Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. [jamanetwork.com]

The specific symptoms present, severity and prognosis can vary greatly depending upon the specific type of cutis laxa and the presence and extent of associated symptoms. [rarediseases.org]

The inherited form of CL presents in the early months of life while acquired forms are associated with a late onset presentation, generally in adulthood. [ojrd.biomedcentral.com]

It is well accepted that Costello syndrome (CS; MIM 218040) can present with CL, however, skin manifestations in other RAS-MAPK-associated syndromes are more variable. [nature.com]

The autosomal dominant form of cutis laxa has a benign course; primarily, skin involvement is present, with few, if any systemic complications, and a normal life expectancy. [emedicine.medscape.com]

• Inguinal Hernia

  Management: Treatment of manifestations: Symptomatic treatment of pulmonary emphysema; antibiotics for urinary tract infections; routine repair of inguinal hernias; repeat plastic surgery of the face and trunk as needed. [pubmed.ncbi.nlm.nih.gov]

  The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands. [karger.com]

  Inguinal hernia has also been reported. Gastrointestinal abnormalities are uncommon with this form of cutis laxa. [rarediseases.org]

  Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3). [mybiosource.com]

  Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. [genome.cse.ucsc.edu]

• Vomiting

  ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev. 2016 Aug. 38 (7):678-84. [QxMD MEDLINE Link]. Vajdi T, Lee WW, Paravar T. [emedicine.medscape.com]

• Muscle Hypotonia

  Patients have suggestive facial features with hanging eyelids, down-slanting palpebral fissures, muscle hypotonia, epilepsy and mild-to-moderate developmental delay.2, 12, 14 The combination of the biochemical marker of abnormal protein glycosylation [nature.com]

  Developmental delay is observed in the majority of patients (mainly due to muscle hypotonia and joint laxity) but brain anomalies are rare. [link.springer.com]

• Hyperlaxity

  Deficiency of P5CS was first described in two Algerian siblings with progressive neurodegeneration, joint laxity, skin hyperlaxity and bilateral subcapsular cataracts. [link.springer.com]

• Prolapse

  Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. [genome.cse.ucsc.edu]

  Other manifestations occasionally include pulmonary artery stenosis, emphysema, bronchiectasis, hernia, and genital prolapse.1 This subtype is ascribed to mutations in the elastin gene.2 The second group (also called Ehlers-Danlos type IX syndrome or [jmg.bmj.com]

  Surgical correction of redundant skin folds, prolapses, or hernias may be undertaken. However, surgery often produces only temporary benefit. [emedicine.medscape.com]

• Retinal Pigmentation

  In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. [mybiosource.com]

• Urticaria

  Cutis laxa may be preceded by an inflammatory rash, such as urticaria, [1] or it may develop spontaneously. [emedicine.medscape.com]

• Skin Lesion

  Type 2 usually develops following acute inflammatory skin lesions, in which the areas affected by the skin lesions develop cutis laxa skin symptoms. [rarediseases.org]

• Large Fontanel

  Severe hypotonia, increased joint laxity, broad hands and feet, wide anterior fontanelle, and cutis laxa were noted in the neonatal period. Left hip dislocation and ulnar deviation of hands were also noted. [jmg.bmj.com]

• Atelectasis

  Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. [mybiosource.com]

  Affected individuals may develop severe breathing difficulties (respiratory distress) associated with cystic changes in the lungs as well as collapse of part of the lung (atelectasis). [rarediseases.org]

Management: Treatment of manifestations: Symptomatic treatment of pulmonary emphysema; antibiotics for urinary tract infections; routine repair of inguinal hernias; repeat plastic surgery of the face and trunk as needed. [pubmed.ncbi.nlm.nih.gov]

Unfortunately, treatment options are very limited and mostly symptomatic. [link.springer.com]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]

Additional symptoms may eventually develop including dystonia, a group of movement disorders that vary in their symptoms, causes, progression, and treatments. [rarediseases.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

If systemic involvement is present, as is the case mainly in the autosomal recessive forms, the extent of pulmonary or vascular involvement often determines the prognosis (in adulthood: pulmonary emphysema; vascular complications). [altmeyers.org]

Type I AR CL is characterised by early infantile pulmonary emphysema, hernias, multiple diverticulae, and a poor prognosis.5 Recently, fibulin 5 mutations have been reported in Turkish patients with CL AR type I and supravalvular aortic stenosis.6 Type [jmg.bmj.com]

Although P5CS and PYCR1 defects are located in the same pathway, patients with PYCR1 mutations are less severely affected and have a better prognosis due to the absence of neurological involvement. [link.springer.com]

Prognosis The lifespan of some patients with cutis laxa (elastolysis) may not be significantly decreased. Patients with the autosomal dominant form have a normal life expectancy. [emedicine.medscape.com]

You might also be interested in Dermatology Occurrence/Epidemiology This section has been translated automatically. Overall, the hereditary Cutis laxa is very rare. Autosomal-recessive inherited forms are more common than autosomal dominant forms. [altmeyers.org]

Epidemiology Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

Pathophysiology The main structural skin anomalies in CL are a lack, fragmentation, and/or disorganization of elastic fibers that, depending on the genetic defect, can involve other tissues. [accesspediatrics.mhmedical.com]

Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. Nat Rev Mol Cell Biol. 2007;8:917–29. - PubMed Guerra D, Fornieri C, Bacchelli B, Lugli L, Balli F, Ferrari P. The de Barsy syndrome. [pubmed.ncbi.nlm.nih.gov]

Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology. Clin Genet. 2021;99(1):53–66. Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw M, Robertson SP. [karger.com]

Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. Nat Rev Mol Cell Biol. 2007;8:917–29. [PubMed: 17912264] Guerra D, Fornieri C, Bacchelli B, Lugli L, Balli F, Ferrari P. The de Barsy syndrome. J Cutan Pathol. 2004;31:616–24. [ncbi.nlm.nih.gov]

Prevention of secondary complications: Attention to respiratory function prior to surgery; prophylactic antibiotics as needed for vesicoureteral reflux; immunizations against respiratory viruses. [pubmed.ncbi.nlm.nih.gov]

In addition, some subtypes of cutis laxa have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. [rarediseases.org]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]