Autosomal Recessive Aplasia Cutis

Autosomal recessive aplasia cutis is a birth condition where a baby is born with one or more small areas of skin missing. “Autosomal recessive” means a baby inherits two non-working copies of a gene (one from each parent), or the trait appears in families where parents are healthy carriers. The missing skin most often occurs on the scalp but can appear on the body or limbs. The open area may look like a thin shiny membrane, a shallow ulcer, or a scar. Sometimes the skin loss goes deeper and includes the bone under the scalp. In many babies it is the only problem; in others, it happens together with features of a genetic syndrome (for example, limb differences or nail changes). Doctors diagnose it mainly by looking at the lesion and the baby’s overall health, and then order tests to check depth, safety, and possible causes. PMC+3NCBI+3NCBI+3

Aplasia cutis congenita (ACC) means a baby is born with a patch of missing skin. It most often affects the scalp, but it can occur anywhere. In most families ACC happens by chance or follows an autosomal-dominant pattern; however, rarely it follows an autosomal-recessive pattern (both parents carry one non-working copy, and the child inherits both). AR-ACC is often part of a syndrome, such as Adams–Oliver syndrome (AOS) or epidermolysis bullosa with congenital absence of skin (Bart syndrome). In all forms, careful wound care is the core of management, and large scalp defects can threaten bleeding or infection. DermNet®+2NCBI+2

During early development, a small area of skin does not fully form. Several models exist (for example, tension or vascular disruption during fetal life). Genetics can contribute. Mutations in DOCK6 or EOGT can cause AOS in an autosomal recessive way; other AOS genes include ARHGAP31, DLL4, NOTCH1, RBPJ. Bart syndrome links aplasia cutis with epidermolysis bullosa, often involving COL7A1 variants. Because multiple genes and pathways (like Notch signaling) are involved, AR-ACC is genetically heterogeneous. PubMed+7MedlinePlus+7MedlinePlus+7

In AR inheritance, each pregnancy has a 25% (1 in 4) chance to have an affected child, a 50% chance to have a carrier, and a 25% chance to have an unaffected, non-carrier child. Genetic counseling and, when appropriate, molecular testing help clarify risks and offer options for future pregnancies. MedlinePlus

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Another names

• Aplasia cutis congenita (ACC): the general medical name for “missing skin at birth.” PubMed

• Congenital absence of skin / congenital scalp defect: plain-language descriptions of ACC, most commonly on the scalp. NCBI

• Membranous ACC (MACC): a soft, thin-membrane type of scalp lesion; often round/oval and midline. Cell

• Bart syndrome (ACC with epidermolysis bullosa): a form where ACC occurs with skin fragility/blistering disorders. PMC

• Adams–Oliver syndrome (AOS): a syndrome in which ACC occurs with limb defects; AOS can be autosomal recessive in some families (e.g., DOCK6 or EOGT variants). PubMed+2ScienceDirect+2

Note: Some names above describe broader categories or specific syndromes that include ACC; your clinician will specify exactly which one applies.

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Types

Doctors often use the Frieden clinical classification, which sorts ACC by where it appears and what else it is associated with. Key practical “types” you may hear include:

• Isolated scalp ACC (often midline): a single lesion with no other anomalies. PubMed

• ACC with limb defects (Adams–Oliver pattern): scalp lesion plus hand/foot reduction changes; can be autosomal recessive in some families. PubMed

• ACC with epidermolysis bullosa (Bart pattern): ACC occurs with a blistering skin condition. PMC

• Membranous ACC: the lesion has a translucent, sac-like covering. Cell

• Non-genetic groupings: lesions linked to teratogens (certain medicines/chemicals), infections, vascular events, or amniotic band injury. PubMed

The 25-year review of cases supports keeping Frieden’s system but updates some group definitions (e.g., splitting teratogenic vs infectious causes). PubMed

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Causes

1) Autosomal-recessive single-gene changes (general concept).
In some families, ACC runs in an autosomal-recessive pattern: both parents carry one silent gene change; the baby who inherits both altered copies shows ACC. This inheritance pattern is reported even though most ACC overall is sporadic or autosomal dominant. NCBI

2) Adams–Oliver syndrome with recessive genes (e.g., DOCK6).
AOS combines scalp ACC with limb anomalies; several families show autosomal-recessive inheritance due to DOCK6 variants. PubMed

3) Adams–Oliver syndrome with recessive EOGT variants.
AOS can also result from recessive changes in EOGT (O-GlcNAc transferase), again producing ACC with limb findings. ScienceDirect

4) Bart syndrome (ACC with epidermolysis bullosa).
Here the skin is fragile and blisters; ACC appears with EB. Some EB genes can segregate as recessive traits. PMC

5) Setleis syndrome / focal facial dermal dysplasia (FFDD).
An autosomal-recessive condition (often TWIST2-related) causing temple skin defects that resemble ACC. PMC

6) General genetic pathway problems in skin formation.
Research shows multiple genes that control early skin and vessel development can lead to ACC when disrupted; some families fit recessive inheritance. ScienceDirect

7) Teratogenic medicines (e.g., methimazole/carbimazole).
Certain anti-thyroid drugs taken in pregnancy are linked to ACC in the baby; this is an environmental cause, not inheritance, but can mimic familial patterns in some communities. Medscape+1

8) Other teratogens (e.g., misoprostol, valproate, cocaine).
These exposures have been reported with ACC in case series and reviews. DermNet®

9) In-utero infections (e.g., varicella or herpes simplex).
Maternal infections can injure developing skin, producing ACC lesions. Medscape

10) Vascular disruption to the placenta or fetus.
A blood-flow problem (e.g., placental infarct or clot) can prevent normal skin formation in a small area. NCBI

11) Amniotic band sequence.
Rupture of fetal membranes can create strands that press on skin and cause localized absence. DermNet®

12) Twin-twin events / fetus papyraceus.
Death of a co-twin early in pregnancy can disturb blood flow, leading to ACC in the surviving twin. DermNet®

13) Chromosomal conditions (e.g., trisomy 13).
ACC may appear with certain aneuploidies; scalp lesions with deeper bone defects are reported. Frontiers

14) Physical trauma in the uterus.
Direct pressure or injury before birth can damage developing skin. NCBI

15) Maternal illness and metabolic states.
Some reports link uncontrolled maternal disease (e.g., severe thyroid disease before treatment) with ACC risk, often intertwined with medication exposure. Oxford Academic

16) Mosaic developmental errors.
Sometimes ACC is due to a random, non-inherited event in a small area of skin cells during development. PubMed

17) Collagen/anchoring-fibril gene defects.
Genes such as COL7A1 (also causing dystrophic EB) may be involved when ACC occurs with EB features. BioMed Central

18) Abnormal tension/biomechanics in fetal skin.
A proposed model suggests mechanical tension disrupts closure of developing skin at the scalp vertex. NCBI

19) Drug combinations and timing effects.
Risk relates not only to the drug but to dose and gestational timing; early exposures are more harmful to the forming skin. Medscape

20) Unknown / multifactorial causes.
In many babies, no single cause is found. A mix of subtle genetic risk and small prenatal events likely explains these cases. PubMed

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Symptoms and signs

1) A small round or oval scalp defect at birth.
It may be shiny, thin, or scar-like; hair is often absent in the center. Depth varies from superficial to deep. NCBI

2) Membranous covering over the lesion.
Some lesions have a thin “membrane” surface that looks like stretched film; this is typical of membranous ACC. Cell

3) Crust or ulcer on the scalp.
Fresh lesions can weep or crust and then heal over weeks to months, leaving a hairless scar. PMC

4) Visible pulsation or soft spot larger than usual.
If bone is thin or missing beneath the lesion, the area may feel soft or show pulsation with the heartbeat. PMC

5) Bleeding risk in large or deep defects.
Rarely, the sagittal sinus or dura is exposed; this needs urgent specialist care. PMC

6) Limb differences (in AOS).
Fingers or toes may be short, fused, or partially absent when ACC is part of Adams–Oliver syndrome. MedlinePlus

7) Nail changes or small nails.
Nail defects often accompany limb differences in syndromic cases. MedlinePlus

8) Skin fragility or blisters (Bart pattern).
If EB is present, the skin blisters easily around the lesion and elsewhere. PMC

9) Facial “temple” scars (Setleis/FFDD).
Bitemporal scar-like depressions or absent eyelashes can mimic ACC on the temples. PMC

10) Signs of in-utero infection.
Scars, eye problems, or growth issues sometimes point to prenatal viral infection as a cause. Medscape

11) Hair collar sign.
Hair grows more thickly in a ring around the lesion; this can hint at deeper defects under the skin. AAP Publications

12) Multiple small lesions on trunk or limbs.
Less common, but can occur, especially in non-scalp ACC subtypes. PubMed

13) Associated heart findings (AOS).
Some babies with AOS have heart anomalies; clinicians screen for these even if the skin lesion is small. Cell

14) Neurologic concerns when bone/dura are involved.
Very deep defects can raise risk of infection or seizures; careful monitoring is needed. PMC

15) Normal growth and development in many isolated cases.
Most babies with a small, isolated scalp ACC do well and the area heals with a stable scar. AAP Publications

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Diagnostic tests

Doctors start with a careful physical exam and history (including pregnancy medications and infections). Next, they choose tests to (1) gauge depth and safety, (2) look for syndromic features, and (3) search for a cause when needed.

Physical examination

1) Full newborn skin and scalp exam.
The clinician measures the lesion, notes location (often scalp vertex), surface (membranous vs ulcer), and checks for the hair-collar sign, which can warn of deeper involvement. AAP Publications

2) Palpation for skull integrity.
Gently feeling the edges helps identify bony gaps or soft areas suggesting missing bone. PMC

3) Limb and nail exam.
Hands, feet, and nails are checked for reductions or fusions that suggest Adams–Oliver syndrome. MedlinePlus

4) Whole-body dysmorphology screen.
Facial features (e.g., bitemporal depressions), eyelashes, and other minor anomalies can point to Setleis/FFDD or other syndromes. PMC

5) Vitals and bleeding assessment.
Large lesions are examined for bleeding, infection, or exposed vessels that need urgent care. PMC

Manual / bedside assessments

6) Serial size tracing of the lesion.
Outlining the lesion on transparent film or photos helps track healing over weeks. PMC

7) Gentle range-of-motion and grasp testing of hands/feet.
Quick checks at the bedside screen for functional effects of limb anomalies in AOS. MedlinePlus

8) Head circumference and fontanel checks.
Ongoing measurement picks up abnormal skull growth or very large soft spots linked to deeper defects. PMC

Laboratory and pathological tests

9) Maternal infection panel (targeted TORCH/viral testing).
If history suggests rash or fever in pregnancy, clinicians may review prenatal records or test for viruses like VZV/HSV that are linked to ACC. Medscape

10) Maternal/cord drug history confirmation.
Medication reconciliation (especially antithyroid drugs such as methimazole/carbimazole) helps document teratogen exposure. Medscape

11) Genetic testing panel for ACC/AOS/EB genes.
Panels may include DOCK6, EOGT (AOS), and EB genes (e.g., COL7A1) to define a recessive cause when suspected. PubMed+2ScienceDirect+2

12) Chromosomal microarray / karyotype (when indicated).
If multiple anomalies are present, testing can detect aneuploidies (e.g., trisomy 13). Frontiers

13) Pathology of the lesion (rarely needed).
If excised, histology confirms absence of skin layers and rules out other diagnoses. PMC

14) Basic labs if surgery is planned.
Complete blood count and coagulation tests help plan safe procedures for larger defects. (General perioperative practice.)

Electrodiagnostic tests

15) Electrocardiogram (ECG).
Some syndromic cases (e.g., AOS) can have cardiac defects; ECG is a quick screen before imaging. Cell

16) Auditory brainstem response (ABR) in EB-associated cases (as indicated).
When skin fragility syndromes or craniofacial anomalies coexist, ABR can screen for hearing issues that affect development. (Standard neonatal screening practice; used selectively.)

17) Electroencephalogram (EEG) if seizures suspected.
Large skull defects or brain malformations raise seizure risk; EEG helps evaluate events. PMC

Imaging tests

18) Cranial ultrasound (bedside).
For newborns, ultrasound checks whether bone is intact and screens for underlying brain or vascular exposure beneath scalp lesions. PMC

19) CT or MRI of the skull (if deeper defect is suspected).
Cross-sectional imaging maps bone and dura when the lesion is large, midline, or pulsatile—crucial before surgery. PMC

20) Echocardiogram (for AOS or syndromic clues).
If limb defects or AOS features are present, an echo looks for structural heart disease. Cell

Non-pharmacological treatments (therapies & others)

Simple aims: protect the area, prevent infection, promote gentle healing, reduce bleeding and pain, and plan surgery only when needed.

1. Moist wound healing with non-adherent dressings
   Keeping the defect moist (not wet) helps skin cells migrate and close the wound. Use non-stick silicone or petroleum-impregnated gauze, changed per the team’s schedule. This reduces pain at changes and lowers scab formation that can tear new skin. Purpose: faster, gentler epithelialization. Mechanism: maintains optimal moisture and temperature, allowing keratinocyte migration. DermNet®+1

2. Hydrogel or hydrocolloid dressings (case-based use)
   Hydrogels can provide moist balance and gentle autolytic debridement; hydrocolloids can protect shear-sensitive areas. Purpose: hands-off protection; Mechanism: polymers hold water and maintain a semi-occlusive barrier. (Use only under specialist guidance in neonates.) BioMed Central

3. Silicone foam dressings
   Soft silicone foams cushion the site, wick light exudate, and minimize trauma at removal. Purpose: protect and comfort; Mechanism: atraumatic adhesion and micro-cushioning. BioMed Central

4. Gentle cleansing
   Clean with sterile saline or as advised; avoid harsh scrubbing and alcohol/iodine unless directed. Purpose: lower bioburden without chemical injury; Mechanism: isotonic irrigation removes debris while preserving cells. DermNet®

5. Careful infection surveillance
   Daily checks for redness, warmth, swelling, odor, or discharge; monitor temperature and feeding. Purpose: catch infection early; Mechanism: early recognition → prompt antibiotics when indicated. DermNet®

6. Pain control strategies (non-drug adjuncts)
   Skin-to-skin contact, breastfeeding during dressing changes (if feasible), swaddling, and sucrose under medical direction. Purpose: reduce stress and pain; Mechanism: soothing stimuli modulate neonatal pain pathways. DermNet®

7. Avoid pressure and friction
   Positioning to keep the lesion off firm surfaces; use soft rings/foam “donuts” if recommended. Purpose: prevent bleeding and enlarge-ment; Mechanism: reduces mechanical trauma over fragile tissue. PMC

8. Sun and UV protection
   Keep the area covered; avoid direct sun on healing skin. Purpose: prevent burns and pigmentation changes; Mechanism: lowers UV-related inflammation in immature epidermis. DermNet®

9. Parental handling education
   Teach gentle touch, safe dressing changes, and signs to report. Purpose: safer home care; Mechanism: reduces accidental shear and late presentations of infection. DermNet®

10. Nutritional support (breastfeeding preferred)
    Adequate calories, protein, and micronutrients support healing; breastfeeding provides immune factors. Purpose: improve wound repair and infection resistance; Mechanism: supplies substrates (amino acids, zinc) and antibodies. DermNet®

11. Multidisciplinary care
    Neonatology, dermatology, plastic surgery, and genetics coordinate to decide conservative vs. surgical paths. Purpose: tailored plan; Mechanism: combined expertise reduces complications and optimizes timing. AACN Journals

12. Genetic counseling & testing
    Clarifies whether ACC is part of AOS, EB (Bart), or other forms; informs recurrence risk. Purpose: family planning and prognosis; Mechanism: molecular confirmation of causal variants (e.g., DOCK6, EOGT, COL7A1). MedlinePlus+2PMC+2

13. Protective head gear (later infancy, case-by-case)
    When the lesion is on the scalp, soft protective caps may reduce trauma as the child becomes active. Purpose: safety; Mechanism: mechanical barrier against bumps/scratches. PMC

14. Negative-pressure wound therapy (rare, specialist use)
    Occasionally used for larger defects under strict supervision. Purpose: promote granulation and fluid control; Mechanism: sub-atmospheric pressure supports perfusion. (Evidence mainly case reports.) AACN Journals

15. Moisture-barrier ointments (as directed)
    Thin layers of petrolatum-based products can protect the perilesional skin from maceration. Purpose: comfort, barrier; Mechanism: occlusive film lowers transepidermal water loss. DermNet®

16. Activity modification
    Avoid tight hats or headbands and certain carriers that press on the site. Purpose: reduce shear and bleeding; Mechanism: load reduction on fragile tissue. PMC

17. Scar management after closure
    Once healed, gentle emollients and sun avoidance help cosmetic outcome; silicone gels may be used later if advised. Purpose: flatter, paler scar; Mechanism: hydration and occlusion. DermNet®

18. Infection control around caregivers
    Hand hygiene and limiting sick contacts during early healing. Purpose: reduce pathogen exposure; Mechanism: fewer transmissible infections. DermNet®

19. Scheduled follow-ups
    Regular reviews track epithelialization and head growth; imaging only if concern for bone/venous sinus. Purpose: detect complications early; Mechanism: serial assessment. PMC

20. Emergency plan
    Families learn to seek urgent care for sudden bleeding, swelling, or fever. Purpose: fast response to life-threatening events; Mechanism: early intervention. PMC

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Drug treatments

There is no “curative” drug for ACC itself; medicines support healing and prevent/treat infection and pain. Neonatal dosing is specialized—do not use any medication without your clinician’s exact weight-based dose and schedule.

1. Topical petrolatum (emollient/barrier)
   Long description: Plain petrolatum is a first-line, inert barrier that keeps the wound moist and protects new cells. It lowers pain on dressing changes and avoids stinging. Class: emollient/occlusive. Dosage/Time: thin film at each dressing change as advised. Purpose: protect and speed epithelialization. Mechanism: reduces transepidermal water loss and provides a stable, moist environment. Side effects: rare contact sensitivity; occlusion if applied very thickly. DermNet®

2. Topical antibiotic (e.g., mupirocin) when indicated
   Long description: For suspected local bacterial colonization or early impetiginization, clinicians may use a short course of mupirocin to reduce Staphylococcus aureus. Class: topical antibacterial. Dosage/Time: thin layer as prescribed. Purpose: lower bacterial burden. Mechanism: inhibits isoleucyl-tRNA synthetase. Side effects: contact irritation or rare allergy; avoid prolonged unsupervised use to limit resistance. DermNet®

3. Systemic antibiotics (only with clear infection)
   Long description: If the baby shows fever, spreading redness, purulence, or systemic signs, the team may start weight-based intravenous or oral antibiotics targeted to likely pathogens. Class: beta-lactams or others per culture. Dosage/Time: per neonatal guidelines. Purpose: treat cellulitis/sepsis. Mechanism: bactericidal activity (e.g., cell-wall inhibition). Side effects: diarrhea, allergy; watch for neonatal adjustments. DermNet®

4. Analgesics (acetaminophen as directed)
   Long description: Pain control supports feeding and healing. Class: analgesic/antipyretic. Dosage/Time: strict neonatal weight-based dosing. Purpose: comfort and reduced stress. Mechanism: central COX/prostaglandin modulation. Side effects: liver toxicity if overdosed—never guess doses. DermNet®

5. Topical antiseptics (specialist-directed only)
   Long description: In some centers, chlorhexidine or polyhexanide may be used around—but not deep in—neonatal wounds to lower surface bioburden. Class: antiseptic. Dosage/Time: cautious, minimal use. Purpose: reduce colonization. Mechanism: membrane disruption. Side effects: chemical irritation; chlorhexidine has rare severe reactions in preterm infants, so use only as directed. DermNet®

6. Silver dressings (case-by-case)
   Long description: Some teams use silver-impregnated dressings for short periods for antimicrobial effect. Class: topical antimicrobial barrier. Dosage/Time: limited; avoid in extensive use in neonates. Purpose: reduce bacterial load. Mechanism: silver ions disrupt bacterial enzymes. Side effects: theoretical risk of systemic absorption; skin discoloration. AACN Journals

7. Medical-grade honey (selected cases)
   Long description: Honey dressings can promote autolysis and have mild antimicrobial properties. Class: topical wound adjunct. Dosage/Time: as dressing per protocol. Purpose: assist closure. Mechanism: osmotic effect, low pH. Side effects: stinging, allergy (rare). Evidence in neonates is limited; specialist use only. AACN Journals

8. Barrier creams for perilesional skin
   Long description: Zinc oxide or dimethicone around the wound can protect healthy skin from moisture. Class: barrier protectant. Dosage/Time: thin ring around, not inside, the defect. Purpose: prevent maceration. Mechanism: hydrophobic shield. Side effects: irritation if rubbed in. DermNet®

9. Topical corticosteroids (generally avoided on open defects)
   Long description: Steroids can delay epithelialization; they are usually avoided on open ACC lesions but might be used later for hypertrophic rim inflammation, under specialist care. Class: anti-inflammatory. Dosage/Time: minimal, short. Purpose: treat excessive inflammation. Mechanism: cytokine suppression. Side effects: atrophy, delayed healing. DermNet®

10. Vitamin D per pediatric guidance (systemic nutrition)
    Long description: For breastfed infants, routine vitamin D supports general health; it does not “treat” ACC but supports bone/skin health as per standard pediatric care. Class: micronutrient. Dosage/Time: per pediatric guidelines. Purpose: systemic support. Mechanism: calcium/immune modulation. Side effects: toxicity if overdosed. DermNet®

11. Topical anesthetics (rare, cautious use)
    Long description: If used at all, very sparing topical anesthetics may be applied immediately before procedures. Class: local anesthetic. Dosage/Time: minimal, single-use. Purpose: procedural comfort. Mechanism: sodium-channel blockade. Side effects: methemoglobinemia risk with certain agents—specialist direction only. AACN Journals

12. Antifungal therapy (only if proven)
    Long description: Secondary candida infection is uncommon but possible under occlusion. Class: topical azole. Dosage/Time: per culture/probability. Purpose: clear yeast overgrowth. Mechanism: ergosterol synthesis inhibition. Side effects: irritation. AACN Journals

13. Systemic analgesia/sedation (hospital use)
    Long description: For painful dressing changes in large lesions, monitored short-acting agents may be used. Class: analgesic/sedative. Purpose: humane care. Mechanism: various central pathways. Side effects: respiratory depression—ICU protocols only. AACN Journals

14. Topical hemostatic agents (selected)
    Long description: If minor oozing occurs, clinicians may use gentle pressure and selected topical hemostats. Class: hemostatic adjuncts. Purpose: control bleeding. Mechanism: clot stabilization. Side effects: local irritation. PMC

15. Prophylactic antibiotics (generally not routine)
    Long description: Routine prophylaxis is not standard; use is targeted to clinical infection signs. Class: antimicrobial. Purpose: avoid resistance and side effects. Mechanism: n/a. Side effects: antibiotic-associated complications. DermNet®

16. Topical growth-factor products (experimental in neonates)
    Long description: Evidence in newborn ACC is limited; not routine. Class: biologic/adjunct. Purpose/Mechanism: stimulate granulation/epithelialization. Side effects: unknown long-term; specialist trials only. AACN Journals

17. Systemic iron (only if indicated)
    Long description: Not for ACC itself; may be used if anemia develops from other reasons. Class: supplement. Purpose: support hemoglobin. Mechanism: hemoglobin synthesis. Side effects: GI upset. AACN Journals

18. Probiotics (not for the wound; general gut health only if advised)
    Long description: Not a wound treatment; any neonatal probiotic must be clinician-selected. Class: microbiome adjunct. Purpose/Mechanism: gut microbial balance. Side effects: rare sepsis in high-risk infants—specialist oversight needed. AACN Journals

19. Topical barrier sprays/films (peripheral skin)
    Long description: May protect surrounding skin from moisture; avoid direct application on open defect unless instructed. Class: polymer film. Purpose: prevent maceration. Mechanism: breathable protective layer. Side effects: stinging. AACN Journals

20. Vaccinations on schedule
    Long description: Not a drug for the wound but supports overall infection prevention in infancy per national schedules. Class: immunization. Purpose: broader protection. Mechanism: adaptive immunity. Side effects: routine vaccine effects. (Coordinate timing with neonatology.) DermNet®

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Dietary molecular supplements

1. Protein (adequate intake) – Supports collagen and keratin formation; mechanism: amino acids for matrix; caution: do not overfeed—follow pediatric diet plans. DermNet®

2. Zinc – Cofactor for DNA synthesis and epithelial repair; risk if overdosed. DermNet®

3. Vitamin C – Collagen cross-linking and antioxidant support; excessive doses not needed in infants. DermNet®

4. Vitamin A (physiologic amounts only) – Epithelial differentiation; avoid excess due to toxicity. DermNet®

5. Vitamin D (per guidelines) – Bone/immune support; dose by pediatric standards. DermNet®

6. Copper (if deficient) – Collagen cross-linking; deficiency uncommon in term infants. DermNet®

7. Arginine/Glutamine (special formulas only) – May support wound metabolism; neonate-specific data are limited—specialist use only. AACN Journals

8. Breast milk’s bioactive factors – IgA, lactoferrin, growth factors that support mucocutaneous defense; mechanism: passive immunity. DermNet®

9. Omega-3 fatty acids (maternal diet if breastfeeding) – Anti-inflammatory balance; modest, indirect support. AACN Journals

10. General micronutrient adequacy – Balanced maternal/infant nutrition supports repair; avoid mega-doses. DermNet®

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Immunity-booster / regenerative / stem-cell drugs

There are no approved stem-cell or “immunity booster” drugs to cure ACC lesions. The items below are context explanations only; none should be used outside clinical trials or standard neonatal protocols.

1. Topical platelet-rich preparations / growth factors (experimental) — Aim to stimulate granulation and epithelialization; mechanism: concentrated cytokines; neonatal safety data limited. AACN Journals

2. Cell-based skin substitutes (bioengineered) in research settings — Provide temporary coverage and signals for re-epithelialization; used rarely in neonates at specialized centers. AACN Journals

3. Amniotic membrane dressings (select centers) — Biologic barrier with growth factors; mechanism: reduces inflammation and supports epithelial cell migration; evidence in ACC is limited. AACN Journals

4. Recombinant growth factors (e.g., PDGF in adults) — Not standard in neonates; theoretical regenerative aid; safety/efficacy uncertain in ACC. AACN Journals

5. Prophylactic immunomodulators — Not indicated; no evidence they improve ACC outcomes. DermNet®

6. Stem-cell therapies — Not an approved therapy for ACC; neonatal risks outweigh unknown benefits; consider only in IRB-approved trials, if any. AACN Journals

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Surgeries

1. Primary surgical closure – For small to moderate scalp defects with good tissue mobility; closes the gap and lowers infection/bleeding risk. Why: faster coverage when edges can be approximated safely. AACN Journals

2. Split-thickness skin graft (STSG) – A thin sheet of skin is harvested and placed over the defect. Why: to cover larger wounds when local closure is impossible. AACN Journals

3. Local flap reconstruction – Neighboring scalp tissue is rotated/advanced to cover the area, preserving hair-bearing skin. Why: durable, like-for-like tissue with better cosmetic match. AACN Journals

4. Tissue expansion (delayed) – Expanders placed under nearby scalp create extra skin for later coverage. Why: to reconstruct very large defects with hair-bearing scalp. AACN Journals

5. Cranial/bony repair with neurosurgical support – If skull bone is absent or the sagittal sinus is exposed, combined surgery protects the brain and vessels. Why: prevent hemorrhage/injury. PMC

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 Preventions

ACC itself often cannot be “prevented” when caused by genetics. Still, families can reduce risks and improve outcomes by: (1) early prenatal/ preconception genetic counseling if there is history; (2) molecular testing in affected families for future planning; (3) routine prenatal care; (4) delivery in a center prepared for complex newborns if ACC is suspected; (5) strict hand hygiene at home; (6) safe dressing routines taught by the team; (7) protecting the site from pressure/friction; (8) ensuring adequate nutrition and follow-up; (9) keeping vaccines on schedule; (10) sun protection of healing skin. DermNet®+1

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When to see doctors urgently

Seek immediate care for fever, spreading redness, pus/odor, sudden bleeding, bulging/swelling under the lesion, lethargy/poor feeding, or any color change of the surrounding skin. Regular scheduled visits are needed until full closure and stable scarring. PMC

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What to eat and what to avoid

For infants, breast milk is the preferred nutrition unless your team advises otherwise; it supports immunity and healing. If using formula, use the type and volume your pediatric team recommends. For breastfeeding parents, aim for balanced meals with enough protein and micronutrients (iron, zinc, vitamin C) and adequate fluids. Avoid unapproved supplements for the infant, avoid applying any herbal/oily products to the wound unless prescribed, and avoid overfeeding or underfeeding; follow growth-chart checks. DermNet®

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Frequently asked questions

1. Is AR-ACC the same as all ACC?
   No. ACC is the general condition (absent skin). AR-ACC means a rare recessive inheritance; many ACC cases are sporadic or dominant. NCBI

2. Could my baby’s ACC be part of a syndrome?
   Yes—Adams–Oliver (scalp defect + limb anomalies) and Bart syndrome (aplasia cutis + epidermolysis bullosa) are well-known examples. Medscape+1

3. Which genes are linked to recessive forms?
   DOCK6 and EOGT in AOS can be recessive; other AOS genes include ARHGAP31, DLL4, NOTCH1, RBPJ. Bart syndrome often involves COL7A1 variants. MedlinePlus+2MedlinePlus+2

4. Will the skin grow back by itself?
   Many small lesions heal with conservative care over weeks, forming a scar; larger lesions may need surgery. DermNet®+1

5. What is the biggest danger?
   In large scalp defects, bleeding or infection are risks; if bone is absent or a venous sinus is exposed, urgent specialist care is needed. PMC

6. Do we always need antibiotics?
   No. Only if infected. Routine prophylaxis isn’t standard. DermNet®

7. Can we bathe the baby?
   Follow your team’s plan. Gentle spot cleansing and careful dressing changes are typical early on. DermNet®

8. Does sunscreen go on the lesion?
   No, not on open skin. Keep it covered; once healed, discuss sun protection for the scar. DermNet®

9. Is there a miracle cream?
   No. The cornerstone is gentle, moist wound care and monitoring; medicines are supportive. DermNet®

10. Will my child have hair there?
    Scalp lesions often scar; hair may be thin or absent in the scarred area. Surgical techniques can improve coverage later. AACN Journals

11. Can ACC affect the brain?
    Most cases involve skin only, but some have underlying skull defects; imaging/neurosurgical input is used when suspected. NCBI

12. Should we get genetic testing?
    Testing helps confirm a syndrome and clarify recurrence risk; a genetics team can guide the choice. MedlinePlus

13. What is the long-term outlook?
    Small, isolated lesions usually heal well; syndromic forms need more follow-up for associated issues (limbs, EB). DermNet®+1

14. Are there new treatments?
    Dressings and surgical approaches are improving; small case reports describe advanced dressings and techniques, but standard care remains conservative wound care plus surgery when indicated. BioMed Central

15. How rare is ACC?
    Estimates suggest around 3 per 10,000 live births, but numbers vary. AAP Publications

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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 20, 2025.

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