Random Dermatology MCQ - Adams Oliver syndrome

A newborn is noted to have a large, full-thickness, stellate-shaped defect on the vertex of the scalp (aplasia cutis congenita). The infant also has hypoplastic fingers and toes, with absence of the distal phalanges on several digits. The pregnancy was notable for a deceased twin fetus papyraceus. What is the most likely diagnosis and the most critical associated systemic risk?

A. Adams-Oliver syndrome; associated with an increased risk of congenital heart defects and vascular anomalies, including portal hypertension.
B. Focal Dermal Hypoplasia (Goltz syndrome); associated with ocular colobomas and limb anomalies.
C. Epidermolysis Bullosa; associated with mucosal blistering and scarring.
D. Aplasia Cutis Congenita Type I; an isolated defect with no systemic associations.
E. Cutis Marmorata Telangiectatica Congenita; associated with asymmetric limb growth and glaucoma.

Correct Answer: A. Adams-Oliver syndrome; associated with an increased risk of congenital heart defects and vascular anomalies, including portal hypertension.

Answer and Explanation

The correct answer is A. This question describes the classic presentation of Adams-Oliver syndrome (AOS). The diagnostic clues are the combination of 1) Aplasia cutis congenita (ACC) of the scalp (often midline, stellate, and large), 2) Terminal transverse limb defects (ranging from hypoplastic nails to brachydactyly to complete absence of distal digits), and 3) The history of fetus papyraceus, a known association due to vascular disruption in utero. AOS is a vascular disruption sequence, and beyond the classic findings, patients have a significant risk of congenital heart defects and other vascular anomalies (e.g., cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension).

Why the Other Options are Incorrect:

• B. Focal Dermal Hypoplasia (Goltz syndrome): This presents with linear streaks of dermal hypoplasia, fat herniation, and limb anomalies, not a large, full-thickness scalp defect. It is an X-linked disorder, not associated with fetus papyraceus.

• C. Epidermolysis Bullosa: This presents with blistering and erosions due to skin fragility, not a single, congenital, full-thickness scalp defect. Limb anomalies are contractures, not transverse reduction defects.

• D. Aplasia Cutis Congenita Type I: While this describes an isolated scalp defect, the presence of the limb abnormalities immediately rules out an isolated form and points to a syndrome (AOS).

• E. Cutis Marmorata Telangiectatica Congenita (CMTC): This is a vascular anomaly presenting with a persistent, reticulated, purple cutaneous pattern. While CMTC can be associated with AOS and can cause limb asymmetry, it does not itself cause aplasia cutis or terminal transverse limb defects.

Additional High-Yield Information for Exams:

• Genetics: Genetically heterogeneous. Can be autosomal dominant (mutations in ARHGAP31, RBPJ, DOCK6, EOGT, NOTCH1) or autosomal recessive (DOCK6, EOGT). The pathogenesis involves defects in vascular development and Notch signaling.

• Clinical Features:

  • Scalp ACC: Often the most striking feature; can be membranous or ulcerated at birth, healing to a scar with alopecia.

  • Limb Defects: Terminal transverse limb defects are the hallmark. This includes short/distal fingers and toes (brachydactyly), syndactyly, and oligodactyly.

  • Cutaneous Vascular Anomalies: Cutis marmorata telangiectatica congenita (CMTC) is very commonly associated.

• Associated Conditions & Prognosis:

  • Cardiovascular: High incidence of congenital heart defects (e.g., ventricular septal defect, coarctation of the aorta, pulmonary vein stenosis).

  • Neurovascular: Risk of intracranial vascular anomalies and structural brain malformations (e.g., polymicrogyria).

  • Vascular/Visceral: Risk of portal hypertension, pulmonary hypertension, and other vascular complications.

  • Prognosis: Highly variable. Depends on the severity of the limb defects and, most critically, the presence and severity of cardiac and vascular complications, which are the major causes of morbidity and mortality.

• Differential Diagnosis: The combination of ACC and limb defects is highly specific for AOS. Other syndromes with ACC (e.g., Johanson-Blizzard, Trisomy 13) have distinct additional features.

• Management & Rationale:

  • Rationale: Multidisciplinary management from birth to address the structural defects and screen for life-threatening vascular and cardiac anomalies.

  • First-line/Obligatory Investigations:

    • Cardiac Evaluation: Echocardiogram is mandatory.

    • Neurologic/Vascular Imaging: Cranial ultrasound and/or MRI/MRA to evaluate for brain and intracranial vascular anomalies.

    • Limb Radiographs: To define the skeletal defects.

  • Specialist Care:

    • Dermatology/Plastic Surgery: For management of the scalp defect (conservative vs. surgical).

    • Orthopedics/Hand Surgery: For functional assessment and management of limb anomalies.

    • Cardiology: For management of any identified heart defect.

  • Long-term Monitoring: Lifelong surveillance for complications of portal or pulmonary hypertension is essential.