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Year : 2020  |  Volume : 21  |  Issue : 2  |  Page : 147-149

Michelin tire baby syndrome and achondroplasia: A rare association

Department of Paediatrics, R.G. Kar Medical College and Hospital, Kolkata, West Bengal, India

Date of Submission12-Oct-2019
Date of Decision23-Oct-2019
Date of Acceptance01-Dec-2019
Date of Web Publication01-Apr-2020

Correspondence Address:
Sayan Banerjee
Rashdeep Apartment, 53A, Dr. S.C. Banerjee Road, Block A, Flat No. 201 Kolkata - 700 010, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_100_19

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Michelin tire baby (MTB) syndrome is a rare genodermatosis characterized by generalized excessive skin folds. It is known to be associated with various syndromes and phenotypic abnormalities. It is mainly a clinical diagnosis, and its exact pathogenesis remains unclear. Herein, we report an association of MTB with achondroplasia which has not been reported of previously.

Keywords: Achondroplasia, Michelin tire, skinfolds

How to cite this article:
Banerjee S, Das P, Das GC. Michelin tire baby syndrome and achondroplasia: A rare association. Indian J Paediatr Dermatol 2020;21:147-9

How to cite this URL:
Banerjee S, Das P, Das GC. Michelin tire baby syndrome and achondroplasia: A rare association. Indian J Paediatr Dermatol [serial online] 2020 [cited 2021 Jan 18];21:147-9. Available from: https://www.ijpd.in/text.asp?2020/21/2/147/281720

  Introduction Top

Michelin tire baby (MTB), also known as Kunze-Riehm disease, is a rare disease of unclear etiology,[1] manifesting clinically as symmetric ring-like excessive skin folds mostly affecting the extremities. The disease derives its name from the physical resemblance to the “Michelin Man” cartoon mascot of a French tire manufacturer. It was first described by Ross[2] in 1969, and only about forty cases have been reported worldwide till date. It is a clinical diagnosis per se. The skin folds gradually decrease with age. MTB can be an isolated condition or may be associated with various congenital anomalies.[3] Familial cases of MTB suggest an autosomal dominant (AD) mode of inheritance.[4] Achondroplasia is also known to be inherited in an AD pattern.[5] Here, we report a case of a neonate with MTB and achondroplasia.

  Case Report Top

A late preterm male baby, born of a nonconsanguineous marriage at 35 weeks of gestational age, presented to us on day 1 of life with excessive skin folds [Figure 1]. The pregnancy was uneventful, and the mother was a booked case. There was no similar family history.
Figure 1: The affected infant

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The child was delivered by a cesarean section with an APGAR score of 5/10 at 1 min and 7/10 at 5 min, respectively. He had a birth weight of 2.05 kg (10th–50th percentile) and length of 42 cm (10th percentile). The occipitofrontal circumference was noted to be 33 cm (90th percentile). The upper segment to lower segment ratio was 2:1.

A physical examination revealed multiple, symmetric skin folds over extremities [Figure 2], frontal bossing, midfacial hypoplasia, anteverted nares, and a narrow chest. He also had short fingers with hands appearing like a trident along with rhizomelic shortening. The musculoskeletal system examination revealed mild generalized hypotonia with hyperextensible joints. The rest of the systemic examination was unremarkable.
Figure 2: Photograph showing excessive skin foldings

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Over the following days, X-rays (cranium, spine, chest, pelvis, and limbs), ultrasonography (USG) of brain and whole abdomen, echocardiography, and karyotyping were performed. Skiagrams revealed a large cranial vault with narrow skull base [Figure 3], shortening of long bones with metaphyseal flaring, trident hand, reduced anteroposterior diameter of the thorax with flaring of anterior ribs, progressively reduced interpedicular distance with posterior scalloping of lumbar vertebrae, flat acetabular roof, champagne-shaped pelvic inlet, and small squaring of iliac wings. The USG, echocardiography and karyotyping reports were normal.
Figure 3: The X-ray cranium showing large cranial vault with narrow skull base

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The parents did not give their consent for a skin biopsy, and genetic testing for achondroplasia could not be undertaken due to financial constraints.

  Discussion Top

MTB is a rare disorder, characterized by excessive skin folding, mainly in the extremities but can also involve palms, soles, and trunk.[1] The etiology and pathogenesis are still unknown. As mentioned earlier, the familial cases have been reported to have an AD pattern of inheritance. It may or may not be associated with chromosomal abnormalities. Although the deletion of the short arm of chromosome 7 and paracentric inversion of the long arm of chromosome 11 have been implicated as the cytogenetic abnormalities in a few cases,[6] our case revealed a normal karyotype.

The most common histological findings in the affected skin of MTB are smooth muscle hamartoma and nevus lipomatosus (with or without overlying hypertrichosis).[6]

The various anomalies known to be associated with MTB include craniofacial abnormalities, microcephaly, cleft lip and palate, thickened epiglottis, congenital heart disease, left-sided hemihypertrophy, hemiplegia, inguinal and umbilical hernia, hypoplastic scrotum, joint hypermobility, and stellate scarring. Epilepsy, developmental delay, growth retardation, and psychomotor retardation have also been reported. On the literature search, we found a case of it being associated with panhypopituitarism. MTB has been reported in otherwise healthy individuals too.[6]

In our case, MTB occurred in association with achondroplasia both of which are inherited in an AD fashion.[4] Achondroplasia is the most common cause of dwarfism.[5] More than 95% of the patients have point mutation in the fibroblast growth factor receptor 3 gene, and the diagnosis can also be confirmed radiologically.[7] Due to financial constraints, genetic testing for achondroplasia could not be performed, and clinical and radiological findings were based upon to arrive at the diagnosis. The neonate left against medical advice and was lost to follow-up.

Sardana et al.[8] have reported a case of spontaneously improving MTB syndrome (MTBS). The second case of MTBS from India has been reported by Palit and Inamadar.[1] Metta et al. have reported the first case of familial MTBS from India of a mother and her male child.[9] The MTB case reported by Vora et al.[1] is said to be the fifth case in India by the authors. To our knowledge, this is the first case to be associated with achondroplasia and the sixth case of MTB from India.


The authors would like to thank Dr. Sutirtha Roy, Facility in Charge, NICU, Department of Pediatrics, R.G. Kar Medical College and Hospital, Kolkata (General support).

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Vora RV, Pilani AP, Diwan NG, Rahul Krishna S. Miochelin tire baby syndrome. Indian J Paediatr Dermatol 2016;17:226-8.  Back to cited text no. 1
  [Full text]  
Ross CM. Generalized folded skin with an underlying lipomatous nevus. “The Michelin Tire baby”. Arch Dermatol 1969;100:320-3.  Back to cited text no. 2
Kunze J, Riehm H. A new genetic disorder: Autosomal-dominant multiple benign ring-shaped skin creases. Eur J Pediatr 1982;138:301-3.  Back to cited text no. 3
Niikawa N, Ishikiriyama S, Shikimani T. The “Michelin tire baby” syndrome-an autosomal dominant trait. Am J Med Genet 1985;22:637-8.  Back to cited text no. 4
Chiruvolu A, Anderson JM. A term newborn with congenital dwarfism. Neoreviews 2006;7:e280-4.  Back to cited text no. 5
Haghshenas Z, Tajziehchi L, Ghavami F. Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl. Arch Iran Med 2014;17:585-6.  Back to cited text no. 6
Arun P, Gagandeep V, Moinuddin KM, Nagabhushan BM. A term female neonate with achondroplasia: A case report. Indian J Neonatal Med Res 2017;5:NC01-2.  Back to cited text no. 7
Sardana K, Mendiratta V, Kakar N, Sharma RC, Koranne RV, Sethi S. Spontaneously improving Michelin tire baby syndrome. Pediatr Dermatol. 2003;20:150-2.  Back to cited text no. 8
Metta AK, Ramachandra S, Manupati S. Familial Michelin tire baby syndrome. Indian J Dermatol 2012;57:74-6.  Back to cited text no. 9
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