Limb Mammary Syndrome

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Classification according to ICD-10
Q82.4 Ectodermal dysplasia (anhidrotic)
ICD-10 online (WHO version 2019)

The Limb-mammary syndrome ( LMS ; members mammary syndrome ) is a very rare, to the ectodermal dysplasia associated congenital disease with the main features of severe malformations of hands and feet together with hypo- or aplasia of the mammary gland and nipple .

The first description comes from 1999 by the Dutch human geneticist Hans Van Bokhoven .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations in the TP63 gene with loss of function in exon 13 and exon 14 at location 3q27, which codes for the tumor protein 63, a transcription factor.

Mutations in the TP63 gene are also found in other syndromes of EEC syndrome , Hay-Wells syndrome and ADULT syndrome .

Clinical manifestations

The extent of the changes can be very variable. Clinical criteria are:

  • Onset in newborns or toddlers
  • Absence of the nipple (isolated as a minimal variant)
  • Limb defects (missing, duplicates, fusions and others with more pronounced forms)
  • Skin and hair are normal

In addition, there may be atresia of the lacrimal duct , nail dysplasia, hypohidrosis , hypodontia or cleft palate .

Differential diagnosis

The ADULT syndrome and the ulna-mamma syndrome are to be distinguished .

literature

  • L. Guazzarotti, C. Caprio, TK Rinne, M. Bosoni, G. Pattarino, S. Mauri, GL Tadini, H. van Bokhoven, GV Zuccotti: Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype / phenotype correlation? In: American journal of medical genetics. Part A. Vol. 146A, No. 15, August 2008, pp. 2001-2004, doi: 10.1002 / ajmg.a.32371 , PMID 18627043 .
  • H. van Bokhoven, BC Hamel, M. Bamshad, E. Sangiorgi, F. Gurrieri, PH Duijf, KR Vanmolkot, E. van Beusekom, SE van Beersum, J. Celli, GF Merkx, R. Tenconi, JP Fryns, A Verloes, RA Newbury-Ecob, A. Raas-Rotschild, F. Majewski, FA Beemer, A. Janecke, D. Chitayat, G. Crisponi, H. Kayserili, JR Yates, G. Neri, HG Brunner: p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. In: American Journal of Human Genetics . Vol. 69, No. 3, September 2001, pp. 481-492, doi: 10.1086 / 323123 , PMID 11462173 , PMC 1235479 (free full text).
  • P. Propping, W. Friedl, TF Wienker, S. Uhlhaas, K. Zerres: ADULT syndrome allelic to limb mammary syndrome (LMS)? In: American journal of medical genetics. Vol. 90, No. 2, January 2000, pp. 179-182, PMID 10607963 .

Individual evidence

  1. ↑ a b c d e Mammary Syndrome. In: Orphanet (Rare Disease Database).
  2. ^ H. van Bokhoven, M. Jung, AP Smits, S. van Beersum, F. Rüschendorf, M. van Steensel, M. Veenstra, JH Tuerlings, EC Mariman, HG Brunner, TF Wienker, A. Reis, HH Ropers, BC Hamel: Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand / Foot anomalies maps to human chromosome 3q27. In: American Journal of Human Genetics . Vol. 64, No. 2, February 1999, pp. 538-546, doi: 10.1086 / 302246 , PMID 9973291 , PMC 1377763 (free full text).
  3. ↑ Limb-mammary syndrome.  In: Online Mendelian Inheritance in Man . (English)

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