Autosomal Recessive Congenital Ichthyosis 1

Autosomal Recessive Congenital Ichthyosis 1—often shortened to ARCI-1—is a rare, inherited skin disease that starts at birth or in early life. “Autosomal recessive” means a child gets one non-working copy of the gene from each parent; the parents are usually healthy carriers. In ARCI-1, the TGM1 gene does not work properly. This gene makes an enzyme (transglutaminase-1) that helps “seal” the outer skin barrier. When it is faulty, the skin cannot lock in moisture or protect the body well. As a result, the skin becomes very dry, scaly, and sometimes red. Some babies are born with a “collodion membrane,” a tight, shiny covering that later peels off. Problems like eye-lid turning-out (ectropion), lip turning-out (eclabium), thick palms/soles, heat intolerance, and easy skin infections can happen. ARCI-1 lasts for life, but symptoms can be managed with good daily skin care and medical support. NCBI+1

ARCI-1 is a lifelong, inherited skin condition. Babies are often born with a tight, shiny “collodion” membrane. Later, the skin becomes very dry and peels or forms thick scales over most of the body. The redness of the skin can vary. “Autosomal recessive” means a child must get one faulty gene from each parent. In ARCI-1 the usual gene is TGM1, which makes an enzyme (transglutaminase-1) that helps “seal” the outer skin barrier. When this enzyme does not work, water is lost from the skin, infections happen more easily, and the skin becomes scaly and cracked. ARCI-1 does not have a cure yet, but good daily skin care and (in selected severe cases) retinoid medicines can improve comfort and function. NCBI+2PMC+2

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Other names

• ARCI-1

• TGM1-related lamellar ichthyosis (many people with ARCI-1 have the lamellar ichthyosis pattern)

• Autosomal recessive congenital ichthyosis due to TGM1

• Lamellar ichthyosis 1 (LI1) (historic/OMIM usage) NCBI+2MedlinePlus+2

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Types

ARCI is an umbrella term. People with ARCI-1 can show one of several “clinical types.” Your doctor uses these descriptions to explain the main look of the skin—not different diseases.

1. Lamellar ichthyosis (LI): Large, dark, plate-like scales over most of the body; minimal redness. Very common in TGM1 disease. NCBI+1

2. Congenital ichthyosiform erythroderma (CIE): Fine, white scales with noticeable redness. This can occur in ARCI genes, including TGM1. NCBI

3. Collodion baby at birth: Shiny, tight membrane covering the newborn, later shedding to reveal LI or CIE. A few infants improve a lot (“self-improving collodion baby”). NCBI

4. Bathing-suit ichthyosis (temperature-sensitive LI): Heavier scaling on warmer body areas (trunk, neck, scalp), often with specific TGM1 variants. NCBI

5. Harlequin ichthyosis (HI): The most severe ARCI pattern caused mainly by ABCA12; not typical for ARCI-1 but within the ARCI spectrum. It helps doctors with differential diagnosis and counseling. PMC+2ScienceDirect+2

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Causes

In ARCI-1, the root cause is a change (variant/mutation) in TGM1. However, ARCI as a group can be caused by several genes that all disturb the skin barrier. Below, each “cause” is one gene/molecular fault known in ARCI. We list TGM1 first because ARCI-1 is, by definition, TGM1-related.

1. TGM1 variants (the defining cause of ARCI-1): TGM1 encodes transglutaminase-1, an enzyme that cross-links proteins and lipids to build the skin’s “cornified envelope.” Faults lower or remove enzyme activity, so the barrier leaks water and irritants enter. Common features include collodion membrane and lamellar scales. NCBI+1

2. ABCA12 variants: ABCA12 is a lipid transporter. Severe loss causes harlequin ichthyosis; milder variants can mimic LI/CIE. Recognizing ABCA12 helps separate HI from TGM1 disease. PMC+1

3. ALOX12B variants: This lipoxygenase helps process skin lipids. Faults disrupt lipid signaling and barrier formation, often causing CIE-like redness and fine scaling. NCBI+1

4. ALOXE3 variants: Another epidermal lipoxygenase; changes interfere with lipid processing in the stratum corneum, giving ARCI phenotypes. NCBI+1

5. NIPAL4 (ichthyin) variants: Thought to aid lipid handling/transport; defects cause white superficial scales and erythema from birth. preventiongenetics.com

6. CYP4F22 variants: A fatty-acid ω-hydroxylase; loss disturbs acylceramide formation, a key lipid “glue,” leading to ARCI. PMC

7. PNPLA1 variants: An enzyme that attaches ω-hydroxy fatty acids to ceramides; variants block “ω-O-acylceramide” production and weaken the barrier. MDPI

8. CERS3 variants: Ceramide synthase 3 builds very-long-chain ceramides essential for barrier strength; mutations reduce these lipids and cause LI/CIE. PLOS+1

9. SDR9C7 variants: A retinol-metabolism enzyme; faults alter epidermal differentiation signals and present with dry scaly skin from infancy. OUP Academic

10. SULT2B1 variants: A cholesterol sulfotransferase; mutations disturb cholesterol sulfate balance, changing cornification and producing ARCI. PubMed+1

11. LIPN variants: Epidermal lipase N; rare families show late-onset ARCI with abnormal lipid breakdown in the stratum corneum. PMC

12. Large deletions/duplications in ARCI genes: Not only point mutations—copy-number changes (e.g., in TGM1, CYP4F22) can also cause ARCI by removing essential gene parts. PMC

13. Compound heterozygosity: Having two different harmful variants (one on each parental copy) in a single ARCI gene (e.g., ABCA12) can produce disease. Wiley Online Library

14. Founder variants: Some populations share recurrent TGM1 or other ARCI-gene variants passed down over generations, raising local disease frequency. Medical Journals Sweden

15. Missense variants with residual function: Some TGM1 changes keep small enzyme activity; the skin looks milder or temperature-sensitive (bathing-suit pattern). NCBI

16. Nonsense/frameshift variants (null alleles): Create truncated proteins; more severe barrier failure and earlier, heavier scaling. (General ARCI genetics overview.) NCBI

17. Splice-site variants: Disrupt how RNA is cut and joined; reported in several ARCI genes including CERS3 and TGM1. OUP Academic

18. Uniparental disomy (rare mechanism): A person may inherit two copies of a faulty ARCI gene from one parent, causing ARCI without classic carrier-carrier pairing. Reported with CERS3. OUP Academic

19. Temperature-sensitive TGM1 defects: Some variants make enzyme function drop at higher skin temperatures, explaining bathing-suit ichthyosis distribution. NCBI

20. Yet-unidentified ARCI loci: Research continues; a small fraction of families have ARCI without an identified gene, suggesting more genes remain to be found. NCBI

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Common symptoms

1. Generalized scaling: Dry, plate-like or fine scales over most of the body due to a weak skin barrier and slow shedding. NCBI

2. Redness (erythroderma): In some people, the skin looks red and inflamed because the barrier leaks and the immune system stays “on.” NCBI

3. Collodion membrane at birth: A shiny tight film that cracks and peels in days to weeks, often the first sign. NCBI

4. Ectropion (eyelids turned out): Tight skin pulls the lower eyelids outward, drying the eyes and risking irritation. NCBI

5. Eclabium (lips turned out): Tension around the mouth causes feeding difficulty in newborns. NCBI

6. Palmoplantar thickening: Thick, tough skin on palms and soles; painful cracks can form. NCBI

7. Heat intolerance / reduced sweating: Damaged ducts and thick scales block sweat, making overheating easier. NCBI

8. Itching and discomfort: Dryness and micro-cracks trigger itch; scratching can worsen damage and cause infection. NCBI

9. Skin fissures and pain: Deep cracks can bleed and hurt, especially on hands/feet. NCBI

10. Frequent skin infections: The open barrier lets bacteria in more easily; careful hygiene helps. NCBI

11. Dehydration risk in infants: Extra water loss through damaged skin can be serious in newborns. NCBI

12. Feeding and growth challenges (infancy): Tight facial skin and extra energy needs can affect feeding and weight gain early on. NCBI

13. Eye irritation/exposure: Due to ectropion, the cornea can dry; lubrication and eye care are important. NCBI

14. Ear canal scaling and muffled hearing: Scale build-up blocks sound; gentle cleaning helps. NCBI

15. Psychosocial stress: Visible skin changes can affect confidence and social comfort; counseling and support groups can help. firstskinfoundation.org

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Diagnostic tests

A) Physical examination (bedside/clinical)

1. Full-body skin exam: The doctor looks at the pattern (large plates vs fine scale, redness), thickness, and distribution to classify LI vs CIE and guide genetic testing. NCBI

2. Newborn exam for collodion membrane: Identifies tight shiny covering, ectropion/eclabium, and need for NICU care (warm, humid environment). NCBI

3. Palm/sole assessment: Checks for thickening, fissures, and pain to plan emollients, keratolytics, and footwear advice. NCBI

4. Eye exam at bedside: Screens for ectropion and exposure; triggers early lubricant/ophthalmology input. NCBI

5. Temperature and sweating observation: Looks for heat intolerance; patients get advice on cooling and activity limits. NCBI

B) “Manual” or simple office tests

6. Adhesive tape-stripping (barrier probe): Gently removes outer layers to study barrier function and tailor moisturizers/keratolytics. (Standard dermatology technique referenced in ARCI management overviews.) NCBI

7. Scale sampling for microscopy/culture: Rules out fungal superinfection (dermatophytes/yeasts) when redness or odor increases. NCBI

8. Severity scoring with photos: Serial photographs help track response to therapy and relay changes to specialists and families. NCBI

C) Laboratory & pathological tests

9. Comprehensive genetic testing panel for ichthyosis: Looks for TGM1 and other ARCI genes in one test; now the single most informative test. NCBI

10. Whole-exome or genome sequencing: Used when panel is negative; can find rare or new gene causes. NCBI

11. Copy-number analysis (deletions/duplications): Detects missing or extra gene sections (e.g., in TGM1 or CYP4F22). PMC

12. Skin biopsy with light microscopy: Shows thick orthokeratotic hyperkeratosis and other cornification changes; supports diagnosis when genetics are pending. NCBI

13. Electron microscopy (selected centers): Visualizes lipid layers and corneocyte envelopes to refine the pattern. NCBI

14. Basic labs in infants (electrolytes, hydration markers): Screens for fluid loss, infection, and failure to thrive during the newborn period. NCBI

15. Vitamin D and nutritional checks: Long-term scaling and reduced sun exposure can lower vitamin D; supplements may be needed. (Management consideration in ARCI reviews.) NCBI

D) Electrodiagnostic / physiologic tests (when needed)

16. Thermoregulatory sweat testing: Maps sweating; hypohidrosis supports heat-risk counseling and aids disability assessment. NCBI

17. QSART (quantitative sudomotor axon reflex test): Measures sweat function in small skin areas; can document reduced sweating in severe scaling. NCBI

E) Imaging and instrument-based exams

18. Dermoscopy: A hand-held skin scope shows scale pattern and follicular plugging, helping clinicians monitor subtle changes. NCBI

19. In-vivo confocal microscopy (specialty centers): Non-invasive “optical biopsy” displays epidermal architecture and scale layers to support type assignment. NCBI

20. Prenatal ultrasound (at-risk pregnancies): In families with known severe ARCI forms, late-pregnancy ultrasound may show features (e.g., in harlequin ichthyosis) that trigger genetic testing; definitive prenatal diagnosis relies on DNA testing. PMC

Non-pharmacological treatments (therapies & other measures)

Note: These measures are the day-to-day backbone of care. They lower water loss, soften scale, prevent cracks, reduce infection risk, and make movement easier. Individualize for age, climate, and access to supplies.

1. Warm soaks, then “soak-and-seal.”
   Soak in lukewarm water (5–10 min), pat dry, and immediately apply a thick ointment (petrolatum, petrolatum-lanolin mix). This traps water in the skin and softens scale, cutting itch and cracking. Do this at least twice daily; more often in dry weather. Evidence-based principles come from barrier biology in ARCI and expert consensus in ichthyosis care. NCBI

2. Humidifier and gentle climate control.
   Indoor humidity of ~40–50% and avoiding overheating reduces transepidermal water loss (TEWL). It keeps scales more flexible and lowers fissure risk. This non-drug step often reduces the need for frequent keratolytics. NCBI

3. Daily emollient ointments (petrolatum-based).
   Greasy ointments are better than creams or lotions for ARCI-1 because they form a stronger occlusive layer. Apply immediately after bathing and whenever skin looks dull or “ashy.” This improves the barrier that TGM1 cannot fully build. NCBI

4. Safe, gentle scale removal.
   Use soft washcloths, silicone scrubbers, or microfiber mitts after soaking. Avoid aggressive scraping. This reduces painful cracks and improves flexibility without damaging fragile skin. NCBI

5. Avoid harsh soaps; use mild cleansers.
   Fragrance-free, low-foaming cleansers limit stripping of lipids from the already weak barrier, reducing dryness and irritation after washing. NCBI

6. Eye care for ectropion risk.
   Frequent preservative-free lubricating eye drops and night eye ointment can protect the cornea when lower lids are pulled down by tight facial skin. Seek ophthalmology if tearing, light sensitivity, or pain occurs. firstskinfoundation.org

7. Nail and fissure care.
   Clip nails short to limit excoriations. Seal skin cracks with petrolatum and simple occlusion (bandage) overnight to speed healing and lessen infection risk. NCBI

8. Scalp care.
   Regular emollient oils (e.g., mineral oil) with gentle de-scaling after soaking loosen scale safely. This reduces traction and hair breakage sometimes seen with TGM1 variants. JAMA Network

9. Sun and heat management.
   Loose, breathable clothing and shade lower overheating risk (reduced sweating through scale can impair heat loss). Sunscreen on exposed areas is important; choose fragrance-free formulas. NCBI

10. Psychosocial support & education.
    Clear instructions and support groups improve adherence and quality of life. Families learn to individualize care and recognize early infection signs. (FIRST Skin Foundation resources are helpful.) firstskinfoundation.org

11. Ear canal hygiene.
    Periodic softening drops and clinician debridement prevent conductive hearing issues from packed scale. Report muffled hearing or ear fullness. JAMA Network

12. Hand/foot function care.
    Regular emollients plus careful keratolysis on palms/soles improve grip and walking comfort; padded insoles may help. NCBI

13. Infection vigilance.
    Clean small cracks; watch for redness, warmth, pus, or fever. Early care prevents cellulitis. NCBI

14. Newborn “collodion” care in hospital.
    Humidified incubator, careful emollients, and infection prevention are standard; ophthalmology for eyelids, ENT for mouth opening when needed. NCBI

15. Therapeutic clothing.
    Silk or soft cotton layers reduce friction and itch; breathable sleep sacks help infants avoid scratching. NCBI

16. Itch management without drugs.
    Cool compresses, moisturizers, and mindfulness-based strategies help reduce scratch cycles and improve sleep. NCBI

17. Foot care & footwear.
    Wide shoes and cushioned socks lower blistering from stiff soles with scale; emollients post-activity. NCBI

18. Wound-healing basics.
    Petrolatum occlusion and gentle cleansing support re-epithelialization in fissures; avoid harsh antiseptics that sting/dry. NCBI

19. Trigger avoidance.
    Limit long hot showers, fragranced products, and strong detergents that worsen dryness and stinging. NCBI

20. Care plans for school/work.
    Document needed moisturization breaks, temperature needs, and PE modifications to prevent overheating and fissures. NCBI

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 Drug treatments

Important: No medicine is FDA-approved specifically for ARCI-1. Dermatologists often use retinoids and keratolytics off-label to reduce scale. Below I cite FDA labels for the drug’s approved uses and safety/contraindications; dosing is individualized and usually starts low in ichthyosis. Always consider pregnancy prevention programs for systemic or topical retinoids.

1. Acitretin (oral retinoid; off-label for ARCI).
   Class: Retinoid. Dose/time: Often 0.2–0.5 mg/kg/day initially, then titrated; continuous or intermittent per response. Purpose/mechanism: Normalizes keratinization and reduces scale thickness. Key safety: Pregnancy is absolutely contraindicated and requires strict contraception during therapy and for ≥3 years after stopping; monitor lipids, liver enzymes, mood, bones. Evidence context: Widely used off-label for severe lamellar ichthyosis; consensus supports careful use by experts. FDA label (on-label for psoriasis) used for safety/risks. Side effects: Dryness, cheilitis, hair thinning, liver and lipid abnormalities, teratogenicity. PMC+3FDA Access Data+3FDA Access Data+3

2. Isotretinoin (oral retinoid; off-label for ARCI).
   Class: Retinoid. Dose/time: Low-to-moderate daily dosing is typical in ichthyosis, titrated by response. Purpose/mechanism: Reduces hyperkeratosis and scaling by altering keratinocyte differentiation. Key safety: Strict iPLEDGE pregnancy prevention; psychiatric, hepatic, lipid monitoring. Side effects: Mucocutaneous dryness, teratogenicity, lab changes. FDA label (for severe nodulocystic acne) informs safety. FDA Access Data+1

3. Tazarotene (topical retinoid; off-label).
   Class: Topical retinoid. Use: Thin layer nightly to limited areas of thick scale; often mixed with emollient to reduce irritation. Mechanism: RAR-mediated normalization of differentiation. Safety: Irritation, photosensitivity; contraindicated in pregnancy. FDA labels (psoriasis/acne) guide risk communication. FDA Access Data+2FDA Access Data+2

4. Ammonium lactate 12% (keratolytic/humectant).
   Class: Alpha-hydroxy acid humectant. Use: 1–2 times daily to soften scale; avoid on fissured or inflamed skin if stinging. Mechanism: Increases stratum corneum water and loosens cell-to-cell bonds. Safety: Can sting/irritate; sun-sensitivity. FDA label indicates use for xerosis and ichthyosis vulgaris; used off-label in ARCI to aid scale control. FDA Access Data+1

5. Urea 20–40% creams/ointments (keratolytic/humectant).
   Class: Keratolytic emollient. Use: Nightly to thick scale on hands/feet; lower strengths on body; avoid in infants if irritation. Mechanism: Draws water and breaks hydrogen bonds in keratin. Safety: Burning/stinging possible. FDA-hosted DailyMed/SPL entries describe class effects and cautions. DailyMed+1

6. Salicylic acid 3–6% (keratolytic; avoid large areas in children).
   Class: Keratolytic. Use: Spot-treat very thick plaques (palms/soles). Mechanism: Breaks down intercellular cement. Safety: Risk of systemic salicylate toxicity if used over large areas or under occlusion, especially in children; avoid in influenza/varicella due to Reye’s risk. FDA SPL materials warn about systemic exposure. FDA Access Data+1

7. Topical petrolatum/skin protectants (OTC monograph).
   Class: Occlusive emollient. Use: Multiple times daily and after bathing. Mechanism: Physical barrier that limits TEWL and soothes fissures. Safety: Generally safe; can feel greasy. Rationale grounded in barrier failure in ARCI. NCBI

8. Topical antibiotics (for secondary infection, short courses).
   Class: Antibacterial. Use: Localized impetiginized cracks. Mechanism: Reduces bacterial load to allow healing. Safety: Resistance/dermatitis with overuse; escalate to oral antibiotics if spreading infection. Use is general dermatologic practice; focus is on infection control in barrier-defective states. NCBI

9. Oral antibiotics (for cellulitis).
   Class: Systemic antibacterial. Use: Fever, expanding redness, pain. Mechanism: Treats bacterial invasion through fissures. Safety: Drug-specific. General ARCI care guidance emphasizes infection vigilance. NCBI

10. Ocular lubricants (for ectropion-related dryness).
    Class: Ophthalmic lubricants. Use: Daytime drops and nighttime ointments. Mechanism: Replaces tears and protects cornea. Safety: Typically well tolerated. Ectropion risk is documented in ARCI-TGM1 phenotypes. firstskinfoundation.org+1

Additional agents often discussed by specialists (all off-label in ARCI): low-dose topical retinoids to plaques; compounded cholesterol/ceramide ointments; short cautious topical steroid use on eczematized areas; keratolytic rotations (lactic acid ↔ urea) to limit irritation. Expert consensus supports individualized regimens. PMC

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Dietary molecular supplements

No supplement cures ARCI-1. These may support general skin health or reduce inflammation/itch in some people. Discuss interactions and pregnancy.

1. Omega-3 fatty acids (fish oil).
   May modestly improve dryness/itch via anti-inflammatory lipid mediators. Start low to avoid GI upset; stop before procedures if advised. Evidence in ichthyosis is limited; benefits are more general to skin barrier and inflammation. NCBI

2. Vitamin D (if deficient).
   Correcting deficiency can support overall skin immunity and barrier function. Dose per lab results and clinician advice; avoid excessive dosing. NCBI

3. Biotin (select hair/nail complaints).
   Only helpful if deficient; routine high-dose use is not evidence-based and can interfere with lab tests (e.g., troponin). Use cautiously. NCBI

4. Zinc (if low).
   Zinc supports skin healing and immunity; supplement only with documented deficiency to avoid copper depletion. NCBI

5. Evening primrose oil (GLA).
   Possible anti-inflammatory effect; data in ichthyosis are limited and mixed; GI upset is possible. NCBI

6. Ceramide-containing topical moisturizers (technically topical, not oral).
   Help replenish missing barrier lipids; used after bathing. NCBI

7. Probiotics (general skin health; uncertain).
   Some people report less itch; evidence in ARCI is insufficient. Avoid in immunocompromised states. NCBI

8. Antioxidant-rich diet (fruits/vegetables).
   Supports wound healing and reduces oxidative stress in general. NCBI

9. Collagen peptides (symptomatic support).
   May aid wound healing in general dermatology; specific ARCI evidence is lacking. NCBI

10. Hydration and electrolytes.
    Adequate fluids help overall skin turgor and prevent heat stress in those with impaired sweating through scale. NCBI

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Immunity booster / regenerative / stem-cell drugs

There are no FDA-approved “immunity booster,” regenerative, or stem-cell drugs for ARCI-1. Do not purchase or use unapproved “stem-cell” creams, injections, or devices marketed for ichthyosis. Management remains supportive skin care and, in select severe cases, retinoids under expert supervision; gene-based and cell-based approaches are experimental in research models. If interested, discuss clinical trials with your dermatologist/geneticist. NCBI+2Jidonline+2

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Procedures/surgeries (when and why)

1. Ectropion repair (eyelid tightening).
   Why: Protects the cornea if eyelids are pulled down by tight facial skin causing exposure. Procedure: Oculoplastic surgery to reposition/support the lid. Outcome: Reduces pain, tearing, and infection risk; eye lubrication still needed. firstskinfoundation.org

2. Ear canal debridement.
   Why: Packed scale can block sound. Procedure: ENT cleans the canal under magnification; may repeat periodically. Outcome: Restores hearing and lowers infection risk. JAMA Network

3. Contracture or syndactyly release (rare).
   Why: Thick, tight skin may limit finger motion or cause webbing. Procedure: Plastic surgery to release constricting bands. Outcome: Improves function and hygiene. NCBI

4. Scar/fissure revision (selected sites).
   Why: Painful, recurrent splitting areas (e.g., ankles) that resist conservative care. Procedure: Local revision with meticulous postoperative emollient care. Outcome: Reduces recurrent cracking. NCBI

5. Newborn supportive procedures.
   Why: In “collodion baby,” supportive NICU care (humidified incubator, eye/airway protection); surgery is uncommon but airway/feeding procedures may be needed in severe tightness. Outcome: Safe transition through neonatal period. NCBI

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Prevention tips

1. Daily soak-and-seal routine. NCBI

2. Avoid harsh soaps; choose gentle cleansers. NCBI

3. Keep indoor humidity ~40–50%. NCBI

4. Apply emollients within 3 minutes of bathing. NCBI

5. Rotate keratolytics (lactic acid ⇄ urea) to limit stinging. FDA Access Data+1

6. Protect eyes with regular lubricants if lids are tight. firstskinfoundation.org

7. Trim nails; manage fissures early. NCBI

8. Dress in breathable layers; avoid overheating. NCBI

9. Learn infection warning signs; treat early. NCBI

10. Create school/work care plans for moisturization breaks and heat control. NCBI

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When to see a doctor urgently

• Fever, rapidly spreading redness, pus, or severe pain (possible cellulitis). NCBI

• Eye pain, light sensitivity, vision changes, or inability to close eyelids fully. firstskinfoundation.org

• Deep fissures that do not heal, severe bleeding, or limited movement due to tight skin. NCBI

• Worsening hearing, ear pain, or ear blockage. JAMA Network

• Considering pregnancy or becoming pregnant while on retinoids (medical emergency due to teratogenic risk). FDA Access Data+1

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Foods to emphasize and to limit

Eat more (supporting barrier and wound-healing):

1. Water (regular hydration), 2) Oily fish (omega-3s), 3) Nuts/seeds, 4) Colorful fruits/veg (antioxidants), 5) Whole grains, 6) Legumes, 7) Yogurt (if tolerated), 8) Olive oil, 9) Lean protein (healing), 10) Foods rich in zinc/iron (if low). These choices support overall skin health and recovery from fissures. NCBI

Limit (to reduce irritation/inflammation for some people):

1. Very hot/spicy foods (can flush/itch), 2) Alcohol excess (dehydrates), 3) High-sugar ultra-processed items, 4) Very salty snacks (fluid shifts), 5) Fragranced/menthol lozenges on lips (irritation), 6) Strong citrus on cracked lips, 7) Deep-fried foods (pro-inflammatory), 8) Energy drinks, 9) Inadequate fluids, 10) Any food worsening reflux/itch by personal experience. (Individualize.) NCBI

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Frequently Asked Questions

1. Is ARCI-1 the same as lamellar ichthyosis?
   Many with ARCI-1 (TGM1) show lamellar-type scaling, but ARCI includes several genes and phenotypes. Genetic testing clarifies type. NCBI

2. Will my child outgrow this?
   No, ARCI is lifelong, but daily care greatly improves comfort and function. NCBI

3. Is there a cure?
   Not yet. Skin-care routines and, for severe cases, retinoids can help a lot. Gene/cell therapies are experimental in labs. Jidonline

4. Are retinoids safe?
   They can be effective but carry serious risks—especially birth defects—and need expert supervision, labs, and pregnancy prevention. FDA Access Data+1

5. Can I use lactic acid or urea lotions?
   Yes—these are common keratolytics that hydrate and loosen scale; start slowly to avoid stinging. FDA Access Data+1

6. What about salicylic acid?
   Spot-treat thick plaques only; do not use over large areas (especially children) because of toxicity risk. FDA Access Data+1

7. Will diet cure ARCI?
   No. A balanced, anti-inflammatory diet supports overall health and wound healing but does not replace skin care. NCBI

8. Why are my child’s eyelids turning out?
   Ectropion from tight facial skin is known in ARCI; use eye lubricants and see ophthalmology for protection and possible surgery. firstskinfoundation.org

9. Is hearing loss possible?
   Yes, from ear canal scale impaction; periodic ENT care helps. JAMA Network

10. Can we swim?
    Yes, but rinse and re-emollient after; chlorinated water can dry the skin. NCBI

11. How do we manage heat?
    Loose clothes, shade, hydration, and rest breaks; some with ARCI sweat less through scale and can overheat. NCBI

12. Are steroids needed?
    Only for short bursts on eczematous areas—not as routine ARCI therapy. Focus on emollients/keratolytics. NCBI

13. Will hair be affected?
    Some TGM1 variants associate with hair/scalp issues (scale, fragility, alopecia); steady scalp care helps. JAMA Network

14. Should we join a registry or support group?
    Yes—helps with education, access, and trial opportunities. firstskinfoundation.org

15. Family planning?
    Carrier testing and genetic counseling are recommended; autosomal recessive means a 25% recurrence risk each pregnancy when both parents are carriers. NCBI

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: October 06, 2025.

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