CTSC-related disorder

CTSC-related disorder is a group of conditions caused by changes in the CTSC gene. These disorders include papillon-Lefevre syndrome, which is known for causing thick skin on the palms and soles, severe gum disease, and early tooth loss. Another related condition is Haim-Munk syndrome, which, in addition to the features of papillon-Lefevre syndrome, can also involve long, slender fingers, bone changes near the fingertips, flat feet, and unusually thick or curved nails. A third condition associated with CTSC variations is aggressive periodontitis 1, characterized by prolonged and severe gum infections that lead to rapid tooth loss. All of these conditions are inherited in an autosomal recessive pattern, meaning that a person must inherit a copy of the changed gene from both parents to develop the disorder.

People with this condition often experience thickening of the skin on the palms and soles, severe gum disease, and early loss of both baby and permanent teeth. In some cases, particularly in Haim-Munk syndrome, there can be additional signs such as long, slender fingers, bone loss in the fingertips (acroosteolysis), flat feet, and changes in nail shape.

CTSC-related disorder is caused by variations in the CTSC gene. These changes in the gene affect its normal function. The disorder follows an autosomal recessive pattern, meaning that a person must inherit one changed gene from each parent to be affected.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.