Autosomal Dominant Lamellar Ichthyosis (ADLI)

Why does ADLI happen?
Other names
Types
Causes
Symptoms and signs
Diagnostic tests
Non-pharmacological treatments
Drug treatments
Drugs
Dietary molecular supplement options
Immunity booster / regenerative / stem-cell drugs
Surgeries (when and why)
Prevention tips
When to see a doctor urgently
What to eat / what to avoid
Frequently asked questions (FAQs)

Autosomal dominant lamellar ichthyosis (ADLI) is a rare inherited skin disorder. It causes large, plate-like scales on much of the body from birth or early infancy. The pattern is “autosomal dominant,” which means a child can be affected if they inherit one changed copy of the gene from either parent. Unlike the more common lamellar ichthyosis that is recessive, ADLI is dominantly inherited. Many people also have thick skin on the palms and soles (palmoplantar keratoderma). Sweating can be reduced in thickened areas, and mild redness or itch can occur. MalaCards+1

Autosomal dominant lamellar ichthyosis (ADLI) is a very rare inherited skin condition where thick, plate-like scales form over most of the body from birth or early life. “Autosomal dominant” means a single changed gene from one parent can cause the disorder in a child. Many lamellar ichthyosis cases are autosomal recessive, but a dominant form exists and has now been linked to changes in the ASPRV1 gene, which affects how the skin’s outer layer matures and sheds. People with ADLI often have dark, adherent scales, dry skin, heat intolerance, eye irritation from eyelid turning-out (ectropion), and thickening on palms and soles. Daily care focuses on softening and removing scale, protecting the skin barrier, and preventing eye and overheating problems. Systemic retinoids (vitamin-A–like medicines) can thin the scale in selected patients under specialist care, though they’re off-label for ichthyosis. OUP Academic+3PubMed+3PMC+3

Why does ADLI happen?

In healthy skin, cells in the upper layers change shape, produce barrier proteins (like filaggrin), and shed in a controlled way. In ADLI, mutations—most recently shown in ASPRV1—disrupt this maturation and shedding process. The result is thickened stratum corneum (outer skin), tight adherence of scales, and a weaker barrier that loses water easily and cracks, letting irritants in. That weaker barrier also makes it hard to sweat normally, so patients can overheat. Eyes may be affected because tight facial skin pulls the lower eyelids down (ectropion), leading to dryness and exposure. Cell+2Genome.jp+2

Scientists first described families with dominantly inherited lamellar ichthyosis in 1984. Since then, genetic studies have confirmed that some families have pathogenic changes in ASPRV1, a skin enzyme that helps process filaggrin, a key protein for the skin barrier. In 2024, researchers also reported a second gene, NKPD1, in a large family with ADLI. These findings explain why the condition looks like lamellar ichthyosis but runs in families as a dominant trait. PubMed+3PubMed+3PMC+3

Other names

Doctors may use a few different labels for the same condition. You might see: “Autosomal Dominant Lamellar Ichthyosis,” “ADLI,” “dominant lamellar ichthyosis,” or “ichthyosis, lamellar, autosomal dominant.” Older articles sometimes grouped ADLI under “autosomal dominant congenital ichthyosis,” but the newer genetic papers use ADLI to be precise. MalaCards+1

Types

Experts now recognize at least two genetic subtypes, plus families not yet linked to a known gene.

ASPRV1-related ADLI. Changes in ASPRV1 (also called SASPase) disturb filaggrin processing and the formation of the outer skin layer. People often have lamellar scaling and palmoplantar keratoderma. PMC+2Cell+2
NKPD1-related ADLI. A 2024 study described a multigenerational family with a missense variant in NKPD1 and generalized lamellar ichthyosis. This broadened the genetics of ADLI beyond ASPRV1. PubMed+2inrepo02.dkfz.de+2
Unassigned dominant families. Some older reports showed clear dominant inheritance with typical lamellar scaling, but the gene was not known at the time. Modern sequencing can help solve these cases. PubMed

Causes

ASPRV1 pathogenic variants. These change a skin enzyme (SASPase) needed to process filaggrin, weakening the skin barrier and causing plate-like scale. PMC+1
Dominant-negative ASPRV1 effects. A faulty protein can interfere with the normal one, amplifying the barrier problem even with one changed gene. PMC
Haploinsufficiency in ASPRV1 (possible). Having only one working copy may be inadequate in some variants, leading to disease. PMC
NKPD1 pathogenic variants. Newly linked to ADLI; disrupts epidermal lipid/protein homeostasis in at least one large family. PubMed+1
Altered filaggrin processing. Poor filaggrin processing impairs corneocyte maturation and natural moisturizing factors, increasing dryness and scaling. Cell
Ceramide profile imbalance. Patients can show shifts in stratum corneum ceramides and protein-bound lipids that weaken barrier integrity. PubMed
Abnormal corneodesmosome breakdown. Slow shedding of skin cells (desquamation) creates thick, adherent scale. PMC
Autosomal dominant inheritance. Passing a single mutated allele is sufficient to cause disease across generations. PubMed
De novo variants. A new mutation can arise in an affected child even if parents are unaffected. PMC
Modifier genes. Background genetic differences likely alter severity between family members. PMC
Dry climate exposure. Low humidity aggravates barrier weakness and worsens scaling. (General ichthyosis care principle.) medicaljournals.se
Hot environments. Reduced sweating through thickened skin can raise body heat and worsen discomfort. MalaCards
Harsh soaps and detergents. These strip lipids and make scaling tighter and drier. (Barrier-care principle in ichthyosis.) medicaljournals.se
Frequent friction. Rubbing increases hyperkeratosis, especially on hands and feet. MalaCards
Secondary skin infections. Cracks can let in bacteria; inflammation can thicken scale further. (Clinical ichthyosis observation.) MalaCards
Nutritional or illness stress. General illness or dehydration can worsen dryness and fissuring. (General barrier physiology.) medicaljournals.se
Poor emollient use. Inconsistent moisturizing lets scale build and stiffen. (Standard ichthyosis management insights.) medicaljournals.se
Mechanical peeling attempts. Aggressive scraping can injure skin and increase scaling rebound. medicaljournals.se
Misclassification as recessive LI. Delays appropriate genetic counseling and family risk advice. MalaCards
Under-recognition of ADLI genes. Without ASPRV1/NKPD1 testing, true cause can be missed. PMC+1

Symptoms and signs

Large, dark, plate-like scales on most of the body. This is the main feature and can start at birth or soon after. MalaCards
Palmoplantar keratoderma. Palms and soles become thick and may crack. MalaCards
Reduced sweating in thick areas. People may feel hot easily. MalaCards
Mild skin redness under the scale in some patients. MalaCards
Itching that varies from mild to moderate. MalaCards
Tight, dry skin feeling and stiffness, especially without moisturizers. medicaljournals.se
Painful cracks (fissures) on hands, feet, and flexures. medicaljournals.se
Infections in fissures (impetigo or cellulitis) can occur. MalaCards
Restricted movement when scale is very thick (for example, around joints). medicaljournals.se
Scalp scaling with dry flakes; hair is usually normal. medicaljournals.se
Facial sparing in some patients (face and chest may be less affected). MalaCards
Heat intolerance during exercise or hot weather. MalaCards
Nail thickening or brittleness in some cases due to chronic dryness. medicaljournals.se
Psychosocial stress because the condition is visible and chronic. Lippincott Journals
Family history across generations in a dominant pattern. PubMed

Diagnostic tests

A) Physical examination (bedside)

Full skin exam. The doctor maps where scale appears, how thick it is, and whether redness is present. The pattern (generalized lamellar plates) suggests ADLI when the family history is dominant. MalaCards
Palm and sole inspection. Thick keratoderma with fissures supports the diagnosis and guides treatment plans for emollients and keratolytics. MalaCards
Sweat function observation. Reduced sweating over thick plaques explains heat intolerance and guides lifestyle advice. MalaCards
Eyelid and lip check. Severe lamellar ichthyosis can show eyelid turning-out (ectropion) or lip eversion; these are less common in ADLI but must be checked to protect the eyes. MedlinePlus
Joint mobility check. Thick scale across flexures can limit motion; the exam helps tailor skin-softening regimens. medicaljournals.se
Signs of infection. Redness, warmth, crusting, and pain suggest secondary infection that may need treatment. medicaljournals.se
Family history review. A dominant pattern across generations supports ADLI and prompts targeted gene testing. PubMed
Photographic documentation. Standardized photos help track response to therapy over time. (Common dermatology practice.) medicaljournals.se

B) Manual / bedside dermatologic maneuvers

Scale adhesion assessment. Gentle lifting of a scale edge shows how tightly it adheres; firm, plate-like adherence is typical and calls for strong emollients/keratolytics. medicaljournals.se
Palm “pinch” test. Pinching the palmar skin highlights stiffness and guides emollient intensity and occlusion strategies for hands. medicaljournals.se
Dermoscopy at bedside. A handheld scope can reveal regular, thick scales and help exclude other scaling disorders (like psoriasis), supporting the clinical impression. medicaljournals.se
Nikolsky sign check. Negative in ADLI, which helps separate it from epidermolytic ichthyosis that has blistering. medicaljournals.se

C) Laboratory & pathological studies

Targeted gene testing for ASPRV1. First-line molecular test when ADLI is suspected; confirms many dominant cases. PMC+1
Next-generation sequencing panels or exome. Useful when ASPRV1 testing is negative; can detect NKPD1 variants or other rare loci. PubMed
Skin biopsy (histology). Typically shows compact orthohyperkeratosis and variable acanthosis; supports a disorder of cornification and helps exclude mimics. PubMed
Ultrastructural studies (electron microscopy) in select cases. Research reports show ultrastructural differences between ASPRV1-ADLI and other ichthyoses; not needed for routine care but clarifies mechanisms. PubMed
Lipid analysis of stratum corneum (research/advanced settings). Some ADLI cases show altered protein-bound ceramide ratios, consistent with barrier dysfunction. PubMed
Filaggrin processing assays (research). Because ASPRV1 helps process filaggrin, protein studies can show abnormal processing, supporting pathogenicity. Cell

D) Electrodiagnostic / physiologic tests (usually not required)

Sweat function testing (e.g., QSART or thermoregulatory sweat test). These quantify reduced sweating in thickened areas when heat intolerance is severe; they are optional and mainly used in specialized centers. MalaCards
Trans-epidermal water loss (TEWL) measurement. A noninvasive physiologic test to quantify barrier dysfunction; helpful in research or to monitor treatment effect. medicaljournals.se

Note: Imaging studies (like X-rays or CT scans) are not used to diagnose ADLI. Advanced skin imaging (dermoscopy or reflectance confocal microscopy) can support the clinical picture but is optional. medicaljournals.se

Non-pharmacological treatments

Each item explains what it is, purpose, and how it works (mechanism)—in easy English. Most people mix several of these every day.

Thick occlusive moisturizers (petrolatum, heavy creams) after bathing — Purpose: lock water in, soften scale, reduce cracking. Mechanism: create an oily film that slows water loss and softens the hard outer layer so scales lift more easily. PMC
Soak-and-seal routine — Purpose: quick way to hydrate then trap water. Mechanism: warm bath or shower hydrates the stratum corneum; immediate application of ointment/cream “seals” moisture in. PMC
Humidifier use at home — Purpose: reduce skin dryness and nighttime itch. Mechanism: adds moisture to room air, lowering transepidermal water loss through compromised barrier. PMC
Gentle mechanical scale removal (microfiber cloth or soft sponge) — Purpose: lift loose scale without tearing skin. Mechanism: mild friction helps desquamation when the skin is well-hydrated and lubricated. Medscape
Warm water soaks or compresses before emollients — Purpose: pre-soften thick plaques for easier removal. Mechanism: water swells corneocytes and loosens bridges between them. PMC
Temperature regulation strategies — Purpose: prevent overheating and heat exhaustion. Mechanism: cooling vests, cool showers, fans, and shade offset poor sweating through hyperkeratotic skin. Medscape
Eye surface protection (preservative-free artificial tears/ointments) — Purpose: protect from exposure due to ectropion and dryness. Mechanism: adds a tear film layer and oily shield to reduce evaporation and friction. PMC+1
Eyelid taping at night (specialist-taught) — Purpose: help close lids and keep cornea moist. Mechanism: gentle external support reduces exposure time while sleeping. EyeWiki
Scalp care (oils overnight, gentle loosening in morning) — Purpose: reduce scalp scale that can tug hair and itch. Mechanism: oils soften keratin; gentle combing removes loosened scale. PMC
Ear canal hygiene (clinician-guided) — Purpose: prevent scale plugging and hearing issues. Mechanism: periodic softening and removal under visualization avoids trauma and impaction. PMC
Nail and fissure care — Purpose: shorten nails to avoid scratching; fill and protect painful cracks. Mechanism: emollients + liquid bandage reduce mechanical stress and water loss at fissures. PMC
Barrier-friendly clothing — Purpose: reduce friction and overheating. Mechanism: soft fabrics that wick sweat and reduce rubbing limit micro-damage to brittle skin. PMC
Sun and wind protection — Purpose: prevent extra dryness and irritation. Mechanism: physical sunscreens and scarves minimize environmental stress on already weak barrier. PMC
Infection vigilance and basic wound care — Purpose: reduce cellulitis and impetigo risk through fragile, cracked skin. Mechanism: prompt cleansing, emollients, and medical review for redness, pus, or fever. PMC
Psychosocial support and patient groups — Purpose: coping skills, practical tips, and social connection. Mechanism: shared experience reduces stress and improves adherence to daily care. PMC
Genetic counseling — Purpose: explain inheritance and options. Mechanism: review family risk, testing for ASPRV1 variants, and future planning. Cell
Neonatal care (humidified incubator, gentle emollients) — Purpose: help newborns with tight skin adapt safely. Mechanism: high humidity reduces water loss; lubricants prevent cracking while the “collodion membrane” resolves. PMC
Avoid harsh soaps/fragrances — Purpose: minimize extra barrier damage. Mechanism: non-soap cleansers preserve skin lipids and proteins. PMC
Regular dermatology/ophthalmology follow-up — Purpose: catch complications early (ectropion, corneal exposure, heat issues). Mechanism: tailored adjustments to skin and eye regimens over time. Medscape
Surgical correction for severe ectropion (if needed) — Purpose: protect the eye when drops/ointments are not enough. Mechanism: skin grafts or flap procedures reposition the eyelid margin. (Details under “Surgeries.”) PMC+1

Drug treatments

Important safety note: No drug below is FDA-approved specifically for lamellar ichthyosis/ADLI. When I cite an FDA label, it’s to document the drug’s mechanism/safety and its approved uses (e.g., psoriasis, acne, xerosis). The ichthyosis use comes from reviews/case evidence. Always treat with a dermatologist experienced in ichthyosis.

Acitretin (oral) — Retinoid; cornerstone systemic option off-label for congenital ichthyoses. Typical dose 0.2–1 mg/kg/day; taken with food; long half-life caution in women of child-bearing potential. Purpose: thin excess scale, improve mobility, reduce ectropion risk. Mechanism: normalizes keratinocyte differentiation and turnover. Key risks: strict pregnancy prevention for ≥3 years after stopping; mucocutaneous dryness; lipid/LFT changes. Evidence: reviews identify oral retinoids, especially acitretin, as the main systemic therapy in ichthyosis; FDA label documents retinoid class effects and pregnancy contraindication. PMC+2OUP Academic+2
Isotretinoin (oral) — Retinoid; alternative to acitretin (off-label for ichthyosis). Dosing often 0.2–1 mg/kg/day cycles. Purpose/Mechanism: same retinoid effects—normalize cornification and decrease scale. Risks: iPLEDGE pregnancy program; liver/lipids; mucosal dryness. Evidence: Ichthyosis reviews describe benefit; FDA label covers safety/indications (severe nodular acne). PMC+1
Tazarotene 0.05–0.1% topical — Topical retinoid (off-label) for thick plaques or periocular scale (careful near eyes). Purpose: soften focal hyperkeratosis; may help ectropion-related tightness in selective cases. Mechanism: retinoid modulation of keratinocyte proliferation/differentiation. Risks: local irritation, photosensitivity; avoid in pregnancy. Evidence: case experience in ichthyosis (including periocular/ectropion benefit) and FDA label for psoriasis/acne mechanisms. PubMed+2FDA Access Data+2
Ammonium lactate 12% cream/lotion — Keratolytic/humectant; OTC/Rx. Purpose: soften/break scale, add moisture. Mechanism: lactic acid loosens corneocyte bonds and draws water into skin. Safety/label: indicated for xerosis and ichthyosis vulgaris; may sting on fissures/sun-sensitive. Evidence: used widely in ichthyoses for keratolysis; see FDA label. (Off-label for lamellar type.) FDA Access Data+1
Urea 20–40% creams/lotions — Keratolytic/humectant. Purpose: soften thick scale and add moisture. Mechanism: breaks hydrogen bonds in keratin, increasing water binding. Safety: higher strengths can sting; many products are marketed with DailyMed listings (some unapproved drug notices). Evidence: included in practical care reviews; DailyMed examples show labeling (regulatory status varies by product). PMC+1
Salicylic acid 3–6% topical (avoid large areas in children) — Keratolytic for focal thick plaques. Purpose: helps lift heavy scale on palms/soles. Mechanism: dissolves intercellular cement in the stratum corneum. Caution: risk of salicylate toxicity if used over large body areas; especially in young children. Evidence: keratolytic pharmacology; see Drugs.com/labels; many formulations are labeled for other keratoses/warts. Drugs.com
Glycolic acid (AHA) creams — Adjunct keratolytic. Purpose: soften and shed scale; can alternate with lactic acid. Mechanism: loosens corneocyte cohesion and smooths the outer layer. Evidence: reflected in expert care reviews (off-label). PMC
Propylene glycol (soaks/occlusion, diluted) — Keratolytic/humectant adjunct. Purpose: soften stubborn plaques (e.g., soles). Mechanism: draws water and disrupts keratin; often applied under occlusion. Evidence: discussed in practical guides (off-label). PMC
Topical retinoid adapalene (focal) — Off-label keratinization modulator. Purpose: small areas of thick scale. Mechanism: retinoid receptor binding normalizes differentiation. Evidence: class rationale; FDA labels exist for acne (not ichthyosis). PMC
Topical tazarotene for ectropion-related periocular skin (dermatology/ophthalmology supervision) — Purpose: reduce scale tightness that pulls eyelids outward. Mechanism: keratinocyte normalization; Caution: irritation risk near eyes—specialist oversight essential. Evidence: periocular case report showing improvement. PubMed
Petrolatum-based ointments (USP) — Barrier drug products under OTC monographs. Purpose: trap water, protect fissures. Mechanism: occlusion reduces water loss and friction. Evidence: standard of care in reviews. PMC
Ceramide-dominant moisturizers — Barrier-repair adjuncts (cosmetic/OTC). Purpose: replenish missing lipids to improve barrier. Mechanism: supply ceramides/cholesterol/free fatty acids. Evidence: recommended in care guidelines (off-label). PMC
Topical antibiotics for superinfection (short courses) — Purpose: treat localized impetigo/cellulitis risk in cracked areas. Mechanism: reduce bacterial load in open fissures. Evidence: standard wound/skin infection practice in ichthyosis care algorithms. PMC
Oral antibiotics (if cellulitis occurs) — Purpose: treat spreading infection. Mechanism: systemic antimicrobial therapy based on culture/site. Evidence: general dermatology care principles. PMC
Topical corticosteroids for intertrigo/eczema areas (short bursts) — Purpose: calm secondary dermatitis and itch in folds. Mechanism: anti-inflammatory; reduces cytokines causing redness and itch. Evidence: supportive practice patterns in reviews (not primary LI therapy). PMC
Antihistamines at night (sedating) — Purpose: symptom relief for sleep-disturbing itch. Mechanism: central sedation and some antipruritic effect. Evidence: supportive symptomatic aid in reviews. PMC
Lubricating ophthalmic ointments and artificial tears (preservative-free) — Purpose: protect eyes in ectropion. Mechanism: provide tear film and oily layer to reduce evaporation. Evidence: ophthalmology literature in ichthyosis. PMC
Topical calcineurin inhibitors (for eczema-like areas) — Purpose: steroid-sparing control of inflamed patches. Mechanism: reduces T-cell activation in skin. Evidence: used for comorbid eczematous dermatitis in ichthyosis patients. PMC
Short retinoid “holiday” strategies (advanced care) — Purpose: limit side effects while keeping benefits. Mechanism: intermittent dosing cycles under specialist supervision. Evidence: retinoid practice in ichthyoses. PMC
Emerging biologics (case reports; not approved for ichthyosis) — Purpose: treat itch/inflammation in select subtypes; evidence is early and mixed. Mechanism: cytokine targeting (e.g., IL-4/13 with dupilumab). Evidence: scattered case reports and 2025 interim meeting data—investigational/individualized. PMC+2Frontiers+2

Drugs

Acitretin (Soriatane) — FDA label: systemic retinoid with strict pregnancy contraindications and long post-therapy contraception (≥3 years); used off-label to thin ichthyosis scale under expert care. FDA Access Data+1
Isotretinoin (various) — FDA label indicates use for severe nodular acne and major teratogenic risk; off-label courses sometimes used for ichthyoses by specialists. FDA Access Data+1
Tazarotene (Tazorac/Avage/Arazlo) — FDA labels cover topical use for psoriasis/acne and class warnings; off-label focal use in ichthyosis (including ectropion-related tightening) has case support. PubMed+3FDA Access Data+3FDA Access Data+3
Ammonium lactate 12% (Lac-Hydrin) — FDA label indicates use for xerosis and ichthyosis vulgaris; often used off-label in lamellar types as a keratolytic/humectant. FDA Access Data+1
Urea creams 40% — Many formulations show DailyMed listings; regulatory status varies (some listings note “not found to be safe and effective”/unapproved drug). Useful as keratolytic in practice. DailyMed
Salicylic acid — Labels focus on warts or hyperkeratotic disorders; caution for systemic absorption with large-area use. Drugs.com

Reality check: A 2023–2024 clinical literature consensus still places oral retinoids as the main systemic option in congenital ichthyoses; there is no FDA-approved “ichthyosis drug” yet, and biologics remain experimental. PMC+1

Dietary molecular supplement options

These do not replace medical therapy. They aim to support barrier lipids, reduce dryness, or help general skin health. Discuss with your clinician, especially if pregnant, breastfeeding, or on retinoids.

Omega-3 fatty acids (fish oil) — Dose often 1–2 g/day EPA+DHA total. Function: anti-inflammatory lipid mediators; may reduce dryness/itch in some dermatoses. Mechanism: alters eicosanoid balance and cell membrane fluidity. Evidence in ichthyosis is limited; use is adjunctive per expert skin-care reviews. PMC
Evening primrose oil (GLA) — ~1–2 g/day GLA from oils. Function: may support epidermal lipids; mechanism via prostaglandin pathways; evidence small and mixed. PMC
Vitamin D (correct deficiency) — Dose per labs (often 800–2000 IU/day adults). Function: supports immune/skin differentiation; mechanism via VDR signaling. Limited ichthyosis-specific data; correct deficiency improves general health. PMC
Niacinamide — 500 mg/day often used in studies for barrier support. Function: improves barrier function and reduces TEWL in cosmetic studies. Mechanism: boosts ceramide synthesis. (Adjunct only.) PMC
Zinc (if deficient) — Typically 10–20 mg elemental/day. Function: supports wound healing/keratinization enzymes. Mechanism: cofactor for numerous skin enzymes. Test first to avoid overload. PMC
Biotin — Common OTC doses 1–5 mg/day. Function: cofactor in fatty-acid metabolism; limited evidence; avoid in pregnancy unless advised. PMC
L-carnitine — Varied doses 500–2000 mg/day. Function: fatty-acid transport; anecdotal skin dryness benefit; evidence sparse. PMC
Ceramide-containing oral supplements — Function: provide sphingolipid precursors; mechanism: may enhance barrier lipids; clinical effect uncertain. PMC
Probiotics (general gut-skin axis support) — Function: may modulate systemic inflammation; ichthyosis data minimal, so adjunct only. PMC
Antioxidants (vitamin C/E as diet emphasis rather than high-dose pills) — Function: protect lipids/proteins from oxidative stress; mechanism: ROS scavenging; prioritize food sources. PMC

Immunity booster / regenerative / stem-cell drugs

Short, honest update:

There are no FDA-approved “immunity-booster,” “regenerative,” or “stem-cell” drugs for lamellar ichthyosis (ADLI or ARCI). Current care relies on skin care and sometimes retinoids. Research lines include topical enzyme replacement for TGM1-deficient lamellar ichthyosis (ARCI) and broader gene therapy strategies—but these remain experimental. Below are the concepts you’ll hear about, with what evidence exists:

Recombinant transglutaminase-1 (topical enzyme replacement) — Experimental. In humanized mouse/skin-graft models of TGM1-deficient LI, liposomal rhTG1 restored enzyme activity and barrier structure; not yet an approved human treatment. PMC+1
Topical gene therapy / viral vectors for ARCI (preclinical) — Experimental. Early work explores vectors to deliver missing genes (e.g., TGM1) to keratinocytes; still preclinical. PMC
Protein replacement creams (concept) — Experimental. Idea of a cream carrying the missing enzyme into skin; project updates have been intermittent; not approved. Ichthyosis Support Group
Biologics (e.g., dupilumab) for symptom control in select ichthyoses — Off-label, investigational. Case reports show itch/erythema benefits in some congenital ichthyoses, especially with atopic features; not disease-modifying for LI. PMC+2Frontiers+2
Other cytokine inhibitors (e.g., anti-IL-17) — Experimental. Isolated reports in epidermolytic ichthyosis; not standard and not LI-specific. Frontiers
Stem-cell–based skin replacement — Experimental. Tissue-engineered skin approaches exist in research; no approved stem-cell drug for LI. BioMed Central

Surgeries (when and why)

Eyelid skin-graft surgery for ectropion — Procedure: release tight lower lid skin and place a full-thickness or split-thickness graft to allow lid to close and protect the cornea. Why: when lubricants/ointments fail and the cornea risks scarring/ulcer. PMC+2PMC+2
Local flap procedures for eyelids — Procedure: rearrange nearby skin (triangular/advancement flaps) sometimes combined with grafts. Why: tailor fit to lid anatomy or when graft alone is not ideal. JAAD
Repeat revisions (as a child grows) — Procedure: planned staged or repeat releases. Why: skin tightness can recur as facial structure changes. PMC
Cicatricial band/fissure releases in hands/feet (selected cases) — Procedure: release tight bands; cover with graft. Why: improve function and reduce painful fissures. PMC
Temporary non-surgical fillers for mild eyelid retraction — Procedure: hyaluronic acid filler in eyelid retractor areas. Why: trial relief in selected cases unwilling or unfit for surgery. OUP Academic

Prevention tips

Daily soak-and-seal after bathing to keep barrier hydrated. PMC
Use thick occlusive ointments at night on hands/feet to prevent fissures. PMC
Avoid harsh soaps; choose gentle, fragrance-free cleansers. PMC
Keep rooms humidified, especially during dry seasons. PMC
Wear soft, breathable fabrics to limit friction/overheating. PMC
Build a heat-safety plan (cooling breaks, shade, fluids). Medscape
Protect eyes with regular lubricants and early ophthalmology reviews. PMC
Treat early signs of infection (redness, warmth, pus) promptly. PMC
Keep nails short and smooth to reduce skin injury from scratching. PMC
Schedule regular dermatology follow-up to adapt the plan as needs change. PMC

When to see a doctor urgently

Eye pain, light sensitivity, sudden tearing, or vision changes (possible corneal exposure/ulcer). EyeWiki
Fever with rapidly spreading redness or pus (possible cellulitis). PMC
Heat exhaustion signs (dizziness, headache, nausea, fainting) in hot weather. Medscape
Deep, bleeding fissures you can’t control at home or severe pain limiting walking/hand use. PMC
If pregnant or planning pregnancy while on retinoids (or within 3 years after acitretin). FDA Access Data

What to eat / what to avoid

Eat: a balanced diet with adequate healthy fats (fish, nuts, olive oil), colorful fruits/vegetables (antioxidants), sufficient protein for skin repair, and hydration (water) to support overall skin function. These choices support the skin barrier indirectly. PMC
Avoid/limit: very drying environments (consider indoor humidity), excessive alcohol (dehydrates), spicy foods if they trigger flushing/heat discomfort, and harsh topical “peels” at home that can over-strip the barrier. Supplements are optional; focus on whole foods first. PMC

Frequently asked questions (FAQs)

Is ADLI the same as “lamellar ichthyosis”?
No. Most “lamellar ichthyosis” is autosomal recessive; ADLI is a dominant form. Both look similar clinically, but genetics differ. Orpha+1
Which gene is linked to ADLI?
ASPRV1 is currently the key gene associated with dominantly inherited lamellar ichthyosis. Cell
Is there a cure right now?
No cure yet. Daily skin care and (sometimes) retinoids manage symptoms. Research in topical enzyme replacement and gene therapy is ongoing. BioMed Central+1
Are oral retinoids approved for ichthyosis?
No—off-label. But they are the most studied systemic option for congenital ichthyoses under expert supervision. PMC+1
How do retinoids help?
They normalize how skin cells grow and shed, thinning the thick scale and improving movement/comfort. PMC
What are the biggest retinoid risks?
Pregnancy risks (strict avoidance and contraception), dry lips/eyes, liver/lipid changes; regular blood tests are needed. FDA Access Data+1
Can eye problems be prevented without surgery?
Often, yes—with frequent lubricants/ointments, lid hygiene, and early specialist care. Surgery is for persistent, vision-threatening exposure. PMC+1
Do moisturizers really make a big difference?
Yes. Thick ointments after bathing are the backbone of care and reduce fissures, itch, and infection risk. PMC
Are lactic acid/ammonium lactate and urea safe for daily use?
Generally yes, though stinging can occur on cracks or after shaving; start low and increase as tolerated. Labels exist for xerosis/ichthyosis vulgaris (off-label for lamellar). FDA Access Data+1
Is salicylic acid okay for children?
Use carefully and only on small areas—risk of salicylate toxicity with large-area/high-strength use. Drugs.com
Could biologic drugs (like dupilumab) help?
Only case-level evidence so far; sometimes helpful for itch/inflammation in select congenital ichthyoses, but not approved for LI. PMC+1
What about “stem-cell” creams or regenerative drugs online?
These are not approved LI treatments. Regenerative approaches are still experimental in research labs. BioMed Central
Will my child “outgrow” ADLI?
Skin remains dry and scaly lifelong, but good routines make daily life much easier; some symptoms improve with age. Regular follow-up helps adapt care. PMC
How do I handle hot weather?
Plan cooling breaks, use fans/cooling vests, hydrate, and avoid midday heat to prevent overheating. Medscape
Should our family get genetic counseling?
Yes. It explains inheritance, testing options, and future planning. Cell

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.