Zimmermann–Laband syndrome

Zimmermann–Laband syndrome (ZLS),<ref>Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary</ref> is an extremely rare<ref>Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases </ref> autosomal dominant<ref>Holzhausen, M,

 A case of Zimmermann–Laband syndrome with supernumerary teeth, 
 Journal of Periodontology, 
 
 Vol. 74(Issue: 8),
 pp. 1225–30,
 DOI: 10.1902/jop.2003.74.8.1225,
 PMID: 14514238,</ref> congenital disorder.

Symptoms

Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.<ref>,

 Zimmermann–Laband syndrome in an infant with an atypical histologic finding, 
 Pediatr. Dev. Pathol., 
 2005,
 Vol. 8(Issue: 6),
 pp. 654–7,
 DOI: 10.1007/s10024-005-0048-1,
 PMID: 16267629,</ref> The nose and pinnae are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. Mental retardation may also occur.<ref>Cat.Inist</ref><ref name=WhoName>synd/3783 at Who Named It?</ref> Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.<ref name=PeaceHealth /><ref name=WhoName /> The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.<ref name=WhoName />

Epidemiology

Forty-four patients have been reported to date.

Cause

The genetic basis is unknown. Mapping of breakpoints of two translocations t(3;8) and t(3;17) found in two patients with the typical clinical features of Zimmermann-Laband syndrome defined a common breakpoint region located in 3p14.3 but the lack of a specific coding-sequence lesion in the common region suggests that either some other type of genetic defect in this vicinity, or an alteration elsewhere in the genome, could be responsible for ZLS.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

The condition is caused by mutations in a potassium channel gene – KCNH1.<ref name="Mégarbané2016">Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L1 (2016) Temple-Baraitser Syndrome and Zimmermann–Laband Syndrome: one clinical entity? BMC Med Genet. 17(1):42. doi: 10.1186/s12881-016-0304-4</ref>

Diagnosis

Differential diagnosis The differential diagnosis includes other defined syndromes of hirsutism and coarsening of the face. Isolated gingival fibromatosis has been documented as a dominantly transmissible trait.

Treatment

Management and treatment Treatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth.

Prognosis

Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.

See also

• List of cutaneous conditions