Literature DB >> 14994239

Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.

Tatsuro Kondoh1, Jiro Eguchi, Yoichiro Hamasaki, Tomoki Doi, Eiichi Kinoshita, Tadashi Matsumoto, Kuniko Abe, Yoshinobu Ohtani, Hiroyuki Moriuchi.   

Abstract

We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome. Copyright 2003 Wiley-Liss, Inc.

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Year:  2004        PMID: 14994239     DOI: 10.1002/ajmg.a.20461

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  6 in total

1.  New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Authors:  Lina Basel-Vanagaite; Eli Sprecher; Andrea Gat; Paul Merlob; Adi Albin-Kaplanski; Osnat Konen; Benjamin D Solomon; Maximilian Muenke; Karl-H Grzeschik; Lea Sirota
Journal:  Pediatr Dermatol       Date:  2011-10-13       Impact factor: 1.588

2.  Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Authors:  Mala Isrie; Martin Breuss; Guoling Tian; Andi Harley Hansen; Francesca Cristofoli; Jasmin Morandell; Zachari A Kupchinsky; Alejandro Sifrim; Celia Maria Rodriguez-Rodriguez; Elena Porta Dapena; Kurston Doonanco; Norma Leonard; Faten Tinsa; Stéphanie Moortgat; Hakan Ulucan; Erkan Koparir; Ender Karaca; Nicholas Katsanis; Valeria Marton; Joris Robert Vermeesch; Erica E Davis; Nicholas J Cowan; David Anthony Keays; Hilde Van Esch
Journal:  Am J Hum Genet       Date:  2015-12-03       Impact factor: 11.025

3.  Familial Michelin tire baby syndrome.

Authors:  Arun Kumar Metta; S Ramachandra; Shilpa Manupati
Journal:  Indian J Dermatol       Date:  2012-01       Impact factor: 1.494

4.  Michelin Tire Baby Syndrome: A Rare Case with Review of Literature.

Authors:  Farheen Malik; Laraib Malik; Sina Aziz; Jawad Ahmed; Faryal Tahir
Journal:  Cureus       Date:  2019-09-10

Review 5.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

Review 6.  New described dermatological disorders.

Authors:  Müzeyyen Gönül; Bengu Cevirgen Cemil; Havva Ozge Keseroglu; Havva Kaya Akis
Journal:  Biomed Res Int       Date:  2014-08-28       Impact factor: 3.411

  6 in total

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