Aplasia Cutis Congenita
Aplasia Cutis Congenita (ACC) (Congenital Absence Of Skin)
Definition
Aplasia Cutis Congenita is a heterogeneous group of disorders characterized by the localized or widespread absence of skin at birth, with or without the absence of underlying structures.
Key Points
- Present at birth
- Variable clinical presentation
- Multiple inheritance patterns
- Can be isolated or syndromic
- May involve deeper structures
- Requires careful evaluation
Epidemiology
- Incidence: 1-3 per 10,000 live births
- No gender predilection
- All racial groups affected
- Sporadic or inherited cases
Frieden Classification
Group 1: Scalp ACC without Multiple Anomalies
- Characteristics:
- Solitary or multiple lesions
- Usually midline scalp
- Autosomal dominant or sporadic
- Most common form
Group 2: Scalp ACC with Limb Anomalies
- Features:
- Scalp defects with limb reduction
- Syndactyly or hypoplastic digits
- Autosomal dominant inheritance
- Adams-Oliver syndrome
Group 3: Scalp ACC with Epidermal/Organoid Nevi
- Characteristics:
- Associated with epidermal nevi
- Multiple skin defects
- Sporadic occurrence
- CNS involvement possible
Group 4: ACC Overlying Embryologic Malformations
- Features:
- Associated with neural tube defects
- Meningomyelocele
- Gastroschisis
- Other midline defects
Group 5: ACC with Fetus Papyraceus
- Characteristics:
- Associated with fetal demise
- Symmetrical distribution
- Stellate lesions
- Multiple pregnancy history
Group 6: ACC Associated with Epidermolysis Bullosa
- Features:
- Associated blistering
- Multiple inheritance patterns
- Various EB subtypes
- Extremity involvement common
Groups 7-9: ACC with Other Syndromes
- Characteristics:
- Associated with specific syndromes
- Multiple patterns of inheritance
- Variable presentation
- Different organ involvement
Clinical Features
Cutaneous Manifestations
- Morphology:
- Well-circumscribed defects
- Round or oval configuration
- Variable size (0.5-10cm)
- Single or multiple lesions
- Distribution:
- Scalp most common (70%)
- Trunk and extremities
- Symmetric or asymmetric
- Midline predominance
- Appearance:
- Erosion or ulceration
- Membrane-covered defects
- Scarred appearance
- Variable depth
Associated Features
- Skull Involvement:
- Cranial defects
- Dural exposure
- Vascular malformations
- Cranial stenosis
- Extracutaneous Features:
- Limb abnormalities
- Cardiac defects
- Neural tube defects
- Gastrointestinal anomalies
Diagnostic Approach
Clinical Assessment
- History:
- Pregnancy details
- Family history
- Associated symptoms
- Multiple pregnancy status
- Physical Examination:
- Lesion characteristics
- Associated anomalies
- Growth parameters
- Systemic examination
Investigations
- Imaging Studies:
- Skull radiographs
- CT/MRI of affected areas
- Brain imaging if indicated
- Echocardiogram
- Laboratory Studies:
- Genetic testing
- Chromosome analysis
- Specific gene panels
- Skin biopsy if needed
Treatment and Management
Conservative Management
- Wound Care:
- Regular cleaning
- Appropriate dressings
- Infection prevention
- Monitoring for healing
- Medical Management:
- Topical antibiotics
- Pain management
- Systemic antibiotics if needed
- Growth factor therapy
Surgical Management
- Timing of Surgery:
- Emergency vs. elective
- Age considerations
- Size of defect
- Associated anomalies
- Surgical Options:
- Primary closure
- Local flaps
- Tissue expansion
- Skin grafting
Genetics and Pathophysiology
Genetic Basis
- Known Genes:
- BMS1
- UBA2
- DOCK6
- EOGT
- Inheritance Patterns:
- Autosomal dominant
- Autosomal recessive
- X-linked
- Sporadic cases
Pathogenic Mechanisms
- Developmental Factors:
- Vascular disruption
- Mechanical forces
- Teratogenic effects
- Genetic mutations
Special Considerations
Pregnancy Management
- Prenatal Detection:
- Ultrasound screening
- Risk assessment
- Genetic counseling
- Delivery planning
Long-term Care
- Follow-up:
- Regular monitoring
- Growth assessment
- Developmental screening
- Psychosocial support
Complications and Prognosis
Potential Complications
- Early Complications:
- Infection
- Hemorrhage
- CSF leakage
- Meningitis
- Late Complications:
- Scarring
- Hair loss
- Psychological impact
- Functional limitations
Prognosis Factors
- Favorable Factors:
- Small defects
- Superficial involvement
- Isolated lesions
- Early treatment
- Poor Prognostic Factors:
- Large defects
- Deep involvement
- Associated anomalies
- Delayed treatment
Disclaimer
The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.
