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 57 74
Michelin Tire Baby Syndrome 57 75 53 74 72
Skin Creases, Multiple Benign Ring-Shaped, of Limbs 57 74
Circumferential Skin Creases, Kunze Type 57 74
Circumferential Skin Creases Kunze Type 53 74
Michelin-Tire Baby 29 6
Cscsc1 57 74
Symmetric Circumferential Skin Creases, Congenital, 1 57
Multiple Benign Ring-Shaped Skin Creases of Limbs 74
Csc-Kt 74

Characteristics:

OMIM:

57
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:

32
skin creases, congenital symmetric circumferential, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

UMLS 72 C0473586

Summaries for Skin Creases, Congenital Symmetric Circumferential, 1

NIH Rare Diseases : 53 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, eye and smooth muscle, and related phenotypes are pectus excavatum and micrognathia

OMIM : 57 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 : 74 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 : 75 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

Graphical network of the top 20 diseases related to Skin Creases, Congenital Symmetric Circumferential, 1:



Diseases related to Skin Creases, Congenital Symmetric Circumferential, 1

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

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

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

Symptoms via clinical synopsis from OMIM:

57
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

Genetic tests related to Skin Creases, Congenital Symmetric Circumferential, 1:

# Genetic test Affiliating Genes
1 Michelin-Tire Baby 29 TUBB

Anatomical Context for Skin Creases, Congenital Symmetric Circumferential, 1

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

41
Skin, Eye, Smooth Muscle, Brain, Testis

Publications for Skin Creases, Congenital Symmetric Circumferential, 1

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

(show all 34)
# Title Authors PMID Year
1
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. 38 8 71
23324645 2013
2
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 8 71
26637975 2015
3
A second patient with MCA/MR syndrome with multiple circumferential skin creases. 8 71
12239728 2002
4
Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report. 38 8
14994239 2004
5
New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. 38 8
8779319 1996
6
Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. 38 8
8434626 1993
7
The "Michelin tire baby syndrome": an autosomal dominant trait. 38 8
3799718 1986
8
The "Michelin tire baby" syndrome--an autosomal dominant trait. 38 8
4061498 1985
9
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. 38 6
29427453 2018
10
Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. 38 6
25424205 2014
11
Multiple circumferential skin creases: another sign of genetic mosaicism? 8
15384095 2004
12
Michelin tire syndrome: a congenital disorder of elastic fibre formation? 8
9155963 1997
13
Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis? 8
9056567 1997
14
Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome? 8
8723069 1996
15
Folded skin with an underlying cutaneous smooth muscle hamartoma. 8
8251362 1993
16
Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. 8
8436660 1993
17
Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation. 8
8298737 1993
18
Multiple benign circumferential skin creases on limbs--a congenital anomaly existing from the beginning of mankind. 8
3674112 1987
19
A new genetic disorder: autosomal-dominant multiple benign ring-shaped skin creases. 8
7128636 1982
20
Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby". 8
4980758 1969
21
A Rare Case of Michelin Tire Baby Syndrome in a Newborn. 38
29696100 2018
22
Michelin tire baby syndrome: a case report. 38
26227104 2015
23
Case of familial Michelin tire baby syndrome. 38
25726714 2015
24
Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl. 38
25065283 2014
25
Familial Michelin tire baby syndrome. 38
22470221 2012
26
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". 38
21262397 2011
27
Self-healing congenital generalized skin creases: Michelin tire baby syndrome. 38
21093673 2010
28
Michelin tire baby syndrome--a case report and literature review. 38
21381593 2010
29
A case of Michelin tire baby syndrome with a thickened epiglottis. 38
20199417 2010
30
Circumferential skin folds in a child: a case of Michelin tire baby syndrome. 38
17314450 2007
31
Spontaneously improving Michelin tire baby syndrome. 38
12657014 2003
32
[Michelin tire baby syndrome]. 38
11528692 2001
33
Michelin-tire baby syndrome resulting from diffuse smooth muscle hamartoma. 38
2694131 1989
34
Folded skin with scarring: Michelin tire baby syndrome? 38
7108000 1982

Variations for Skin Creases, Congenital Symmetric Circumferential, 1

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 TUBB p.Gln15Lys VAR_076543 rs864321676
2 TUBB p.Tyr222Phe VAR_076544 rs864321677

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

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18 ExPASy
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73 UMLS via Orphanet
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