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Cutis laxa in Child
Other Resources UpToDate PubMed

Cutis laxa in Child

Contributors: Vivian Wong MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed


Cutis laxa refers to a group of conditions resulting from sparse and fragmented elastic fibers in multiple organs. The skin is often involved and has a loose, drooping, sagging appearance. There are autosomal dominant (AD), autosomal recessive (AR), and X-linked forms of the disease. Less commonly, the condition may be acquired.

The AR forms are typically evident at birth and may be accompanied by early-onset emphysema:
  • AR form, type 1 (1A-fibulin 5, 1B-fibulin 4, 1C-latent transforming growth factor [TGF] beta binding protein-4 gene mutations) – Characteristic skin findings beginning at birth. Systemic involvement is more severe, resulting in high mortality in early childhood.
  • AR form, type 2 – Type 2A (wrinkled skin syndrome) is associated with defective N- and O-glycosylation. There is a strong female predominance. It is associated with severe neurological manifestations including pachygyria, microcephaly, seizures, and Dandy-Walker malformation. Type 2B presents with wrinkled inelastic skin, notably on the dorsal acral surfaces and abdomen, along with musculoskeletal and neurological abnormalities. Patients display facial dysmorphism, with triangular facies and progeroid appearance.
  • AR, type 3 (De Barsy syndrome / progeroid syndrome of De Barsy / cutis laxa-corneal clouding-intellectual disability syndrome) – Associated with bilateral corneal opacification, progeroid appearance, decreased subcutaneous fat, and athetoid movements beginning early in life.  
The X-linked form (occipital horn syndrome) / Menkes disease is considered a milder form of Ehlers-Danlos syndrome type 4, (and is allelic to it, sharing mutations in ATPase copper transporting alpha [ATP7A]). It presents with occipital exostoses, easy bruising, and neurological abnormalities with mortality by age 4. Patients present with wrinkled, elastic skin with droopy facies at birth. Pili torti is another common feature along with urinary tract and skeletal abnormalities.

The AD form, the mildest with the fewest internal manifestations, is more likely to develop in later life, and patients have a normal lifespan.

Inherited syndromes with cutis laxa include:
  • Macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome – Notable for macrocephaly, facial dysmorphism, gingival hypertrophy, dental abnormalities, sparse hair, high-pitched voice, and musculoskeletal abnormalities. Ocular, neurologic, and respiratory symptoms are absent.
  • Arterial tortuosity syndrome – AR disorder due to SLC2A10 mutation. There is variable skin laxity, cleft palate, hypertelorism, bifid uvula. Arterial anomalies result in early death.
Acquired cutis laxa may occur in association with a medication or with another condition. Cutaneous findings classically begin on the face and spread caudally. Acral predilection may be observed in some cases. Extracutaneous manifestations are possible. The condition is typically seen in adults.
  • Medication-induced cutis laxa causes acquired Type 1 cutis laxa, sometimes with generalized elastolysis. Reported onset is within weeks to months of starting the medication. It has been associated with the use of penicillin, isoniazid, and selective serotonin reuptake inhibitors. Neonatal cutis laxa can occur in newborns of mothers treated with penicillamine (or, less frequently, penicillin or isoniazid).
  • Cutis laxa may be associated with urticaria or angioedema, malignancies (eg, multiple myeloma, lymphoma), congenital hemolytic anemia, an arthropod bite reaction, extensive inflammatory skin disease (eg, atopic dermatitis, erythema multiforme, dermatitis herpetiformis, sarcoidosis, Sweet syndrome, interstitial granulomatous dermatitis), infections (eg, Toxocara canis, Borrelia burgdorferi, Treponema pallidum, Onchocerca volvulus), connective tissue diseases (eg, rheumatoid arthritis, systemic lupus erythematosus, lupus panniculitis), celiac disease, nephritic syndrome, alpha-1-antitrypsin deficiency, mastocytosis, and amyloidosis.
  • Marshall syndrome – A form of acquired cutis laxa seen primarily in infants and young children following the onset of Sweet syndrome-like neutrophilic dermatosis.


Q82.8 – Other specified congenital malformations of skin

58588007 – Cutis laxa

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Last Updated:11/09/2023
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Cutis laxa in Child
A medical illustration showing key findings of Cutis laxa : Head/neck, Redundant skin, Symmetric extremities distribution
Clinical image of Cutis laxa - imageId=2252022. Click to open in gallery.  caption: 'Folds of skin over the thighs and knees.'
Folds of skin over the thighs and knees.
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