Böök syndrome

Böök syndrome, also known as book syndrome or PHC syndrome, is a rare condition that affects the development of certain body tissues. It is classified as an ectodermal dysplasia and follows an autosomal dominant pattern, meaning it can be passed from one generation to the next. The condition was first reported in a Swedish family with 25 cases across four generations, along with one additional isolated case. People with this condition commonly experience the absence of premolar teeth, excessive sweating (hyperhidrosis), and premature graying of the hair. In the isolated case, additional features such as a narrow palate, underdeveloped nails, eyebrow anomalies, a single simian crease on one hand, and unusual skin markings were also observed.

Common signs of Böök syndrome include the absence of premolar teeth (premolar aplasia), excessive sweating (hyperhidrosis), and early graying of the hair. Some individuals may also show features like a narrow palate, underdeveloped nails, eyebrow changes, a single crease on one hand, or atypical skin patterns.

Böök syndrome is inherited in an autosomal dominant manner. This means that a change in one copy of a gene inherited from one parent is enough to cause the condition. However, the exact genetic details or specific gene mutations responsible for this syndrome have not been identified.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.