatment may be needed if the rings of excess skin are the only birth defect. Treatment of other associated features may include early intervention, physical therapy, occupational therapy, speech therapy, anti-seizure medication, and surgery to correct birth defects such as cleft palate or genital abnormalities.  CSC-KT caused by mutations in the TUBB and MAPRE2 gene may be classified under the group of diseases known as tubulinopathies, because like the mutations causing other tubulinopathies, mutations in the TUBB and MAPRE2 gene  affect a cell structure known as microtubule. Problems with the development of the brain (brain malformations) are common to all the tubulinopathies. Cases of CSC-KT caused by mutations in the MAPRE2 gene may be more specifically called congenital symmetric circumferential skin creases-2 (CSCSC2).

MalaCards based summary : Skin Creases, Congenital Symmetric Circumferential, 1, also known as michelin tire baby syndrome, is related to multiple benign circumferential skin creases on limbs and skin creases, congenital symmetric circumferential, 2. An important gene associated with Skin Creases, Congenital Symmetric Circumferential, 1 is TUBB (Tubulin Beta Class I). Affiliated tissues include skin, brain and smooth muscle, and related phenotypes are pectus excavatum and micrognathia

OMIM : 58 Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). (156610)

UniProtKB/Swiss-Prot : 76 Skin creases, congenital symmetric circumferential, 1: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.

Wikipedia : 77 Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple,... more...

Related Diseases for Skin Creases, Congenital Symmetric Circumferential, 1

Diseases in the Skin Creases, Congenital Symmetric Circumferential, 1 family:

Skin Creases, Congenital Symmetric Circumferential, 2

Diseases related to Skin Creases, Congenital Symmetric Circumferential, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple benign circumferential skin creases on limbs 12.0
2 skin creases, congenital symmetric circumferential, 2 11.2

Symptoms & Phenotypes for Skin Creases, Congenital Symmetric Circumferential, 1

Human phenotypes related to Skin Creases, Congenital Symmetric Circumferential, 1:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 occasional (7.5%) HP:0000767
2 micrognathia 33 occasional (7.5%) HP:0000347
3 microphthalmia 33 occasional (7.5%) HP:0000568
4 upslanted palpebral fissure 33 occasional (7.5%) HP:0000582
5 microcornea 33 occasional (7.5%) HP:0000482
6 dandy-walker malformation 33 occasional (7.5%) HP:0001305
7 cerebellar vermis atrophy 33 occasional (7.5%) HP:0006855
8 generalized hypotonia 33 occasional (7.5%) HP:0001290
9 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
10 long fingers 33 occasional (7.5%) HP:0100807
11 hypertelorism 33 HP:0000316
12 low-set ears 33 HP:0000369
13 short neck 33 HP:0000470
14 high palate 33 HP:0000218
15 intellectual disability 33 HP:0001249
16 delayed speech and language development 33 HP:0000750
17 microcephaly 33 HP:0000252
18 brachycephaly 33 HP:0000248
19 cleft palate 33 HP:0000175
20 epicanthus 33 HP:0000286
21 periorbital fullness 33 HP:0000629
22 flat face 33 HP:0012368
23 wide intermamillary distance 33 HP:0006610
24 motor delay 33 HP:0001270
25 narrow mouth 33 HP:0000160
26 blepharophimosis 33 HP:0000581
27 abnormality of cardiovascular system morphology 33 HP:0030680
28 hypoplastic nipples 33 HP:0002557
29 abnormality of the skin 33 HP:0000951
30 short palpebral fissure 33 HP:0012745
31 posteriorly rotated ears 33 HP:0000358
32 localized neuroblastoma 33 HP:0006768

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
periorbital fullness
blepharophimosis
epicanthal folds
short palpebral fissures
more
Head And Neck Neck:
short neck
circumferential skin folds of neck (in some patients)

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
flat face
micrognathia (in some patients)

Chest Breasts:
hypoplastic nipples
widely spaced nipples
high position of nipples

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (rare)

Skeletal Feet:
skin syndactyly between second and third toes (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
thick, overfolded helices

Head And Neck Mouth:
high palate
cleft palate
microstomia

Skeletal Skull:
microcephaly
brachycephaly

Neurologic Central Nervous System:
motor delay
dandy-walker malformation (rare)
mental retardation, mild to profound
speech delay, mild
hypotonia, mild (rare)
more
Head And Neck Nose:
broad depressed nasal bridge

Skeletal Hands:
long fingers (in some patients)

Skin Nails Hair Skin:
circumferential skin creases on extremities
circumferential skin creases on neck (in some patients)

Clinical features from OMIM:

156610

Drugs & Therapeutics for Skin Creases, Congenital Symmetric Circumferential, 1

Search Clinical Trials , NIH Clinical Center for Skin Creases, Congenital Symmetric Circumferential, 1

Genetic Tests for Skin Creases, Congenital Symmetric Circumferential, 1

Anatomical Context for Skin Creases, Congenital Symmetric Circumferential, 1

MalaCards organs/tissues related to Skin Creases, Congenital Symmetric Circumferential, 1:

42
Skin, Brain, Smooth Muscle, Eye

Publications for Skin Creases, Congenital Symmetric Circumferential, 1

Articles related to Skin Creases, Congenital Symmetric Circumferential, 1:

(show all 16)
# Title Authors Year
1
A Rare Case of Michelin Tire Baby Syndrome in a Newborn. ( 29696100 )
2018
2
Case of familial Michelin tire baby syndrome. ( 25726714 )
2015
3
Michelin tire baby syndrome: a case report. ( 26227104 )
2015
4
Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl. ( 25065283 )
2014
5
Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. ( 25424205 )
2014
6
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. ( 23324645 )
2013
7
Familial Michelin tire baby syndrome. ( 22470221 )
2012
8
A case of Michelin tire baby syndrome with a thickened epiglottis. ( 20199417 )
2010
9
Michelin tire baby syndrome--a case report and literature review. ( 21381593 )
2010
10
Self-healing congenital generalized skin creases: Michelin tire baby syndrome. ( 21093673 )
2010
11
Circumferential skin folds in a child: a case of Michelin tire baby syndrome. ( 17314450 )
2007
12
Spontaneously improving Michelin tire baby syndrome. ( 12657014 )
2003
13
Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. ( 8434626 )
1993
14
Michelin-tire baby syndrome resulting from diffuse smooth muscle hamartoma. ( 2694131 )
1989
15
The "Michelin tire baby syndrome": an autosomal dominant trait. ( 3799718 )
1986
16
Folded skin with scarring: Michelin tire baby syndrome? ( 7108000 )
1982

Variations for Skin Creases, Congenital Symmetric Circumferential, 1

UniProtKB/Swiss-Prot genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 1:

76
# Symbol AA change Variation ID SNP ID
1 TUBB p.Gln15Lys VAR_076543 rs864321676
2 TUBB p.Tyr222Phe VAR_076544 rs864321677

ClinVar genetic disease variations for Skin Creases, Congenital Symmetric Circumferential, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh37 Chromosome 6, 30688326: 30688326
2 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh38 Chromosome 6, 30720549: 30720549
3 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh37 Chromosome 6, 30691504: 30691504
4 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh38 Chromosome 6, 30723727: 30723727

Expression for Skin Creases, Congenital Symmetric Circumferential, 1

Search GEO for disease gene expression data for Skin Creases, Congenital Symmetric Circumferential, 1.

Pathways for Skin Creases, Congenital Symmetric Circumferential, 1

GO Terms for Skin Creases, Congenital Symmetric Circumferential, 1

Sources for Skin Creases, Congenital Symmetric Circumferential, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....