A rare complication of an even rarer disease

Czech version

Authors: Paulína Činčilová ¹; Susanna Bodnárová ¹; Petra Gkalpakioti ²; Zdeněk Čada ³; Zuzana Balogová ³; Jana Lhotská ¹; Jan David ¹
Authors‘ workplace: Klinika dětí a dorostu, 3. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice Královské Vinohrady, Praha ¹; Dermatovenerologická klinika, 3. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice Královské Vinohrady, Praha ²; Klinika ušní, nosní a krční, 2. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice Motol a Homolka Praha ³
Published in: Čes-slov Pediat 2026; 81 (3): 158-162.
Category: Case Report
doi: https://doi.org/10.55095/CSPediatrie2026/029

Overview

Činčilová P, Bodnárová S, Gkalpakioti P, Čada Z, Balogová Z, Lhotská J, David J.A rare complication of an even rarer disease

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetically determined disorder characterized primarily by cutaneous and sensory abnormalities. However, affected patients also have a lifelong increased risk of infectious and neoplastic complications involving the skin and mucous membranes. In this case report, we present an eleven-year-old boy with KID syndrome who was hospitalized for suspected acute glossitis. Clinically, a large, palpably mass of the tongue with multiple erosive lesions was the dominant finding. The patient was treated with antibiotics; however, progressive enlargement of the lingual swelling raised suspicion of a malignant etiology. Magnetic resonance imaging revealed an extensive infiltrative lesion of the tongue with central liquefaction and bilateral cervical lymphadenopathy. Unfortunately, histopathological examination of the biopsy confirmed an unfavorable diagnosis. This case highlights not only the complexity of KID syndrome and the necessity of long-term follow-up, but also the importance of multidisciplinary management, particularly in patients with rare diseases.

Keywords:

deafness – keratitis – KID syndrome – ichthyosis – glossitis – tongue carcinoma

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