Cutis Laxa · What It Is, Causes, Signs and Symptoms, Diagnosis, and More

Cutis laxa, which translates to ‘loose skin’ in Latin, is a rare group of connective tissue disorders characterized by excessively wrinkled and loose skin. The skin in cutis laxa is inelastic and hangs in loose folds in various parts of the body (e.g., armpits, neck), appearing to be sagging and drooping, often giving an appearance of premature aging. 

Cutis laxa is thought to be caused by a combination of genetic and environmental factors. It can be caused by mutations in certain genes (e.g., ATPA7) that are responsible for the production and maintenance of proteins like elastin and fibrillin which contribute to elastic fiber networks. Mutations can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. Autosomal dominant cutis laxa occurs when one copy of a mutated gene is passed to the offspring by an affected parent. In contrast, autosomal recessive cutis laxa occurs when one copy of a mutated gene is passed onto the offspring by each parent. X-linked recessive cutis laxa typically only occurs in genetic males since they only have one X chromosome, compared to genetic females with two X chromosomes. Additionally, the condition can only be passed on by an affected mother to a genetic male offspring, since genetic males receive an X chromosome from the mother and a Y chromosome from the father.  

Environmental factors may also contribute to the development of acquired cutis laxa. Examples include a viral infection or an episode of inflammation in the skin (e.g., eczema, hives); in-utero exposure from medications taken by the pregnant patient, such as copper-chelating drugs like penicillamine, antibiotics like penicillin and isoniazid, and selective serotonin reuptake inhibitors; and certain medical conditions like multiple myeloma, lymphoma, and copper deficiency.  

Signs and symptoms of cutis laxa include widespread, flaccid skin on various parts of the body, which are most prominent in the face, neck, and groin; as well as signs of premature aging. Hereditary forms may be present at birth or develop later in childhood, whereas acquired forms often develop in adulthood. The severity and prognosis also differ based on the type and involvement of internal organs. Autosomal dominant cutis laxa is the most benign form, which presents with flaccid skin that can develop later in life and rarely presents with visceral (e.g., internal organ) involvement. The life expectancy for these individuals is the same as the general population.  

X-linked recessive cutis laxa presents with cutaneous manifestations including wrinkled, inelastic skin, and a droopy face at birth; intellectual disability; neurological abnormalities such as poor muscle tone (i.e., hypotonia), dysautonomias (i.e., difficulty regulating the body’s autonomic nervous system) and developmental delays; pulmonary lesions (e.g., emphysema, bronchiectasis); and genital prolapse.  

The autosomal recessive form is the most severe and may also cause severe neurological abnormalities, such as pachygyria or the congenital malformation of the cerebral hemisphere, microcephaly, seizures; intellectual disability; joint laxity; life-threatening pulmonary involvement (e.g., pneumothorax); and vascular involvement (e.g., abnormal dilations of vessels).  

Finally, acquired forms of cutis laxa can present either localized to a specific area or systemically (e.g., visceral organ involvement), in rare cases. Localized forms typically affect the face or extremities such as the hands and feet. In scenarios where cutis laxa occurs following acute inflammatory conditions (e.g., eczema), skin lesions may be restricted to the affected areas.