Zimmermann-Laband Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Zimmermann-Laband syndrome is a very rare congenital fibromatosis with the main features of gingival fibromatosis , coarse facial features and absent or hypoplastic nails ( nail hypoplasia ) or distal phalanges of the hands and feet. The syndrome is one of the hereditary gingival fibromatoses .

Synonyms are: Laband syndrome; Laband-Zimmermann Syndrome

The first description comes from 1928 by the German anatomist Karl Wilhelm Zimmermann (1861-1935).

PF Laband and colleagues from Trinidad described the disease in 1964.

The term was coined in 1971 by CJ Wiktop.

distribution

The frequency is given as less than 1 in 1,000,000, so far 44 patients have been described. The inheritance is autosomal dominant .

root cause

Depending on the underlying mutation , the following types can be distinguished:

  • Type 1 with mutations in KCNH1 - gene on chromosome 1 locus q32.2 based encoding the Potassium voltage-gated channel subfamily H member. 1
  • Type 2 with mutations in the ATP6V1B2 gene on chromosome 8 at p21.3.

Clinical manifestations

Clinical criteria are:

Hyperextensible joints, hepatosplenomegaly , scoliosis , hirsutism or hypertrichosis , hearing loss and mild mental retardation, as well as colpocephaly can also occur.

Differential diagnosis

Other forms of hereditary gingival fibromatosis must be distinguished .

therapy

The hyperplastic fibrous gums can be treated surgically .

literature

  • A. Mégarbané, R. Al-Ali, N. Choucair, M. Lek, E. Wang, M. Ladjimi, CM Rose, R. Hobeika, Y. Macary, R. Temanni, PV Jithesh, A. Chouchane, KS Sastry , R. Thomas, S. Tomei, W. Liu, FM Marincola, D. MacArthur, L. Chouchane: Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? In: BMC medical genetics. Volume 17, number 1, June 2016, p. 42, doi: 10.1186 / s12881-016-0304-4 , PMID 27282200 , PMC 4901505 (free full text)
  • F. Kortüm, V. Caputo, CK Bauer, L. Stella, A. Ciolfi, M. Alawi, G. Bocchinfuso, E. Flex, S. Paolacci, ML Dentici, P. Grammatico, GC Korenke, V. Leuzzi, D Mowat, LD Nair, TT Nguyen, P. Thierry, SM White, B. Dallapiccola, A. Pizzuti, PM Campeau, M. Tartaglia, K. Kutsche: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. In: Nature genetics. Volume 47, Number 6, June 2015, pp. 661-667, doi: 10.1038 / ng.3282 , PMID 25915598 .
  • R. Pfeiffer, E. Seemanova, J. Suss, D. Müßig, H. Tietze: The syndrome of Zimmermann-Laband. In: Clinical Pediatrics. Vol. 204, 1992, p. 1, doi: 10.1055 / s-2007-1025313 .
  • Benjamin Abo-Dalo, Molecular Genetic Analysis of Positional and Functional Candidate Genes in Patients with Zimmermann-Laband Syndrome , Dissertation University of Hamburg (2007).

Individual evidence

  1. ↑ 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 .
  2. ↑ a b c Zimmerman-Laband syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ Who named it
  4. ↑ KW Zimmermann: About anomalies of the ectoderm. In: Vierteljahresschrift Zahnheilkunde Vol. 44, pp. 419–434, 1928.
  5. ^ PF Laband, G. Habib, GS Humphreys: Hereditary gingival fibromatosis: report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities. In: Oral surgery, oral medicine, and oral pathology. Volume 17, March 1964, pp. 339-351, PMID 14130237 .
  6. ^ CJ Witkop: Heterogeneity in gingival fibromatosis. In: Birth defects original article series. Volume 7, Number 7, June 1971, pp. 210-221, PMID 4950923 (review).
  7. ^ Zimmermann-Laband syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ C. Simons, LD Rash, J. Crawford, L. Ma, B. Cristofori-Armstrong, D. Miller, K. Ru, GJ Baillie, Y. Alanay, A. Jacquinet, FG Debray, A. Verloes, J. Shen, G. Yesil, S. Guler, A. Yuksel, JG Cleary, SM Grimmond, J. McGaughran, GF King, MT Gabbett, RJ Taft: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy . In: Nature genetics. Volume 47, number 1, January 2015, pp. 73-77, doi: 10.1038 / ng.3153 , PMID 25420144 .
  9. ^ Zimmermann-Laband syndrome 2.  In: Online Mendelian Inheritance in Man . (English)

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