Hijalini fibromatozni sindrom (HFS) rijedak je autosomno recesivni genetski poremećaj koji karakterizira nakupljanje hijaline tvari u tkivima s kožnim, sluzničkim, koštanim, zglobnim i sistemskim manifestacijama. Bolest je uzrokovana mutacijom gena ANTXR2 koja rezultira sintezom neispravnog transmembranskog proteina, pa se hijalini depoziti prekomjerno talože u međustaničnom prostoru. Prvi znakovi mogu biti prisutni pri rođenju ili tijekom dojenačke dobi, a prvi simptom najčešće
je ukočenost zgloba. Ostale manifestacije uključuju zglobne kontrakture, hiperpigmentirane makule kože iznad koštanih prominecija zglobova i hipertrofiju gingive, što je uz potkožne nodule (kvržice), vrlo često simptom koji potiče sumnju na HFS. Napredovanje bolesti uključuje enteropatiju s velikim gubitkom proteina, kroničnu dijareju i česte infekcije. U radu predstavljamo petogodišnju djevojčicu s teškim oblikom gingivne hipertrofije koja je uzrokovala poteškoće s hranjenjem i govorom. Prema našim spoznajama to je prvi pacijent opisan u Hrvatskoj s dokazanom mutacijom gena ANTXR2.Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of a transmembrane protein which leads up to excessive deposition of hyaline material in extracellular space. The first signs may be present at birth or appear during infancy, and joint stiffness is the first, most common, symptom. Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. The symptom that raises suspicion of HFS is present later, along with subcutaneous growths. The progression of the disease includes enteropathy with extensive protein loss, chronic diarrhea and frequent infections. We present a case of a five-year-old girl with severe gingival hypertrophy that caused difficulties in eating and speaking.
To the best of our knowledge, this is also the first patient in Croatia with a confirmed ANTXR2 gene
mutation described in the literature
