Research progress in Haim-Munk syndrome

Abstract

Haim-Munk syndrome is an extremely rare autosomal recessive genetic disease, characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, arachnodactyly, acro-osteolysis, pes planus foot and nail atrophic deformation. Studies have shown that the disease is often caused by parental consanguinity and is associated with homozygous mutations in the Cathepsin C (CTSC) gene. At present, there are few related articles, most of which are case reports. Few studies have been conducted on the etiology and pathogenesis thereof. Patients are often confronted with the problems of missed diagnosis, misdiagnosis and poor therapeutic efficacy. Based on the current research status at home and abroad, this paper reviews the pathogenesis, clinical manifestations, histopathology and immunohistochemistry, diagnosis and differential diagnosis, treatment and prognosis of HMS, in order to provide reference for the clinical diagnosis and the treatment.

Keywords

• haim-munk syndrome
• cathepsin c
• mutation
• pathogenesis
• treatment