Aplasia Cutis Congenita Intestinal Lymphangiectasia (ACC-IL) Syndrome

Aplasia cutis congenita–intestinal lymphangiectasia (ACC-IL) syndrome is an extremely rare inherited disorder seen at birth. This is a very rare association seen in two brothers reported in 1985: a baby is born with a patch of missing skin (ACC)—usually on the scalp—and later develops intestinal lymphangiectasia, a lymph-vessel malformation in the bowel that leaks protein and lymph cells. The leakage causes generalized body swelling (edema), low blood protein (hypoproteinemia), and low lymphocyte counts (lymphopenia). No additional families were reported in the literature for decades, underscoring how scarce data are. NCBI+2Orpha+2

Babies have two main problems at the same time:

1. Aplasia cutis congenita (ACC) — a patch where the skin is missing, most often on the top of the scalp (vertex). The area may look like a thin shiny membrane or a shallow ulcer. Sometimes the bone under the skin can also be thin or missing. ACC itself can occur alone or as part of other syndromes. In ACC-IL, the ACC is part of a broader genetic problem. DermNet®+3NCBI+3NCBI+3

2. Intestinal lymphangiectasia (IL) — the tiny lymph vessels in the intestinal wall (lacteals) are abnormally wide (dilated). Because of this, lymph fluid leaks into the gut. The child loses proteins and lymph cells into the stool, leading to low blood protein (hypoproteinemia), swelling (generalized edema), and low lymphocytes (lymphopenia). This can cause poor weight gain and infections. PubMed

ACC-IL has been documented in only two brothers in the medical literature from 1985; one died at 2 months of age. Since then, no clear new cases were confirmed in the literature, which shows how exceptionally rare it is. It likely follows autosomal recessive inheritance (both parents are healthy carriers). Some newer reports suggest related families with lymphatic-development gene variants can show a similar triad (cutis aplasia, lymphedema/lymphangiectasia), hinting at a lymph-vessel growth pathway problem. Wiley Online Library+3NCBI+3Orpha+3

Other names

The condition is also reported as:

• “Aplasia cutis congenita with intestinal lymphangiectasia”

• “ACC-IL syndrome”

• “Bronspiegel–Zelnick syndrome” (named after the authors who first described the association)

• It is sometimes indexed under “aplasia cutis congenita–intestinal lymphangiectasia association” in rare-disease catalogs. Global Genes+3PubMed+3JAMA Network+3

Types

Because so few patients exist, doctors do not have formal “types” of ACC-IL itself. Clinically, teams describe the phenotype by combining the two components:

• A) ACC component (pattern on the scalp or elsewhere):
  ACC in general medicine is categorized by location and associations (e.g., scalp-limited; with underlying bone defect; or with other congenital anomalies). In ACC-IL, the scalp vertex is typical. The ACC part can vary in size and depth. NCBI+1
• B) IL component (how severe the protein and lymphocyte loss is):
  Doctors informally stage IL by how low the albumin is, how much edema the child has, and whether there are complications like infections (from lymphocyte loss). In ACC-IL, the IL part was severe enough to cause early generalized edema and serious outcomes in the original family. PubMed
• C) Broader lymphatic-development spectrum (research context):
  A few families with cutis aplasia plus lymphatic problems (lymphedema/intestinal lymphangiectasia) have been reported with variants in lymph-vessel genes (for example TIE1 in a 2023 short report). These are not classic ACC-IL cases, but they support the idea that abnormal lymph-vessel growth pathways can knit the features together. Wiley Online Library

Causes

Because only two classical cases exist, the exact cause is not fully proven. Doctors rely on what is known about ACC in general, IL in general, and lymphatic-development biology. Below are 20 plausible, evidence-linked causes/mechanisms that can contribute to the combined picture, grouped and written in simple language:

1. Autosomal recessive inheritance of an unknown gene in the original Ashkenazi Jewish family. Both parents carried a silent change; the child received both copies. NCBI+1

2. Abnormal lymph-vessel development (lymphangiogenesis pathways). When these pathways fail, gut lymph vessels become dilated and leaky (intestinal lymphangiectasia). PubMed

3. Candidate gene disruption (research) such as TIE1, a receptor important for blood/lymph vessel development. A 2023 report linked biallelic TIE1 variants with cutis aplasia, lymphedema, and intestinal lymphangiectasia. (This supports mechanism, but is not definitive for all ACC-IL.) Wiley Online Library

4. Shared embryologic timing. Skin formation and lymph-vessel patterning occur in early fetal life; a single genetic error could disturb both simultaneously. NCBI

5. Local scalp vulnerability. ACC most often hits the scalp vertex; this region may be uniquely sensitive to blood-flow or tissue-growth problems in utero. NCBI+1

6. Protein-losing enteropathy from IL. Dilated lacteals leak protein and lymphocytes, causing swelling and immune problems. (This explains edema and lymphopenia.) PubMed

7. Severe neonatal edema loop. Low albumin worsens edema; edema can further impair healing of the scalp defect. PubMed

8. Possible microvascular fragility, where vessels in the scalp and gut are prone to dilation or injury. (Inferred from IL physiology and ACC associations.) PubMed+1

9. Association with other lymphatic anomalies. Some reports outside classic ACC-IL describe ACC with lymphedema and IL, reinforcing a lymphatic-system disorder spectrum. PubMed+1

10. Intrauterine disruption hypothesis for ACC. Many ACC cases are thought to result from localized blood-flow or tissue-development interruptions in the fetus. NCBI

11. Matrix/connective-tissue signaling problems. Proper skin closure and lymphatic tube stability require healthy extracellular-matrix signaling; defects could affect both. (General mechanism inferred from ACC/IL biology.) NCBI

12. Rare chromosomal or single-gene variants not yet mapped, given the extreme rarity and familial clustering in original cases. NCBI

13. Immune consequences secondary to IL, with lymphocyte loss leading to infections that complicate scalp healing and overall health. PubMed

14. Nutritional losses (protein, fats, fat-soluble vitamins) through the gut due to lymph leakage, which can impair growth and tissue repair. PubMed

15. Potential overlap with primary intestinal lymphangiectasia (Waldmann disease) biology, where congenital lymph-vessel malformation causes protein loss. (Mechanistic parallel helps explain IL component.) PubMed

16. Risk from scalp bone involvement sometimes seen in ACC, making complications more likely (bleeding, infection), especially in a protein-depleted infant. NCBI

17. Autosomal-recessive founder effect (speculative, based on the original Ashkenazi family) that concentrates a very rare mutation in a community. NCBI

18. Fetal environment stressors (general ACC literature notes vascular/pressure factors), which could worsen a genetic tendency. NCBI

19. Co-occurring lymphatic edema beyond the bowel, as described in related case reports (mild congenital lymphedema), pointing to a systemic lymphatic defect. PubMed

20. No evidence that common prenatal medicines or infections cause ACC-IL. The rarity and family clustering point toward genetics rather than external exposure. (This is an evidence-based negative conclusion from case descriptions.) NCBI+1

Common symptoms and signs

Because the syndrome combines ACC and IL, symptoms reflect both:

1. At-birth scalp skin defect (ACC): a round/oval patch without normal skin on the vertex. NCBI

2. Scalp crusting or ulceration: the area may form a thin scab as it heals. NCBI

3. Possible thin skull under the lesion: sometimes bone is involved beneath ACC. NCBI

4. Swelling (edema) of the body: due to low blood protein from intestinal losses. PubMed

5. Puffy face and limb swelling: typical of protein-losing states. PubMed

6. Poor weight gain or failure to thrive: from protein and fat loss. PubMed

7. Low blood protein (hypoalbuminemia): lab finding that matches the swelling. PubMed

8. Low lymphocytes (lymphopenia): leads to more infections. PubMed

9. Frequent infections: because lymphocytes and immunoglobulins are lost. PubMed

10. Diarrhea or bulky stools: sometimes seen in IL due to fat malabsorption. PubMed

11. Low energy and irritability: from illness burden and poor nutrition. PubMed

12. Nutrient/vitamin deficiencies (A, D, E, K): fat-soluble vitamin loss through damaged lymphatics. PubMed

13. Electrolyte/trace deficiency signs: cramps, poor hair/skin quality due to chronic protein loss. PubMed

14. Weeping/slow-healing scalp wound: worse if protein levels are very low. NCBI

15. Serious complications in severe cases: such as life-threatening edema and infections in early infancy (tragically reported in one of the original brothers). NCBI

Diagnostic tests

Doctors suspect ACC-IL when a newborn has a vertex ACC lesion plus early generalized edema with low albumin and lymphocytes. Because it is ultra-rare, teams also rule out more common causes of edema and protein loss. Here are 20 tests, grouped as you requested, with plain explanations.

A) Physical examination

1. Full newborn exam with detailed scalp inspection: identifies size, depth, and borders of the ACC lesion; checks for bleeding, infection, and whether bone seems thin. This directs urgent wound care and imaging. NCBI

2. Edema assessment (pitting test): gentle thumb pressure on the shin/foot leaves a pit if protein levels are low; this supports protein-losing enteropathy suspicion. PubMed

3. Growth and nutrition review: weight, length, and head circumference trends pick up failure to thrive linked to chronic intestinal loss. PubMed

4. Infection screen from clinical signs: fever, respiratory signs, or skin infection around the ACC area—important because lymphopenia raises infection risk. PubMed

5. Systems exam for other lymphatic signs: limb swelling or facial puffiness that suggest a broader lymphatic problem beyond the bowel. PubMed

B) “Manual” bedside tests

6. Band/measure the ACC area over time: simple serial measurements (length × width) track healing in response to nutrition support. NCBI

7. Stemmer sign for lymphedema: pinching skin at the base of the toe/finger; thickened skin you cannot lift suggests lymphatic involvement. (Supportive bedside sign.) PubMed

8. Bedside stool fat check (Sudan stain when available): a quick look for fat droplets points toward fat malabsorption from IL. (Screen; formal labs follow.) PubMed

9. Hydration and urine output tracking: simple charting helps guide albumin/fluids because edema can hide dehydration. PubMed

10. Wound-care response test: careful conservative dressing vs. minor debridement response helps judge depth and infection risk in ACC. NCBI

C) Lab and pathological tests

11. Serum albumin and total protein: typically low in IL due to protein loss into the intestines—key lab clue. PubMed

12. Complete blood count with differential: shows lymphopenia (low lymphocytes) from lymph loss; may also show anemia from chronic illness. PubMed

13. Serum immunoglobulins (IgG/IgA/IgM): often reduced due to lymph leakage—explains recurrent infections. PubMed

14. Stool alpha-1 antitrypsin clearance: a standard test for protein-losing enteropathy; elevated clearance supports intestinal protein loss. PubMed

15. Fat-soluble vitamin levels (A, D, E, K) and micronutrients: deficiencies are common in IL and must be replaced. PubMed

16. Endoscopy with small-bowel biopsies: pathologist looks for dilated lacteals (the hallmark of intestinal lymphangiectasia). PubMed

17. Genetic testing (research-guided panels/exome): may look for variants in lymphatic-development genes (e.g., TIE1 in selected families), helping with counseling even if no single “ACC-IL gene” is confirmed. Wiley Online Library

D) Electrodiagnostic tests

18. Electrocardiogram (ECG): rules out cardiac causes of edema (like heart failure) that can mimic IL. It is quick and noninvasive and helps narrow the cause of swelling. PubMed

19. Bioimpedance analysis (where available): a noninvasive electrical method to estimate body fluid compartments; can support the assessment of generalized edema status. (Adjunctive; not specific.) PubMed

E) Imaging tests

20. Abdominal ultrasound with Doppler: looks for bowel wall thickening, ascites, and excludes liver/portal or cardiac causes of edema; sometimes shows suggestive bowel changes in IL. PubMed

21. Lymphatic imaging (MR lymphangiography / lymphoscintigraphy, if feasible): maps abnormal lymphatics; helps confirm systemic lymphatic malformation. (Pediatric expertise needed.) PubMed

22. Skull imaging (cranial ultrasound/CT/MRI) for ACC depth: checks the bone under the scalp lesion and screens for rare associated anomalies that change management. NCBI

Non-pharmacological treatments (therapies & other measures)

(Each item includes a brief purpose and mechanism in plain English. Because direct trials do not exist for this exact syndrome, these are standard measures used for ACC and intestinal lymphangiectasia/protein-losing enteropathy.)

1. Specialized wound care for ACC lesions. Purpose: protect the open area, prevent infection, and promote safe skin healing. Mechanism: gentle cleansing, non-adherent dressings, moisture balance, and infection surveillance reduce trauma and allow re-epithelialization; surgical referral if large or deep. Orpha

2. High-protein diet. Purpose: replace proteins lost through the gut to restore albumin and growth. Mechanism: increased protein intake offsets ongoing intestinal losses. NCBI

3. Low-fat diet with medium-chain triglycerides (MCT). Purpose: lessen lymph flow through intestinal lymphatics, reducing leakage. Mechanism: MCTs are absorbed directly into the portal vein rather than lymphatics, so less fat enters lacteals, decreasing lymph pressure/leak. NCBI

4. Edema care (compression and limb elevation as tolerated). Purpose: reduce swelling and discomfort. Mechanism: external pressure and gravity assist fluid return where safe and feasible; individualized in infants. NCBI

5. Electrolyte and fluid balance planning. Purpose: avoid dehydration or overload during albumin shifts or diarrhea. Mechanism: careful fluid plans match ongoing GI and lymph losses. PubMed

6. Infection-prevention hygiene and early evaluation. Purpose: reduce risk while lymphocyte levels are low. Mechanism: prompt care for fever, clean dressing technique, and household hygiene lower exposure and skin/line infections. PubMed

7. Routine vaccinations per schedule (with clinician guidance). Purpose: protect against preventable infections in a child who may be losing immune proteins. Mechanism: active immunization builds specific immunity; timing may be adjusted if profound lymphopenia is present. NCBI

8. Micronutrient repletion (dietitian-guided). Purpose: correct fat-soluble vitamin (A, D, E, K) and mineral deficiencies from malabsorption. Mechanism: targeted supplementation replaces losses; forms that bypass lymph (e.g., water-miscible) are often chosen. NCBI

9. Developmental and feeding support. Purpose: maintain growth and skills amid chronic illness. Mechanism: occupational/feeding therapy addresses oral aversion, fatigue, and safe calorie density. NCBI

10. Sun/trauma protection for healing scalp. Purpose: prevent injury and scarring of the ACC site. Mechanism: physical barriers and gentle handling protect fragile new skin. Orpha

11. Genetic counseling for the family. Purpose: explain rarity, recurrence uncertainty, and related lymphatic disorders. Mechanism: counseling integrates family history and, when indicated, genetic testing. NCBI

12. Physical therapy for edema-related mobility issues (age-appropriate). Purpose: preserve movement and comfort. Mechanism: gentle range-of-motion and positioning reduce stiffness and pooling. NCBI

13. Skin-care education for caregivers. Purpose: lower infection risk and protect grafts/dressings. Mechanism: simple routines, warning signs, and when to seek care. Orpha

14. Allergy-safe nutrition planning. Purpose: avoid needless fat restrictions or triggers that worsen stools. Mechanism: stepwise diet trials under dietitian supervision find the best tolerated formula/foods. NCBI

15. Psychosocial support. Purpose: reduce stress in families facing a rare disorder. Mechanism: connection to rare-disease networks and counseling. Global Genes

16. Close growth and lab monitoring. Purpose: detect relapses of protein loss early. Mechanism: tracking weight, albumin, lymphocyte counts, vitamins, and stool findings guides care. PubMed

17. Avoidance of high-fat feeds outside an MCT plan. Purpose: prevent spikes in lymph flow. Mechanism: limiting long-chain triglycerides reduces lacteal pressure. NCBI

18. Careful line care if central access is used. Purpose: prevent line infections and thrombosis during albumin/TPN therapy. Mechanism: sterile technique and protocols. PubMed

19. School and infection-exposure planning as child grows. Purpose: balance normal life with immune risk. Mechanism: individualized plans for attendance and prompt evaluation of illness. NCBI

20. Transition planning to specialized centers if needed. Purpose: ensure access to lymphatic imaging/interventions. Mechanism: referral to centers experienced in primary lymphatic disorders. PMC

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Drug treatments

Because this association is ultra-rare, drugs are chosen from experience treating intestinal lymphangiectasia, protein-losing enteropathy, and wound infection prophylaxis. Evidence quality ranges from case reports to small series.

1. Albumin infusions (IV). Class: plasma protein. Example dose: 1–2 g/kg intermittently with diuretic cover. Purpose: temporarily restore oncotic pressure and reduce edema. Mechanism: replaces lost albumin. Side effects: fluid overload, infusion reactions. PubMed

2. Loop diuretics (e.g., furosemide). Class: diuretic. Example dose: pediatric 0.5–1 mg/kg/dose. Purpose: mobilize edema after albumin. Mechanism: blocks sodium/Cl reabsorption in loop of Henle. Side effects: electrolyte loss, ototoxicity (high doses). PubMed

3. Octreotide. Class: somatostatin analog. Example dose: 1–10 µg/kg/h IV infusion or SC divided doses (case-based). Purpose: reduce intestinal lymph flow and protein loss. Mechanism: decreases splanchnic blood flow and lymph production. Side effects: gallstones, glucose changes. PMC

4. Sirolimus (rapamycin). Class: mTOR inhibitor. Example pediatric dosing is weight/level-guided. Purpose: used off-label in complex lymphatic anomalies to reduce lymphatic proliferation/leak. Mechanism: mTOR pathway inhibition in lymphatic endothelium. Side effects: immunosuppression, mouth ulcers, hyperlipidemia—requires level monitoring. PMC

5. Prophylactic antibiotics (selected cases). Class: varies. Purpose: prevent skin/wound or line infections in high-risk periods. Mechanism: reduces bacterial load; used short-term with clear indication. Side effects: resistance, GI effects. PubMed

6. Broad-spectrum antibiotics for proven infections. Class: varies by culture. Purpose: treat sepsis/cellulitis/line infections. Mechanism: pathogen-directed therapy. Side effects: drug-specific risks. PubMed

7. Fat-soluble vitamins (A, D, E, K) and minerals. Class: supplements (pharmacologic dosing). Example: water-miscible ADEK preparations; vitamin D per level. Purpose: correct malabsorption-related deficits. Mechanism: replace lost micronutrients. Side effects: hypervitaminosis if overdosed—monitor levels. NCBI

8. Calcium and phosphorus with vitamin D. Class: mineral/vitamin. Purpose: protect bones during chronic malabsorption. Mechanism: supports mineralization. Side effects: hypercalcemia if excessive. NCBI

9. IV immunoglobulin (IVIG) (select patients). Class: pooled immunoglobulin. Example: 0.4 g/kg monthly if recurrent serious infections with low IgG. Purpose: augment humoral immunity when protein loss depletes IgG. Side effects: headache, aseptic meningitis, thrombosis—needs specialist oversight. NCBI

10. Proton-pump inhibitor (e.g., omeprazole) if gastritis/ulcer risk. Class: acid suppression. Purpose: GI protection in stressed infants or during steroids/other meds. Mechanism: blocks acid secretion. Side effects: micronutrient malabsorption with long use. PubMed

11. Topical antimicrobials for ACC wound only if signs of infection. Class: topical antibiotic/antiseptic. Purpose: treat localized infection. Mechanism: reduces bacterial load on lesion. Side effects: irritation, resistance. Orpha

12. Analgesics (acetaminophen first-line). Class: analgesic/antipyretic. Purpose: pain/fever control during procedures. Mechanism: central COX modulation. Side effects: hepatotoxicity if overdosed. Orpha

13. Medium-chain triglyceride (MCT) formulas (pharmacologic nutrition). Class: medical food. Purpose: primary “therapy” to lower lymph flow. Mechanism: portal absorption bypasses lymphatics. Side effects: GI upset if too rapid. NCBI

14. Electrolyte solutions (oral/IV). Class: fluid therapy. Purpose: correct dehydration during diarrhea/diuresis. Mechanism: repletion of Na/K/Cl/HCO₃⁻. Side effects: over/under-correction risks. PubMed

15. Thrombosis prophylaxis in select high-risk settings. Class: anticoagulant. Purpose: counter pro-thrombotic state from protein loss/catheters. Mechanism: inhibits clotting cascades. Side effects: bleeding—specialist decision only. PMC

16. Steroids (short trial only in selected cases). Class: glucocorticoid. Purpose: sometimes tried in protein-losing enteropathy but evidence is weak for primary IL. Mechanism: anti-inflammatory. Side effects: growth suppression, infection risk—generally avoided unless clear indication. PMC

17. Prokinetics/antidiarrheals (case-by-case). Class: varies. Purpose: symptom relief. Mechanism: motility modulation/fluid absorption. Side effects: drug-specific risks; pediatric caution. PubMed

18. Zinc repletion. Class: trace element. Purpose: wound healing and immune function. Mechanism: cofactor in epithelial repair. Side effects: GI upset; copper imbalance. Orpha

19. Parenteral nutrition (TPN) when oral/enteral fails (as a “drug-level” therapy). Class: intravenous nutrition. Purpose: bridge severe malabsorption/failure to thrive. Mechanism: bypasses gut entirely. Side effects: line infection, cholestasis—specialist management. PubMed

20. Bile-acid binders (selected diarrhea phenotypes). Class: sequestrant. Purpose: reduce bile-acid diarrhea in malabsorption. Mechanism: binds bile acids in lumen. Side effects: vitamin loss—use cautiously. PMC

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Dietary molecular supplements

1. Water-miscible vitamin A to support vision/epithelium during fat malabsorption; dosing guided by levels to avoid toxicity. Mechanism: replaces fat-soluble vitamin lost via lymph leak. NCBI

2. Vitamin D₃ in monitored doses for bone health during chronic protein and fat loss; mechanism is endocrine support of calcium absorption. NCBI

3. Vitamin E (alpha-tocopherol) in water-miscible form to protect cell membranes; dose per levels. NCBI

4. Vitamin K (often oral/IM under medical care) to maintain clotting factor activation in malabsorption states. NCBI

5. Calcium citrate with vitamin D to maintain bone mineralization. NCBI

6. Phosphate supplements if hypophosphatemia appears with malnutrition. NCBI

7. Zinc to aid skin healing and immune function, dose-monitored. Orpha

8. Selenium as antioxidant support when labs show deficiency. NCBI

9. Iron if anemia is documented, with monitoring for tolerance and response. PubMed

10. Essential amino acids (medical nutrition) to bolster nitrogen balance when protein losses are heavy. PubMed

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Immunity-booster / regenerative / stem-cell drugs

There are no proven “immunity boosters,” regenerative medicines, or stem-cell drugs for this syndrome. What clinicians sometimes use are immunologic supports for complications:

1. IVIG (see above) for recurrent severe infections with low IgG: replacement, not a “booster.” NCBI

2. Vaccinations on-time (doctor-guided) to build specific immunity. NCBI

3. Antimicrobial prophylaxis in narrowly defined high-risk windows. PubMed

4. Sirolimus in complex lymphatic malformations (off-label) to reduce lymphatic leak—not regenerative; requires close monitoring. PMC

5. Nutritional immune support (adequate protein, vitamins A/D/Zn/Se) to correct deficiencies that weaken immunity. NCBI

6. Clinical-trial enrollment for lymphatic-targeted therapies when available. Evidence remains limited. PMC

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Surgeries / procedures (used sparingly and case-by-case)

1. Split-thickness skin graft or local flap for large/deep ACC. Why: to protect skull/brain and speed safe coverage when spontaneous healing isn’t feasible. Orpha

2. Repair of underlying skull defect if present. Why: to protect intracranial structures. Orpha

3. Resection of a localized bowel segment with focal intestinal lymphangiectasia (rare scenario). Why: reduce protein loss when disease is segmental. PubMed

4. Feeding tube placement when oral intake cannot meet needs. Why: ensure stable delivery of MCT/medical formulas. PubMed

5. Central venous catheter (for albumin/TPN) with strict line-care protocols. Why: life-saving support during severe phases. PubMed

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Prevention tips

1. Keep diet plans (high-protein, MCT-based) consistent. NCBI

2. Ensure micronutrient monitoring and repletion. NCBI

3. Maintain wound-care routines until full healing. Orpha

4. Promptly treat infections; seek care early for fever. PubMed

5. Vaccinate per pediatric schedule with specialist input. NCBI

6. Avoid unnecessary high-fat meals outside the plan. NCBI

7. Keep growth and lab follow-up appointments. PubMed

8. Practice line-care hygiene if central access is present. PubMed

9. Use sun/trauma protection for the scalp. Orpha

10. Connect with rare-disease support networks for practical advice. Global Genes

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When to see doctors urgently

Seek immediate care for fever, spreading skin redness, respiratory distress, marked swelling, poor feeding, vomiting/diarrhea with signs of dehydration, or sudden lethargy. Regular follow-up is vital to adjust nutrition, monitor albumin and lymphocyte counts, and reassess growth and development. These alerts mirror standard guidance for intestinal lymphangiectasia and complex wounds in infants. PubMed

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What to eat and what to avoid

• Eat/Use: high-protein foods appropriate to age; MCT-based formulas/oils; water-miscible A, D, E, K vitamins; balanced minerals; frequent small feeds if needed. NCBI

• Avoid/Limit: high amounts of long-chain fats (typical oils, creamy foods) outside the medically planned allowance; unpasteurized foods; and any non-prescribed “immune boosters” with unknown safety. NCBI

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Frequently asked questions

1) Is this genetic?
We don’t know for sure in this exact association; the two reported siblings suggest a possible inherited tendency, and related lymphatic disorders (e.g., Hennekam syndrome) are genetic, so clinicians may discuss testing. NCBI

2) Is it the same as Hennekam syndrome?
No. They share intestinal lymphangiectasia and edema, but the classic two-sibling report centered on ACC with IL; Hennekam has broader features (facial traits, lymphedema, development issues). NCBI

3) How common is it?
Extremely rare—only two brothers described in detail in 1985, with no large series since. NCBI

4) Can the scalp defect heal on its own?
Small ACC patches can re-epithelialize with careful dressings; larger/deeper ones may need surgery. Orpha

5) Why does a low-fat/MCT diet help?
MCTs bypass intestinal lymphatics, so less lymph is produced and lost. NCBI

6) Will my child be prone to infections?
Possibly, because lymph/leaked proteins include immune components; vaccination and careful monitoring help. PubMed

7) Is octreotide a cure?
No; it may reduce lymph flow and protein loss in some cases but is not curative. PMC

8) Is sirolimus safe for infants?
It can be considered only by specialists for complex lymphatic anomalies; it requires blood-level monitoring and has immunosuppressive risks. PMC

9) Are “stem cells” used?
No proven role; claims online are not evidence-based for this condition. PMC

10) Can surgery fix intestinal lymph leaks?
Only if disease is segmental; most cases are diffuse and respond better to diet/medical therapy. PubMed

11) Will growth be normal?
Many children with IL struggle with weight gain; specialized nutrition improves outcomes. NCBI

12) How is protein loss measured?
Stool alpha-1 antitrypsin and endoscopic biopsies are commonly used. PubMed

13) What is the long-term outlook?
Data are too limited for this exact association; outcomes vary with severity of IL, response to diet, and complications. NCBI

14) Should siblings be tested?
Discuss with genetics; decisions depend on family history and clinical features. NCBI

15) Where can families find support?
Rare-disease organizations and lymphatic-anomaly centers can help connect families and clinicians. Global Genes

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

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

Last Updated: September 20, 2025.

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