Schöpf-Schulz-Passarge syndrome

Schöpf-Schulz-Passarge syndrome is a rare autosomal recessive ectodermal dysplasia. This condition is characterized by a unique combination of features such as multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis (reduced hair), hypodontia (missing teeth), and nail dystrophy. People with this condition have noticeable changes affecting the skin, hair, teeth, and nails. These features help clinicians suspect the diagnosis and guide further evaluation.

Common signs of this condition include multiple cyst-like lesions on the eyelids (apocrine hidrocystomas), thickening of the skin on the palms and soles (palmoplantar keratoderma), sparse hair (hypotrichosis), missing teeth (hypodontia), and abnormal nail development (nail dystrophy).

Schöpf-Schulz-Passarge syndrome is caused by changes in the WNT10A gene. It is inherited in an autosomal recessive pattern, which means that a person needs to inherit two copies of the altered gene to have the condition.

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.