HELIX Syndrome

Clinical Characteristics
Ocular Features: 

Alacrimia has been confirmed with Schirmer test strips but the ocular examination has been described as otherwise normal.

Systemic Features: 

All patients have anhidrosis resulting in alacrima and xerostomia with heat intolerance.  Nails and hair are normal.  Muscle weakness, heart palpitations, and post-exertional cramping may be experienced with mild exercise beginning in the first decade.  Polydipsia and polydipsia may be additional complaints.  Severe dental enamel wear is often evident.  The skin has a fine, white scaliness.  Adolescent-onset nephrocalcinosis has been reported in some patients.

The majority of patients have elevated serum Mg++ levels.  Mild renal failure occurs with loss of NaCl and secondary hyperaldosteronism and hypokalemia.

Genetics

Homozygous mutations in the CLDN10 gene (13q32.1) are responsible for this disorder.  Consanguinity is present in some families.

Treatment
Treatment Options: 

Dental resins has been reported to be beneficial as a protective coating of the teeth.  Ocular evaluations for corneal damage from alacrima have not been reported but moisturizing preparations should be used as indicated. 

References
Article Title: 

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genet Med. 2017 Aug 3. doi: 10.1038/gim.2017.71. [Epub ahead of print].

PubMed ID: 
28771254

References

Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genet Med. 2017 Aug 3. doi: 10.1038/gim.2017.71. [Epub ahead of print].

PubMedID: 28771254

Klar J, Piontek J, Milatz S, Tariq M, Jameel M, Breiderhoff T, Schuster J, Fatima A, Asif M, Sher M, Mabert K, Fromm A, Baig SM, Gunzel D, Dahl N. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. PLoS Genet. 2017 Jul 7;13(7):e1006897. doi: 10.1371/journal.pgen.1006897. eCollection 2017 Jul.

PubMedID: 28686597