Michelin tire baby syndrome
Classification according to ICD-10 | |
---|---|
Q82.8 | Other specified congenital skin malformations |
ICD-10 online (WHO version 2019) |
The Michelin tire baby syndrome is a very rare congenital disease with the main features numerous annular skin folds on the limbs .
Synonyms are: Michelin Tire Baby Syndrome; Skin folds, multiple, annular; Skin folds, multiple ring-shaped, of the extremities; Congenital annular skin folds; Skin folds, ring-shaped, Kunze type; Kunze-Riehm syndrome; English Michelin tire baby syndrome; MTBS; Congenital Circumferential Skin Folds; CCSF
The name refers to the Michelin man, officially Bibendum , the Michelin company's advertising figure .
The first description is from 1969 by CM Ross. The disease was described as a new genetic syndrome in 1982.
There may be a relationship with the nevus lipomatodes cutaneus superficialis (NLCS; Hoffmann-Zurhelle).
distribution
The frequency is unknown; around 20 people have been reported to have been affected. Inheritance occurs as an autosomal dominant or autosomal - recessive .
The disease may also occur in the context of rare syndromes .
root cause
Depending on the underlying mutation , two types can be distinguished:
- Type 1 , mutations in TUBB - gene on chromosome 6 locus p21.33
- Type 2 , mutations in MAPRE2 - gene on chromosome 18 locus q12.1-12.2
Clinical manifestations
Clinical criteria are:
- Manifestation in childhood
- generalized, symmetrical, ring-shaped skin folds on the limbs and trunk without constrictions, strangulations or complications
- no longer detectable in adulthood
Associated to cleft palate , neuroblastoma , ureterocele , cramps , hemihypertrophy or nevus lipomatosus occur.
diagnosis
The diagnosis is based on clinical findings.
Differential diagnosis
The cutis verticis gyrata is to be delimited .
therapy
Treatment is usually not required, the changes recede spontaneously.
literature
- F. Malik, L. Malik, S. Aziz, J. Ahmed, F. Tahir: Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. In: Cureus. Volume 11, number 9, September 2019, p. E5619, doi: 10.7759 / cureus.5619 , PMID 31696012 , PMC 6820885 (free full text).
- K. Ramphul, SG Mejias, Y. Ramphul-Sicharam: A Rare Case of Michelin Tire Baby Syndrome in a Newborn. In: Cureus. Volume 10, number 2, February 2018, p. E2222, doi: 10.7759 / cureus.2222 , PMID 29696100 , PMC 5914916 (free full text)
- IL Rothman: Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. In: Pediatric dermatology. Volume 31, number 6, 2014 Nov-Dec, pp. 659-663, doi: 10.1111 / pde.12432 , PMID 25424205 (review).
- GA Farooqi, SA Mulla, M. Ahmad: Michelin tire baby syndrome - a case report and literature review. In: JPMA. The Journal of the Pakistan Medical Association. Volume 60, Number 9, September 2010, pp. 777-779, PMID 21381593 (review).
Individual evidence
- ↑ a b c d e Multiple benign ring-shaped skin folds of the extremities. In: Orphanet (Rare Disease Database).
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ CM Ross: Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby". In: Archives of dermatology. Volume 100, Number 3, September 1969, pp. 320-323, PMID 4980758 .
- ↑ J. Kunze, H. Riehm: A new genetic disorder: autosomal-dominant multiple benign ring-shaped skin creases. In: European Journal of Pediatrics. Volume 138, Number 4, July 1982, pp. 301-303, doi: 10.1007 / bf00442501 , PMID 7128636 .
- ↑ Encyclopedia Dermatology
- ↑ T. Kondoh, J. Eguchi, Y. Hamasaki, T. Doi, E. Kinoshita, T. Matsumoto, K. Abe, Y. Ohtani, H. Moriuchi: Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report. In: American journal of medical genetics. Part A. Volume 125A, number 3, March 2004, pp. 290-292, doi: 10.1002 / ajmg.a.20461 , PMID 14994239 (review).
- ↑ Symmetric Circumferential skin creases, congenital, 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ Symmetric Circumferential skin creases, congenital, 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ K. Sardana, V. Mendiratta, N. Kakar, RC Sharma, RV Koranne, S. Sethi: Spontaneously improving Michelin tire baby syndrome. In: Pediatric dermatology. Volume 20, number 2, 2003 Mar-Apr, pp. 150-152, doi: 10.1046 / j.1525-1470.2003.20212.x , PMID 12657014 (review).