Cutis laxa: loose skin, inheritance, organ involvement and care

The name is Latin for loose skin. MedlinePlus Genetics describes cutis laxa as a disorder of connective tissue, the tissue that provides structure and strength to muscles, joints, organs and skin, characterised by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance, which can be particularly noticeable on the neck and in the armpits and groin.

The PCDS describes the loose skin as most prominent around the eyes, face, neck, shoulders and thighs, with a bloodhound appearance on the face and neck, and says people can look much older than their years. The skin has reduced elastic recoil when stretched, which separates it from hyperextensible skin conditions in which skin stretches and snaps back.

Connective tissue includes elastic fibres, which are bundles of proteins that give strength and flexibility. MedlinePlus Genetics says that elastic fibres allow the skin to stretch, the lungs to expand and contract and arteries to handle blood flowing through them at high pressure, and that variants in genes involved in their formation disrupt the formation, assembly or function of elastic fibres. That explains why a condition named for the skin can affect internal organs.

The PCDS and MedlinePlus Genetics both describe several forms, distinguished largely by inheritance. The table summarises how they are described.

Beyond the skin, the effects depend on the form. Contact says cutis laxa can affect connective tissue in the heart, blood vessels, joints, intestines and lungs, and that some children develop a lung disease called emphysema. MedlinePlus Genetics adds that the disorder can cause heart problems and abnormal narrowing, bulging or tearing of critical blood vessels, and that affected people may have hernias in the lower abdomen or around the belly button, and sacs called diverticula in the walls of organs such as the bladder and intestines.

The autosomal recessive forms can also include delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities, according to MedlinePlus Genetics. Depending on the organs affected, the signs and symptoms range from mild to life-threatening, so the individual picture matters more than the label.

Contact says cutis laxa can be caused by changes in one of many genes, including ATP6V0A2, ATP7A, EFEMP2, ELN or FBLN5. MedlinePlus Genetics says autosomal dominant cutis laxa, the most common form in its description, is primarily caused by variants in the ELN gene, which provides instructions for elastin, the major component of elastic fibres. Autosomal recessive forms can be caused by variants in FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1 or ALDH18A1, and the X-linked form is caused by variants in ATP7A, which regulates copper levels.

The PCDS gives a different statement on which inherited form is most common, saying autosomal recessive is the most common and also the most severe, so descriptions vary between sources. What is consistent is that recessive forms tend to be more severe. MedlinePlus Genetics says acquired cutis laxa appears later in life and is related to destruction of normal elastic fibres, and that it may follow an infection or an episode of skin inflammation such as eczema or hives, or occur as a side effect of treatment with certain medicines. It reports that about 20 percent of cases are acquired.

Contact says diagnosis of cutis laxa can be made by skin biopsy, which is examination of a small piece of skin tissue, and pulmonary (lung) tests. In practice a dermatologist or paediatrician recognises the clinical picture, and genetic testing may be used to identify the form. Because the condition can involve the heart, lungs and blood vessels, people with a confirmed or suspected inherited form usually have assessments of those systems, which a specialist team will coordinate.

Contact says affected families should be referred to a genetics centre for information and support. A genetics service can explain the inheritance pattern in your family and what it means for relatives and for future pregnancies.

The PCDS says that although there is no specific treatment for cutis laxa or for preventing progression, people with acquired cutis laxa and inherited autosomal dominant cutis laxa usually have a normal life expectancy. Treatment is directed at managing any complications that arise from internal organ involvement, which may include cardiology and respiratory care, and hernia repair where needed. The PCDS adds that cosmetic surgery to reduce redundant skin folds may be performed but often produces only temporary benefit.

Because the condition affects appearance and sometimes health, psychological support matters. The PCDS includes an account from a person who made no secret that the physical and psychological impacts had been the bane of his entire life, a reminder that skin conditions can have a profound emotional effect, and it is reasonable to ask a GP for access to counselling or support.

Regular follow-up with a team that knows the condition helps catch complications early. Contact notes that there is no UK support group specifically for cutis laxa, and that a group outside the UK exists, so people may find broader rare disease or connective tissue organisations helpful. It is sensible to tell any clinician treating you about the diagnosis so that heart and lung involvement is considered.

Acquired cutis laxa that follows an inflammatory trigger or a medicine should be discussed with a dermatologist, because the underlying trigger may need to be identified and managed.

On the NHS, a GP or paediatrician refers to dermatology and clinical genetics, which coordinate input from cardiology, respiratory medicine and other specialities. Because cutis laxa is rare, care is often concentrated in specialist centres, and private consultations are generally used for second opinions or cosmetic surgery planning. Whichever route you use, ask which team is responsible for overall coordination and how often screening of the heart and lungs is planned.