Coexistence of Ichthyosis And Ankyloglossia Admitted to The Family Medicine Outpatient Clinic: A Rare Case Report

Coexistence of Ichthyosis And Ankyloglossia Admitted to The Family Medicine Outpatient Clinic: A Rare Case Report

ABSTRACT Family Medicine is a primary care service where undifferentiated patients apply and low prevalence medicine service is provided. Ichthyosis vulgaris is the most common type of ichthyosis, accounting for more than 95% of all ichthyosis cases. The prevalence of this inherited disease, which is caused by a mutation in the filagrin (FLG) gene, is between 1/250 and 1/100. Xerosis, keratosis plaris, palmar hyperlinerity are seen in the patients. Ankyloglossia, on the other hand, is a congenital anomaly that limits the normal movements of the tongue, and its incidence in society varies between 4% and 10.7%. In this case report, for the first time in the literature, the association of ankyloglossia was reported in a patient with ichthyosis. With this case, we tried to draw attention to the importance of undifferentiated case and low prevalence medicine in Family Medicine.

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  • Chinnadurai, S., Francis, D. O., Epstein, R. A., Morad, A., Kohanim, S., & McPheeters, M. (2015). Treatment of ankyloglossia for reasons other than breastfeeding: a systematic review. Pediatrics, 135(6), e1467-e1474.
  • Dorf, I. L. H., Lunen, M. S., & Koppelhus, U. (2021). Effect of topical treatment with 7.5% urea in Ichthyosis Vulgaris: A randomized, controlled, double blinded, split body study evaluating the effect of urea cream compared to the vehicle (moisturizing) cream. Skin Health Dis, 1(4), e65. doi: 10.1002/ski2.65
  • Fozia, F., Nazli, R., Alam Khan, S., Bari, A., Nasir, A., Ullah, R., Mahmood, H. M., Sohaib, M., Alobaid, A., & Ansari, S. A. (2021). Novel homozygous mutations in the genes TGM1, SULT2B1, SPINK5 and FLG in four families underlying congenital ichthyosis. Genes, 12(3), 373.
  • Göktaş O. (2022). The Göktaş definition of family medicine/general practice. Atencion primaria, 54(10), 102468. https://doi.org/10.1016/j.aprim.2022.102468
  • Irvine, A. D., McLean, W. I., & Leung, D. Y. (2011). Filaggrin mutations associated with skin and allergic diseases. New England Journal of Medicine, 365(14), 1315-1327.
  • Jaffar, H., Shakir, Z., Kumar, G., & Ali, I. F. (2023). Ichthyosis vulgaris: An updated review. Skin Health and Disease, 3(1), e187.
  • Karaduman, A. (2011). Inherited keratinization disorders. Turkderm-Turkish Archives Of Dermatology And VenerologY, 45.
  • Kotlow, L. (2011). Infant reflux and aerophagia associated with the maxillary lip-tie and ankyloglossia (tongue-tie). Clinical Lactation, 2(4), 25-29.
  • Nouwen, A. E. M., Schappin, R., Nguyen, N. T., Ragamin, A., Bygum, A., Bodemer, C., . . . Pasmans, S. (2022). Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review. Front Immunol, 13, 864449. doi: 10.3389/fimmu.2022.864449
  • Oji, V., Tadini, G., Akiyama, M., Bardon, C. B., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P., & Fischer, J. (2010). Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. Journal of the American Academy of Dermatology, 63(4), 607-641.
  • Oji, V., & Traupe, H. (2009). Ichthyosis: clinical manifestations and practical treatment options. American journal of clinical dermatology, 10, 351-364.
  • Ran Zhu, T., Bass, J., & Schmidt, S. (2017). Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris. Journal of Surgical Case Reports, 2017(9), rjx183.
  • Rowan-Legg, A., Society, C. P., & Committee, C. P. (2015). Ankyloglossia and breastfeeding. Paediatrics & child health, 20(4), 209-213.
  • Segal, L. M., Stephenson, R., Dawes, M., & Feldman, P. (2007). Prevalence, diagnosis, and treatment of ankyloglossia: methodologic review. Canadian Family Physician, 53(6), 1027-1033.
  • Siegel, S. A. (2016). Aerophagia induced reflux in breastfeeding infants with ankyloglossia and shortened maxillary labial frenula (tongue and lip tie). International Journal of Clinical Pediatrics, 5(1), 6-8.
  • Smith, F. J., Irvine, A. D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L. E., Zhao, Y., Liao, H., Evans, A. T., Goudie, D. R., & Lewis-Jones, S. (2006). Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature genetics, 38(3), 337-342.
  • Vahlquist, A., Fischer, J., & Törmä, H. (2017). Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.