Schöpf–Schulz–Passarge syndrome

Schöpf–Schulz–Passarge syndrome
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Synonyms
Pronounce	N/A
Specialty	Dermatology, Genetics
Symptoms	Eyelid cysts, Palmoplantar keratoderma, Hypodontia, Hypotrichosis
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Schöpf–Schulz–Passarge syndrome (SSPS) is a rare genetic disorder characterized by a combination of ectodermal dysplasia features, including eyelid cysts, palmoplantar keratoderma, hypodontia, and hypotrichosis. It is named after the German dermatologists who first described the condition.

Clinical Features

The hallmark features of Schöpf–Schulz–Passarge syndrome include:

• Eyelid cysts: Patients typically develop multiple apocrine hidrocystomas on the eyelids, which are benign cystic lesions.
• Palmoplantar keratoderma: Thickening of the skin on the palms and soles is common, often presenting in childhood.
• Hypodontia: A reduced number of teeth, particularly the absence of permanent teeth, is frequently observed.
• Hypotrichosis: Sparse hair growth, particularly on the scalp, is another characteristic feature.

Additional features may include nail dystrophy, syringofibroadenoma of the skin, and an increased risk of skin cancer.

Genetics

Schöpf–Schulz–Passarge syndrome is inherited in an autosomal recessive manner. It is associated with mutations in the WNT10A gene, which plays a crucial role in the development of ectodermal structures. Genetic testing can confirm the diagnosis by identifying mutations in this gene.

Diagnosis

Diagnosis of SSPS is primarily clinical, based on the characteristic features. Genetic testing can provide confirmation. A thorough family history and examination of the skin, teeth, and hair are essential components of the diagnostic process.

Management

There is no cure for Schöpf–Schulz–Passarge syndrome, and treatment is symptomatic. Management strategies may include:

• Surgical removal of eyelid cysts if they cause discomfort or vision problems.
• Use of emollients and keratolytics for palmoplantar keratoderma.
• Dental care to address hypodontia, including the use of dental prosthetics.
• Regular dermatological evaluations to monitor for skin cancer.

Prognosis

The prognosis for individuals with Schöpf–Schulz–Passarge syndrome varies. While the condition is lifelong, many symptoms can be managed effectively with appropriate care. Regular monitoring for complications, particularly skin cancer, is important.

Also see

• Ectodermal dysplasia
• Palmoplantar keratoderma
• Hypodontia
• Hypotrichosis