Random Dermatology MCQ - Schopf Schulz Passarge Syndrome

A 55-year-old man presents with multiple, small, cystic nodules along the eyelid margins (apocrine hidrocystomas), sparse scalp hair, and nail dystrophy. He has a history of multiple missing teeth since early adulthood and reports that his father had similar features. He is most concerned about a new, persistent erosion on his lower lip. Which of the following is the most likely diagnosis and the most serious associated risk?

A. Pachyonychia Congenita; risk of natal teeth and laryngeal lesions.
B. Schopf-Schulz-Passarge syndrome; risk of developing eccrine syringofibroadenomas and an increased risk of periungual and oral squamous cell carcinoma.
C. Bazex-Dupré-Christol syndrome; risk of basal cell carcinomas in sun-exposed areas.
D. Focal Dermal Hypoplasia (Goltz syndrome); risk of ocular and skeletal abnormalities.
E. Hypohidrotic Ectodermal Dysplasia; risk of hyperthermia and respiratory infections.

Correct Answer: B. Schopf-Schulz-Passarge syndrome; risk of developing eccrine syringofibroadenomas and an increased risk of periungual and oral squamous cell carcinoma.

Answer and Explanation

The correct answer is B. This question describes the classic tetrad of Schopf-Schulz-Passarge syndrome (SSPS): 1) Multiple apocrine hidrocystomas of the eyelids, 2) Hypotrichosis (sparse hair), 3) Hypodontia/Oligodontia (missing teeth), and 4) Nail dystrophy. The mode of inheritance is autosomal dominant. The new erosion on the lip is a highly concerning feature, as patients with SSPS have a significantly increased risk of developing squamous cell carcinoma (SCC), particularly in the periungual and oral regions. They also frequently develop benign eccrine tumors called eccrine syringofibroadenomas.

Why the Other Options are Incorrect:

• A. Pachyonychia Congenita: This features severe, painful palmoplantar keratoderma and grossly thickened nails (pachyonychia), often with oral leukokeratosis. Eyelid hidrocystomas and hypodontia are not hallmarks.

• C. Bazex-Dupré-Christol syndrome: This X-linked disorder features follicular atrophoderma (ice-pick scars), hypotrichosis, hypohidrosis, and a high risk of early-onset basal cell carcinomas, not SCC. It does not include the eyelid cysts or dental anomalies of SSPS.

• D. Focal Dermal Hypoplasia (Goltz syndrome): An X-linked dominant disorder characterized by linear streaks of dermal hypoplasia, fat herniation, and limb abnormalities. It does not present with the specific tetrad of SSPS.

• E. Hypohidrotic Ectodermal Dysplasia: The most common ectodermal dysplasia, featuring hypohidrosis (inability to sweat), hypotrichosis, and hypodontia. It is associated with heat intolerance and respiratory issues but does not include eyelid hidrocystomas or a specific increased risk of SCC.

Additional High-Yield Information for Exams:

• Clinical Features: The apocrine hidrocystomas are often the most prominent and earliest sign. Nail dystrophy can range from longitudinal ridging to koilonychia. Hypodontia is typically severe, leading to early loss of permanent teeth.

• Genetics: Caused by mutations in the WNT10A gene, which is also implicated in other tooth agenesis syndromes. Inheritance is autosomal dominant.

• Differential Diagnosis: SSPS is often misdiagnosed due to its rarity. The combination of eyelid cysts + dental anomalies should be a strong clue. The main differentials are other ectodermal dysplasias, as listed.

• Associated Conditions & Prognosis:

  • Benign Tumors: Development of multiple eccrine syringofibroadenomas (benign proliferations of eccrine ducts) on the palms and soles is very common and can be disabling.

  • Malignant Risk: The most serious concern is the predisposition to squamous cell carcinoma. These SCCs can be aggressive and occur in unusual locations (periungual, oral mucosa, palms/soles). The lip erosion in the question is a major red flag.

  • Prognosis: Lifespan can be normal, but morbidity from dental issues, painful palmoplantar lesions, and the risk of SCC requires vigilant management.

• Management & Rationale:

  • Rationale: The goal is multidisciplinary management of the ectodermal defects and vigilant cancer surveillance.

  • First-line/Obligatory Surveillance: Regular, thorough skin and oral examinations with a low threshold for biopsy of any new, changing, or persistent lesions, especially on the lips, mouth, periungual skin, palms, and soles.

  • Specialist Care:

    • Dermatology: For management of hidrocystomas (may be excised or drained), syringofibroadenomas, and SCC surveillance/treatment.

    • Dentistry/Prosthodontics: Essential for dental rehabilitation with implants or dentures.

    • Ophthalmology: For management of symptomatic eyelid cysts.

  • Genetic Counseling: Offered due to the autosomal dominant inheritance.