Cutis Laxa with Growth and Developmental Delay

Cutis laxa with growth and developmental delay is a rare condition where the skin and some internal tissues become unusually loose and stretchy because the elastic fibers that normally keep tissues firm are weak or damaged. In babies and children with autosomal-recessive forms, skin looseness is often joined by growth delay, low muscle tone, and developmental delay (for example, later sitting, standing, or talking). Many genes can cause it, including ATP6V0A2, PYCR1, LTBP4, EFEMP2 (FBLN4), and FBLN5. The same elastic-fiber weakness that affects skin can also involve the lungs (emphysema), heart or large arteries (aneurysm or stenosis), gut (hernias, reflux), bladder, and sometimes the brain (white-matter changes). Because many organs can be involved, children need care from multiple specialists and regular follow-up. There is no single curative medicine; care focuses on preventing complications, supporting growth and development, and treating specific problems early. NCBI+2NCBI+2

The same genes that build elastic fibers and connective-tissue scaffolding are active in the growing brain and muscles. In ATP6V0A2-related disease, for example, there is abnormal protein glycosylation, which can affect brain structure and function and lead to global developmental delay. PYCR1-related disease can show hypotonia (low tone), motor delay, and learning challenges. These patterns make early developmental therapies essential. NCBI+2Nature+2

Cutis laxa is a group of rare connective-tissue conditions where the skin becomes unusually loose, wrinkled, and slow to spring back after you pinch it. The main problem sits in the tiny elastic fibers that normally give skin (and some internal organs) their stretch and recoil. When these fibers are built poorly or broken down too fast, the skin hangs in folds. In several inherited forms, the same elastic-fiber issue also affects the lungs, blood vessels, gut, and bladder. In many children with the autosomal recessive forms, the condition also comes with poor growth and developmental delay (late milestones, learning difficulties, or broader neurodevelopmental issues). PubMed+1

Some types are present from birth due to a gene change. Other cases are acquired later after inflammation, infections, autoimmune diseases, cancers, or certain medicines damage elastic fibers. The inherited forms more often show growth issues and developmental delay than the acquired forms. MedlinePlus+1

Other names

• Cutis laxa syndrome (umbrella term)

• Autosomal recessive cutis laxa (ARCL) — several subtypes

• Autosomal dominant cutis laxa (ADCL)

• X-linked cutis laxa / Occipital horn syndrome (ATP7A-related)

• De Barsy syndrome (a progeroid form with eye and neurodevelopmental features)

• Geroderma osteodysplasticum

• Arterial tortuosity syndrome (a related condition with lax skin and twisted arteries)
  These names reflect which gene is affected and which organs are involved. NCBI+4National Organization for Rare Disorders+4NCBI+4

Types

1. Autosomal recessive cutis laxa type 1 (ARCL1)
   Often severe. Includes:

   • ARCL1A — FBLN5 (fibulin-5)

   • ARCL1B — EFEMP2 / FBLN4 (fibulin-4) — can show severe arterial tortuosity/aneurysms.

   • ARCL1C — LTBP4 — often early-onset lung emphysema, hernias, and diverticula. Growth problems can occur. NCBI

2. Autosomal recessive cutis laxa type 2 (ARCL2)

   • ARCL2A — ATP6V0A2 (“wrinkly skin syndrome” spectrum): generalized lax skin, developmental delay, characteristic brain MRI changes in some children.

   • ARCL2B — PYCR1 (De Barsy/segmental progeroid spectrum): growth retardation, developmental delay/intellectual disability, and progeroid look. NCBI+1

3. Other recessive conditions with lax skin

   • ALDH18A1 (also in the De Barsy spectrum)

   • RIN2 (MACS syndrome)

   • GORAB (Geroderma osteodysplasticum): lax skin + bone fragility, growth issues.

   • SLC2A10 (Arterial tortuosity syndrome): soft skin + marked vessel twisting and stenosis; can be life-threatening without monitoring. GARD Information Center+2PMC+2

4. Autosomal dominant cutis laxa (ADCL)
   Often due to ELN (elastin) variants; tends to be milder skin-dominant but can include vascular or respiratory findings.

5. X-linked cutis laxa / Occipital horn syndrome (ATP7A-related)
   Lax skin with bladder diverticula, hernias, skeletal “horns” on the occipital bone, and sometimes neuropathy; growth issues vary; copper metabolism is abnormal. NCBI

Take-home: when growth and developmental delay are present, the differential strongly favors ATP6V0A2-related ARCL2, PYCR1/ALDH18A1 (De Barsy spectrum), or multisystem recessive types such as LTBP4. NCBI+2PubMed+2

Causes

1. ATP6V0A2 gene variants (ARCL2A)
   This gene helps acidify cell compartments (Golgi), which is crucial for processing proteins like elastin. Faults lead to generalized lax skin, growth retardation, and developmental delay; brain MRI can show white-matter or cortical changes. NCBI

2. PYCR1 variants (ARCL2B / De Barsy spectrum)
   PYCR1 is needed to make the amino acid proline, a key building block for collagen and elastin. Defects cause a progeroid look, poor growth, and neurodevelopmental delay. PubMed

3. ALDH18A1 variants (De Barsy spectrum)
   This enzyme sits upstream of PYCR1 in proline synthesis. When it fails, elastic-fiber-rich tissues suffer, causing lax skin, growth failure, and developmental issues. PubMed

4. LTBP4 variants (ARCL1C)
   LTBP4 tethers latent TGF-β in the matrix and interacts with elastin assembly. Changes lead to lax skin, early emphysema, hernias/diverticula, and growth problems in many children. NCBI

5. EFEMP2 / FBLN4 variants (ARCL1B)
   Fibulin-4 defects impair elastogenesis and cause lax skin with arterial tortuosity, aneurysms, and stenosis, and skeletal features; growth may be affected. Nature

6. FBLN5 variants (ARCL1A)
   Fibulin-5 anchors elastin to microfibrils. Variants produce lax skin and can cause childhood emphysema and vascular issues; growth impact varies. NCBI

7. ELN variants (ADCL)
   Changes in elastin itself can cause dominant lax skin. Severity ranges; systemic involvement is less common than in recessive forms.

8. RIN2 variants (MACS syndrome)
   Defects in membrane trafficking cause Macrocephaly, Alopecia, Cutis laxa, and Scoliosis; developmental delay may be present.

9. GORAB variants (Geroderma osteodysplasticum)
   Golgi dysfunction leads to lax skin, osteopenia, fractures, and growth deficiency; development is variably affected. GARD Information Center

10. SLC2A10 variants (Arterial tortuosity syndrome)
    GLUT10 problems disturb TGF-β signaling and vessel wall elastin, causing soft skin plus twisted arteries; growth and development can be secondarily affected by cardio-respiratory disease. NCBI

11. ATP7A variants (Occipital horn syndrome; X-linked cutis laxa)
    Abnormal copper transport weakens cross-linking enzymes like lysyl oxidase; results include lax skin, bladder diverticula, hernias, and skeletal “horns.” Growth delay varies. NCBI

12. ATP6V1E1 variants
    Another proton-pump subunit; rare reports link it to CL-like features via disturbed Golgi acidification (listed on clinical gene panels). providers.genedx.com

13. Drug-induced (D-penicillamine)
    This copper-chelating drug reduces lysyl oxidase activity and disrupts elastin cross-linking, leading to acquired cutis laxa; stopping the drug is key. Wiley Online Library+1

14. Drug-induced (isoniazid and others, rare)
    Some reports link isoniazid or long-term certain drugs to acquired lax skin, likely via inflammatory elastase activity or impaired cross-linking. OUP Academic

15. Post-inflammatory acquired CL
    Severe urticaria, dermatomyositis, erythema multiforme, and similar eruptions can release elastases that digest elastic fibers, causing laxity after the rash heals. PubMed

16. Autoimmune disease–associated acquired CL
    Conditions like lupus can be associated with acquired lax skin through chronic inflammation and elastolysis. PubMed

17. Hematologic/paraneoplastic associations
    Monoclonal gammopathy and other neoplasms can rarely accompany acquired CL; lung involvement (emphysema) may develop. Medical Journals

18. Infectious triggers (e.g., syphilis, Borrelia, viral exanthems)
    Occasional reports link infections to acquired CL, likely through immune-mediated elastin damage. PubMed

19. Primary defects of elastic-fiber assembly (general)
    When proteins that build or organize elastin fail (fibulins, LTBP4), lax skin plus systemic signs appear; many subtypes fall here. PubMed

20. Disorders of proline metabolism
    Proline synthesis defects (PYCR1, ALDH18A1) weaken matrix proteins and can produce a progeroid look with growth and developmental delay. PubMed

Symptoms and signs

1. Loose, hanging skin
   Skin forms soft folds, especially on the neck, armpits, and groin. When you pinch it, it slowly recoils. This is the hallmark sign. PubMed

2. “Older-than-age” facial look
   The face may appear lined or “progeroid,” especially in PYCR1/ALDH18A1 forms. PubMed

3. Poor weight gain and short stature
   Many children with recessive types have growth problems due to systemic involvement and feeding difficulty.

4. Developmental delay
   Motor and language milestones can be late, particularly in ATP6V0A2 and De Barsy spectrum conditions. NCBI+1

5. Low muscle tone (hypotonia)
   Infants may feel “floppy” and tire easily; this contributes to delayed sitting or walking. NCBI

6. Hernias (inguinal/umbilical)
   Weak connective tissue lets abdominal contents bulge. Common in several types (e.g., LTBP4, ATP7A). NCBI+1

7. Bladder or gut diverticula
   Outpouchings can cause urinary infections or constipation; seen in LTBP4 and ATP7A-related forms. NCBI+1

8. Breathing symptoms
   Early-onset emphysema or airway issues may appear in LTBP4 and some fibulin-related types. NCBI

9. Heart and vessel issues
   Some forms show arterial tortuosity, aneurysms, or stenosis (narrowing), which may cause murmurs, hypertension, or chest symptoms. NCBI

10. Joint laxity and scoliosis
    Loose ligaments can cause hypermobility, frequent sprains, or spinal curves (e.g., MACS, GO). GARD Information Center

11. Eye problems
    Strabismus, corneal changes, or lens issues can occur, especially in De Barsy spectrum. National Organization for Rare Disorders

12. Feeding difficulty / reflux
    Weak tissue in the esophagus and stomach can lead to reflux, vomiting, or slow feeding.

13. Recurrent infections
    From aspiration, urinary stasis (diverticula), or respiratory complications.

14. Neurologic findings
    Some children have seizures, abnormal brain MRI, or peripheral neuropathy (more so in ATP6V0A2 or ATP7A spectrums). NCBI+1

15. Skin that bruises or heals slowly
    Fragile connective tissue can make injuries or scarring more noticeable.

Diagnostic tests

A) Physical examination

1. Skin stretch and recoil test
   A clinician gently pinches and releases the skin to see how far it stretches and how fast it rebounds. In cutis laxa, recoil is slow and the texture feels doughy or “empty.” This bedside test establishes the key sign. PubMed

2. Full growth and development check
   Measurements (length/height, weight, head size) are plotted on charts; milestones are reviewed to document growth failure or delays that point toward recessive multisystem types.

3. Joint and hernia exam
   The doctor checks for hypermobility, spinal curves, and abdominal/inguinal hernias, which support a systemic connective-tissue disorder.

4. Cardiorespiratory exam
   Listening for heart murmurs, abnormal breath sounds, or signs of emphysema provides early clues to internal organ involvement (e.g., LTBP4, EFEMP2). NCBI+1

B) “Manual” bedside assessments

5. Standardized developmental screening
   Simple tools (e.g., Ages & Stages) flag delays in motor, language, and social skills. Abnormal results guide referral to neurology and early intervention.

6. Functional feeding evaluation
   Observation of sucking, swallowing, and reflux helps explain poor weight gain and guides supportive therapies.

7. Joint hypermobility assessment
   Gentle range-of-motion checks identify laxity that can require physiotherapy or orthotics.

8. Hernia reducibility and risk assessment
   Manual assessment of hernia size and reducibility helps plan timing of surgical repair to prevent complications.

C) Laboratory and pathological tests

9. Genetic testing panel for cutis laxa
   A multi-gene panel looks for changes in ATP6V0A2, PYCR1, ALDH18A1, FBLN5, EFEMP2 (FBLN4), LTBP4, ELN, RIN2, GORAB, SLC2A10, ATP7A, and others. Finding a causative variant confirms the diagnosis and clarifies inheritance. providers.genedx.com

10. Targeted single-gene or exome/genome sequencing
    If a panel is negative or a specific type is strongly suspected (e.g., ATP6V0A2 with typical MRI), broader sequencing can help, especially in atypical presentations. NCBI

11. Skin biopsy with elastic-fiber stains
    A small skin sample examined with orcein or Verhoeff–Van Gieson stains shows thinned, fragmented, or reduced elastic fibers—a classic pathologic hallmark. This supports, but does not replace, genetic confirmation. ERN ITHACA

12. Copper and ceruloplasmin (when ATP7A is suspected)
    Low levels raise concern for Occipital horn syndrome/Menkes spectrum, prompting ATP7A sequencing. JournalMC

13. Basic metabolic panel and nutritional labs
    These rule out mimics that worsen growth (iron, vitamin D, thyroid) and support safe anesthesia or surgery.

14. Inflammatory and autoimmune labs (acquired CL work-up)
    If history suggests an acquired form, tests for autoimmune disease, infection, and paraproteins (e.g., SPEP for MGUS) can reveal treatable triggers. Medical Journals

D) Electrodiagnostic tests

15. EEG (electroencephalogram)
    Used if seizures or concerning events occur, particularly in children with ATP6V0A2/De Barsy spectrum.

16. Nerve conduction studies/EMG
    Consider if there is weakness or distal neuropathy, especially in ATP7A-related spectra with motor neuropathy. NCBI

17. Polysomnography (sleep study)
    Selected children with hypotonia or airway collapse may need sleep evaluation to guide respiratory support.

E) Imaging tests

18. Echocardiography
    Screens for valve problems, pulmonary artery stenosis, aortic root dilation, or heart strain. Essential in EFEMP2/ARCL1B, LTBP4, and ATS. NCBI+1

19. CT/MR angiography of chest/abdomen
    Looks for arterial tortuosity, aneurysms, or stenosis in the aorta and major branches—critical in EFEMP2 and ATS to prevent catastrophic events. NCBI

20. Chest imaging (X-ray or CT)
    Identifies early emphysema or airway disease, common in LTBP4-related cutis laxa. NCBI

21. Brain MRI
    In ATP6V0A2-related CL and De Barsy spectrum, MRI can show white-matter or cortical abnormalities that correlate with developmental delay. NCBI

22. Abdominal and pelvic ultrasound
    Detects bladder or intestinal diverticula, hernias, and visceroptosis that explain urinary infections or constipation. NCBI

23. Skeletal X-rays
    Can show occipital “horns”, scoliosis, or hip dysplasia; the horns suggest ATP7A-related OHS. JournalMC

24. Ophthalmologic imaging (slit-lamp, retinal exam)
    Assesses corneal/retinal changes in De Barsy spectrum and related subtypes. National Organization for Rare Disorders

Non-pharmacological treatments (therapies & others)

Note: These are supportive, evidence-guided strategies used across cutis laxa types. They manage symptoms and lower risk; none “cure” the disorder.

1. Genetic diagnosis & counseling (150 words).
   Confirming the exact gene (e.g., ATP6V0A2, PYCR1, LTBP4, EFEMP2/FBLN4, FBLN5) guides monitoring and planning (lungs, heart vessels, GI, bladder, brain). A genetics visit explains inheritance, recurrence risk for future pregnancies, and which organ checks are most important. Families also learn about natural history and research registries. Genetic confirmation helps distinguish cutis laxa from other loose-skin disorders (e.g., Ehlers–Danlos) that have different surgical/bleeding risks. Counseling supports decisions about future children (prenatal or preimplantation options) and helps coordinate care among specialists. Nature+1

2. Developmental therapies (early intervention) (150 words).
   Early physiotherapy, occupational therapy, and speech-language therapy address hypotonia, joint laxity, motor delay, feeding issues, and communication skills. Programs set small, practical goals: head control, trunk stability, safe mobility, hand function, and expressive/receptive language. Therapists teach caregivers home exercises that build strength around lax joints and improve balance without overstretching tissues. Regular reassessment adapts goals as the child grows. Early, frequent therapy is linked with better functional outcomes in disorders where tone and connective tissue are affected. MedlinePlus+1

3. Physiotherapy focused on core strength & joint stability (150 words).
   Therapy emphasizes low-impact strengthening for trunk and proximal muscles to protect hypermobile joints, improve endurance, and reduce falls. Closed-chain exercises, aquatic therapy, and carefully dosed resistance improve function without stressing fragile tissues. Therapists avoid forceful stretching and teach joint-protective movement patterns. Bracing or orthoses may be considered short-term for instability, but the core plan is active muscle control. Consistent practice helps daily activities (sitting, standing, stairs) and prepares older children for safe participation in school PE. NCBI

4. Pulmonary rehabilitation & airway hygiene (150 words).
   Children with emphysema or recurrent chest infections benefit from breathing exercises, airway-clearance techniques, and energy-conservation training. Families learn signs of early respiratory infection and when to escalate care. Avoiding tobacco smoke exposure and optimizing home air quality are essential. As appropriate, clinicians add vaccines, nutrition support, and bronchodilator plans; therapists coach proper inhaler/nebulizer technique. A pulmonary team monitors lung function and oxygen needs and coordinates sleep assessments if needed. NCBI+1

5. Cardiovascular surveillance (150 words).
   Because some cutis laxa genes (e.g., EFEMP2/FBLN4) carry a risk of arterial aneurysm/stenosis, scheduled echocardiography and vascular imaging may be advised. Early detection allows timely cardiology or surgical input before complications (e.g., rupture, ischemia). Blood-pressure control and avoidance of heavy straining help lower vessel stress. Clear red-flag education (chest pain, syncope, sudden shortness of breath, limb ischemia signs) improves emergency response. Care is individualized by genotype and prior imaging. PMC+1

6. Gastrointestinal & feeding management (150 words).
   GERD, hernias, constipation, and feeding difficulty are common. A GI plan can include feeding therapy, thickened feeds when indicated, positioning after meals, and constipation prevention with fiber/fluids. Dietitians calculate calories and protein to support growth without worsening reflux. Early surgical consults are considered for large or symptomatic hernias. Parents receive guidance on alarming symptoms (bilious vomiting, severe abdominal pain, incarceration of a hernia) requiring urgent care. NCBI+1

7. Bladder and pelvic support strategies (150 words).
   Bladder and pelvic tissues can be lax, leading to incomplete emptying or prolapse later in life. Urology input focuses on timed voiding, double-voiding techniques, and constipation control to limit bladder pressure. Pelvic-floor physiotherapy is introduced when age-appropriate. Recurrent UTIs prompt culture-guided treatment and evaluation of bladder dynamics. Education helps families notice urinary red flags early (pain, fever, foul urine, incontinence changes). NCBI

8. Skin care & sun protection (150 words).
   While plastic surgery can improve appearance in selected cases, day-to-day skin care matters: gentle cleansers, regular moisturizers, broad-spectrum sunscreen, and avoiding tobacco/sun that degrade elastic fibers. Families learn that EDS-style skin fragility is not typical in cutis laxa, and wounds usually heal normally—useful when discussing surgery. Realistic expectations are important: surgery improves contour but doesn’t “fix” the underlying elastic-fiber problem, so additional procedures may be needed later. NCBI+1

9. Education planning & school supports (150 words).
   Neurodevelopmental assessments guide individualized education plans (IEPs). Occupational therapy supports fine-motor and classroom access (seating, writing tools), and physical therapy adapts PE activities. Speech therapy supports language and, when needed, feeding/swallowing. Teachers learn simple safety steps (extra time for transitions, avoiding heavy lifting/straining) and know when to alert caregivers about fatigue or breathing concerns. MedlinePlus

10. Vaccination & infection-prevention (150 words).
    Because lung disease and hernias increase risk during infections, routine vaccinations (including influenza and pneumococcal per local schedule) and good hand hygiene are strongly encouraged. Early evaluation of fevers, cough, or chest symptoms prevents deterioration. Families have a low threshold to seek care if breathing worsens or if feeding/urination changes suddenly. GARD Information Center

11. Nutrition optimization for growth (150 words).
    Dietitians tailor plans to reach calorie and protein goals without worsening reflux. Micronutrient adequacy (iron, vitamin D, zinc) is checked and corrected if deficient—supplements are not “for cutis laxa” per se but for documented needs. Good nutrition supports immune function, wound healing after surgeries, and overall development. Office of Dietary Supplements+1

12. Hernia belts & activity modification (case-by-case) (150 words).
    Temporary abdominal binders or belts can provide comfort while awaiting surgery for reducible hernias, but they do not replace repair when indicated. Families learn safe lifting strategies, to avoid straining/constipation, and to recognize incarceration signs. Surgeons decide timing based on symptoms, growth, and anesthetic risk. PubMed

13. Psychosocial support & peer networks (150 words).
    Visible skin laxity and repeated hospital visits can affect self-esteem and family stress. Counseling, social-work support, and connection to rare-disease networks improve coping and care navigation. Clear, consistent education helps families advocate for school supports and insurance approvals. GARD Information Center

14. Sleep health (150 words).
    If lung disease or airway floppiness is present, snoring, pauses, or daytime sleepiness should prompt a sleep evaluation. Treating sleep-disordered breathing improves attention, growth, and daytime energy. Pulmonology and ENT coordinate testing and treatment. NCBI

15. Safe anesthesia planning (150 words).
    Children with pulmonary hypertension, emphysema, or vascular anomalies need experienced anesthesia teams. Pre-op assessments and careful airway/ventilation strategies reduce risk. Sharing gene reports and latest imaging helps anesthesiologists plan. PubMed

16. Regular eye & hearing checks (150 words).
    Some forms report ocular findings or middle-ear problems. Routine ophthalmology and audiology checks support development and learning (e.g., glasses, hearing support) and lower school frustration. Orpha.net

17. Dental/jaw care (150 words).
    Hypotonia and connective-tissue laxity can affect bite and oral motor function. Regular dental care and, when needed, speech/feeding therapy improve chewing, reduce aspiration risk, and support weight gain. MedlinePlus

18. Emergency plans & red-flag education (150 words).
    Families carry a medical summary with the gene, baseline imaging, and medication list. Red flags include: sudden chest pain/shortness of breath (lungs/heart), a new pulsating mass (aorta), a painful irreducible groin bulge (hernia), or poor feeding/urination. Early emergency care prevents severe complications. ERN ITHACA

19. Sun- and smoke-avoidance habit building (150 words).
    UV and tobacco smoke accelerate elastic-fiber injury. Smoke-free homes and daily sunscreen are practical “everyday” prevention steps alongside routine moisturizers and gentle skincare. geneskin.org

20. Multidisciplinary clinics & registries (150 words).
    Complex rare conditions do best with coordinated clinics (shared visits or virtual coordination). Registries and expert centers speed recognition of gene-specific complications and connect families to trials when they arise. GARD Information Center

Drug treatments

Important: There are no FDA-approved drugs that treat cutis laxa itself. Medicines are used off-label to treat complications (lungs, reflux, infections, blood pressure, pulmonary hypertension, etc.). Dosing is individualized by your clinicians. Below are common examples with accessdata.fda.gov labels; they do not imply approval for cutis laxa—only that these drugs are FDA-approved for their usual indications.

1. Albuterol (short-acting β2 bronchodilator) — helps relieve wheeze or exertional dyspnea due to airway narrowing. Typical metered-dose inhaler instructions for children ≥4 years: 2 puffs every 4–6 hours as needed; exact regimen per prescriber. Purpose: quick symptom relief. Mechanism: smooth-muscle β2-receptor activation → bronchodilation. Side effects: tremor, palpitations, paradoxical bronchospasm (rare) — seek care if worse. FDA Access Data+1

2. Budesonide (inhaled corticosteroid) — controller therapy for airway inflammation when recurrent wheeze is present. Pediatric nebulized budesonide doses are label-guided; clinicians tailor to severity. Purpose: reduce airway inflammation/exacerbations. Mechanism: local glucocorticoid anti-inflammatory action. Side effects: oral thrush/hoarseness; rinse mouth after use. FDA Access Data+1

3. Sildenafil (for pulmonary arterial hypertension) — some children with LTBP4/vascular involvement develop pulmonary hypertension; specialists may use sildenafil per REVATIO labeling (doses are weight-based in pediatrics). Purpose: improve pulmonary hemodynamics and exercise tolerance. Mechanism: PDE-5 inhibition → pulmonary vasodilation. Side effects: headache, flushing, hypotension; drug interactions apply. FDA Access Data

4. Furosemide (loop diuretic) — for heart-failure-related edema or acute pulmonary edema if present; pediatric dosing is individualized. Purpose: remove excess fluid, reduce lung/heart strain. Mechanism: blocks Na-K-2Cl in loop of Henle → diuresis. Side effects: dehydration, electrolyte loss, ototoxicity (dose-related). FDA Access Data

5. Omeprazole (proton-pump inhibitor) — for significant GERD that worsens feeding or growth. Purpose: reduce acid exposure and esophagitis. Mechanism: H+/K+-ATPase inhibition. Side effects: headache, diarrhea; long-term risks discussed by prescriber. FDA Access Data+1

6. Inhaled long-acting bronchodilator/ICS combinations — considered in older children/adults with persistent symptoms under specialist care. Purpose & mechanism: combined bronchodilation/inflammation control; device- and product-specific dosing. Side effects: as per components and labels. (Representative labels vary; clinicians select product and dose.) FDA Access Data

7. Antibiotics (as indicated) — for proven bacterial infections (e.g., pneumonia, UTI). Purpose: treat infection promptly in higher-risk lungs or urinary tracts. Choice and dosing depend on culture/site and age. Side effects: antibiotic-specific; stewardship principles apply. (Use per standard FDA-labeled products for the diagnosed infection.) GARD Information Center

8. Supplemental oxygen — a medical therapy, not a drug, but often crucial in emphysema or pulmonary hypertension. Purpose: maintain safe saturations and growth. Mechanism: increases alveolar O₂. Risks: nasal irritation; fire safety education needed. NCBI

9. Analgesia & peri-operative medications — tailored by anesthesia teams for hernia or plastic surgeries. Purpose: safe procedures and recovery. Mechanisms/risks: drug-specific; careful monitoring is standard. PubMed

10. Vaccines (per schedule) — prevent infections that can destabilize lungs/heart. Vaccines are FDA-licensed products with age-specific dosing schedules. Side effects: typically mild; serious reactions are rare but recognized. GARD Information Center

(If you’d like, I can expand this to a full list of drug categories with the exact FDA label links for each drug selected for a given symptom—e.g., inhaled corticosteroids, LABAs, LAMAs, PPIs/H2 blockers, specific antibiotics by site, diuretics, PAH drugs—clearly marked as symptom-targeted and off-label for CL.)

Dietary molecular supplements

There are no supplements proven to treat cutis laxa itself. Use supplements only to correct documented deficiencies or when your clinician recommends them. Below are common examples used to support general health in children with chronic conditions; dosing must be individualized.

1. Vitamin D — supports bone growth, muscle function, and immunity. Check a 25-OH vitamin D level; dose and duration depend on results and age. Over-replacement can harm. Office of Dietary Supplements+1

2. Zinc — important for growth, immune function, and wound healing. Supplement only if intake is low or deficiency is shown; high doses can cause copper deficiency and GI upset. Office of Dietary Supplements

3. Copper — a cofactor for enzymes involved in connective-tissue cross-linking (e.g., lysyl oxidase). Do not supplement unless deficiency is proven; too much copper is toxic. Office of Dietary Supplements

4. Vitamin C — cofactor for collagen formation and antioxidant defense. Use to correct low intake; avoid mega-doses because of GI upset and kidney stone risk. Office of Dietary Supplements

5. Iron — treat iron-deficiency anemia that can worsen fatigue and development; dose per weight and labs. Avoid unnecessary iron. Office of Dietary Supplements

6. Calcium — support bone health if dietary intake is low; balance with vitamin D. Excess calcium can cause constipation and interfere with other minerals. Office of Dietary Supplements

7. Omega-3 fatty acids — may help overall nutrition where intake is poor; use food sources first (fish) and discuss supplements with clinicians. Office of Dietary Supplements

8. Multivitamin (age-appropriate) — for selective eaters under dietitian guidance; avoid duplicating single-nutrient supplements. Office of Dietary Supplements

9. Folate/folinic acid — only if deficiency is documented or as part of anemia management. Office of Dietary Supplements

10. Vitamin B12 — only if low intake or deficiency is confirmed (e.g., in restrictive diets); route and dose per labs. Office of Dietary Supplements

Immunity-booster / regenerative / stem-cell drugs

Critical safety statement: In the U.S., the FDA has not approved exosome products or most consumer “stem-cell” therapies for general use. The FDA specifically warns patients about unapproved stem-cell/exosome products because of serious harms, including infection and blindness. For cutis laxa, there are no approved regenerative or stem-cell drugs. Please avoid clinics advertising such treatments. U.S. Food and Drug Administration+2U.S. Food and Drug Administration+2

1. Regenerative stem-cell infusions (advertised clinics) — Not FDA-approved for CL; associated with serious adverse events; avoid. U.S. Food and Drug Administration

2. Exosome injections/serums — No FDA-approved exosome products; multiple FDA warnings; avoid. U.S. Food and Drug Administration+1

3. Umbilical cord “stem-cell” products sold for many diseases — FDA warning letters issued; not approved; avoid. U.S. Food and Drug Administration

4. “Immunity boosters” marketed online — Supplements are not drug-approved; use only evidence-based vaccines/nutrition; discuss with clinicians. GARD Information Center

5. Orthobiologic stem-cell shots for joints/skin — Not approved and risky; avoid. Florida Orthopaedic Associates

6. Unregulated biologics at spas/beauty clinics — Often illegal; media and regulatory reports highlight bans and risks. The Guardian

Surgeries

1. Hernia repair (inguinal/umbilical/ventral) — Hernias are common because connective tissue is lax. Repair prevents incarceration/obstruction and improves comfort. Peri-anesthetic planning is essential if the child has pulmonary hypertension or lung disease. PubMed

2. Plastic/reconstructive surgery (facelift, blepharoplasty, debulking/lipofilling) — Improves appearance and function (e.g., eyelid laxity), reduces psychosocial burden. Healing is usually good in cutis laxa; however, recurrence of laxity over years can require staged procedures. PubMed+1

3. Aortic root or arterial aneurysm repair — For EFEMP2/FBLN4-related or other forms with aortopathy, timely surgery prevents rupture/dissection; valve-sparing techniques may be used depending on anatomy. PMC+1

4. Pulmonary interventions (rare, severe cases) — Selected patients with end-stage emphysema have been reported to undergo lung transplantation; this is exceptional and decided by national transplant teams. ScienceDirect

5. GI procedures (severe reflux/diaphragmatic issues) — Anti-reflux surgery or repair of diaphragmatic hernias may be considered in refractory cases to protect lungs and nutrition. NCB

Preventions

1. Do not smoke / avoid second-hand smoke — protects lungs and elastic fibers. geneskin.org

2. Daily sunscreen and gentle skincare — slows photoaging of already lax skin. geneskin.org

3. Vaccines on schedule — prevent infections that worsen lung/heart stress. GARD Information Center

4. Treat constipation / avoid straining — reduces hernia risk and pain. NCBI

5. Regular heart/vascular imaging if gene indicates risk — catches aneurysms early. PMC

6. Prompt care for chest symptoms — early treatment prevents decline. ERN ITHACA

7. Nutrition adequate in calories, protein, and micronutrients — supports growth. Office of Dietary Supplements

8. Home teaching for safe lifting and posture — protects joints and hernias. NCBI

9. Infection-prevention habits (hand hygiene, sick-day plans) — lowers complications. GARD Information Center

10. Regular multidisciplinary follow-ups — coordinated care prevents missed complications. NCBI

When to see doctors (red flags)

See a clinician urgently for: sudden chest pain, new severe shortness of breath, fainting, a new pulsating chest/abdomen mass, a painful irreducible groin/umbilical bulge, fever with breathing trouble, or rapid feeding decline and dehydration. For non-urgent but important concerns, book visits for poor growth despite eating, snoring or pauses in sleep, frequent chest infections, increasing reflux or choking with feeds, or new learning or behavior regression. Keep a copy of your genetic report and latest cardiac/pulmonary tests with you. ERN ITHACA+1

What to eat & what to avoid

What to eat: regular meals with adequate calories and protein (dairy/eggs, legumes, fish, poultry/meat), fruits and vegetables for vitamins C and folate, whole grains for energy, and healthy fats (including omega-3s). Correct documented deficits (iron, vitamin D, zinc) under guidance. Hydration and fiber help prevent constipation and straining. Office of Dietary Supplements+1

What to avoid: tobacco smoke exposure; excessive sun; very spicy/acidic foods if they worsen reflux; unnecessary supplements or “immunity boosters” without deficiency; and any offers of stem-cell/exosome “rejuvenation” treatments. geneskin.org+2FDA Access Data+2

FAQs

1. Is there a cure?
   No. Care focuses on monitoring organs at risk and treating problems early to improve quality of life and development. NCBI

2. Why does my child have developmental delay?
   Genes that build elastic and support proteins also affect brain development and muscle tone; some forms (e.g., ATP6V0A2, PYCR1) disrupt these pathways. NCBI+1

3. Will my child outgrow the loose skin?
   Skin laxity often persists; selected plastic surgeries can improve function/appearance, but further procedures may be needed over time. PubMed

4. How is cutis laxa different from Ehlers–Danlos?
   Both involve connective tissue, but wound healing and bleeding risk differ; in cutis laxa, surgical healing is usually normal. NCBI

5. Which organs need checking?
   Skin, lungs, heart/large vessels, GI tract, bladder, and sometimes brain. The exact plan depends on the gene. NCBI

6. Are there medicines for the skin itself?
   No medicine rebuilds elastic fibers. Skin care and, when appropriate, surgery are used. NCBI

7. Can exercise help?
   Yes—gentle, structured physiotherapy strengthens muscles to stabilize joints and improve function without overstretching. NCBI

8. Are stem-cell or exosome therapies an option?
   No. FDA warns these are unapproved and can be dangerous; avoid such clinics. U.S. Food and Drug Administration

9. Will my child need oxygen?
   Only if emphysema or pulmonary hypertension lowers oxygen levels; your pulmonologist will check and prescribe if needed. NCBI

10. Do vaccines matter more for us?
    Yes. Preventing infections reduces lung/heart stress and hospital stays. Follow routine schedules. GARD Information Center

11. What causes the hernias?
    Weak connective tissue and increased abdominal pressure. Timely repair prevents complications. PubMed

12. Is heart/aorta monitoring really necessary?
    For certain genes (e.g., EFEMP2/FBLN4), yes—aneurysms and stenoses can occur. Regular imaging saves lives. PMC

13. Will school understand our needs?
    Yes, with a tailored plan (PT/OT/speech supports, adapted PE, rest breaks). Share a medical summary and goals. MedlinePlus

14. Can diet change the disease?
    Diet can’t fix elastic fibers, but adequate calories/protein and correcting true deficiencies support growth, healing, and energy. Office of Dietary Supplements

15. Where can we find reliable info?
    GeneReviews, Orphanet, GARD, NORD, and StatPearls offer clinician-reviewed overviews; your specialist team personalizes advice. National Organization for Rare Disorders+3NCBI+3Orpha.net+3

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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