Rare Pulmonology News

Disease Profile

Circumferential skin creases Kunze type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

(CSC-KT); Michelin tire baby syndrome

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

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. [1][2] 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.[1][3]

In some cases, CSC-KT is caused by changes (mutations) in the TUBB gene or in the MAPRE2 gene.[1][4][5] 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.[2] Inheritance is autosomal dominant.[4][5] 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.[6] 

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.[1][6] Cases of CSC-KT caused by mutations in the MAPRE2 gene may be more specifically called congenital symmetric circumferential skin creases-2 (CSCSC2).[4][5]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Edema
Fluid retention
Water retention

[ more ]

0000969
Increased number of skin folds
0007522
Thickened skin
Thick skin
0001072
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Irregular hyperpigmentation
0007400
5%-29% of people have these symptoms
Abnormality of the musculature
Muscular abnormality
0003011
Cerebellar vermis atrophy
0006855
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dandy-Walker malformation
0001305
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
External ear malformation
0008572
Generalized hirsutism
Excessive hairiness over body
0002230
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypospadias
0000047
Inguinal hernia
0000023
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Localized neuroblastoma
0006768
Long fingers
0100807
Long philtrum
0000343
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Low-set, posteriorly rotated ears
0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Pectus excavatum
Funnel chest
0000767
Retinopathy
Noninflammatory retina disease
0000488
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Short stature
Decreased body height
Small stature

[ more ]

0004322
Umbilical hernia
0001537
Upper limb asymmetry
Unequal size of arms
0100560
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology
0030680
Abnormality of the skin
0000951
Autosomal dominant inheritance
0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachycephaly
Short and broad skull
0000248
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Flat face
Flat facial shape
0012368
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic nipples
Small nipples
0002557
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Motor delay
0001270
Narrow mouth
Small mouth
0000160
Periorbital fullness
Puffiness around eye
0000629
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Short neck
Decreased length of neck
0000470
Short palpebral fissure
Short opening between the eyelids
0012745
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Circumferential skin creases Kunze type. Click on the link to view a sample search on this topic.

References

  1. Dentici ML, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio MC & Dallapiccola B. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. Clin Genet. June, 2018; 93(6):1223-1228. https://www.ncbi.nlm.nih.gov/pubmed/29427453.
  2. Rothman IL. Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. Pediatr Dermatol. NovemberDecember, 2014; 31(6):659-63. https://www.ncbi.nlm.nih.gov/pubmed/25424205.
  3. Ramphul K, Mejias SG, Ramphul-Sicharam Y. A Rare Case of Michelin Tire Baby Syndrome in a Newborn. Cureus. 2018; 10(2):e2222. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914916/.
  4. Isrie M, Breuss M, Tian G, et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.. American Journal of Human Genetics. 2015; 97(6):790-800. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678434/.
  5. Congenital symmetric circumferential skin creases-1. OMIM. 2016; https://www.omim.org/entry/156610.
  6. Bahi-Buisson N, Cavallin M. Tubulinopathies Overview. GeneReviews. March 24, 2016; https://www.ncbi.nlm.nih.gov/books/NBK350554/.