Cutis laxa is a rare connective tissue disorder characterized by loose, inelastic skin that hangs in folds and may be associated with systemic complications. While cutis laxa is the universally accepted clinical term, it is occasionally referred to as dermatochalasis or generalized elastolysis in older medical literature. Why does Cutis laxa have multiple names? The naming of cutis laxa has evolved alongside our understanding of its genetic heterogeneity. Historically, the condition was described based on physical presentation, leading to terms like "generalized elastolysis." As clinical genetics advanced, the term cutis laxa was retained as the primary diagnostic label to encompass a spectrum of conditions caused by mutations in genes such as ELN, FBLN5, and ATP6V0A2. Reclassification often occurs when new genetic subtypes are identified, which is why you may see variations in medical records depending on the specific inheritance pattern or protein deficiency involved. What are the common synonyms and classification codes for Cutis laxa? In modern clinical practice, cutis laxa is the standardized term used by international medical organizations. To ensure accuracy during research or when communicating with healthcare providers, it is helpful to recognize the following identifiers: Common Synonyms: Generalized elastolysis, dermatochalasis (though this often refers to localized skin aging), and pachydermatocele. OMIM Identifiers: The Online Mendelian Inheritance in Man (OMIM) database lists various forms, such as Autosomal Dominant Cutis Laxa (ADCL) and Autosomal Recessive Cutis Laxa (ARCL). Orphanet Code: ORPHA:208, which serves as the primary reference for rare disease classification in Europe. ICD-10/11: Classified under Q82.8 (Other specified congenital malformations of skin). How is Cutis laxa categorized by inheritance? Medical professionals prefer to categorize cutis laxa based on the mode of inheritance, as this dictates the prognosis and potential systemic involvement. The main categories include: Autosomal Dominant Cutis Laxa: Often milder, primarily affecting the skin. Autosomal Recessive Cutis Laxa: Frequently associated with severe pulmonary emphysema, cardiovascular issues, and developmental delays. X-linked Cutis Laxa: Also known as Occipital Horn Syndrome, a variant of Menkes disease. Next steps Consult a clinical geneticist to determine the specific genetic subtype of your cutis laxa diagnosis. Join the DiseaseMaps.org community to connect with other families navigating this rare condition. Request a referral to a cardiologist and pulmonologist to monitor for systemic manifestations common in certain types of cutis laxa. Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition. References NIH Genetic and Rare Diseases Information Center (GARD): Cutis laxa. Orphanet: Rare disease database, ORPHA:208. OMIM (Online Mendelian Inheritance in Man): Clinical synopsis for Cutis laxa.

Short answer · Medically reviewed summary · Last updated: 2026-05-08

Cutis laxa is a rare connective tissue disorder characterized by loose, inelastic skin that hangs in folds and may be associated with systemic complications. While cutis laxa is the universally accepted clinical term, it is occasionally referred to as dermatochalasis or generalized elastolysis in older medical literature. Why does Cutis laxa have multiple names? The naming of cutis laxa has evolved alongside our understanding of its genetic heterogeneity.

Cutis Laxa synonyms

Name: Cutis Laxa synonyms
Creator: DiseaseMaps Editorial Team
Published: 2016-07-23UTC17:58:26.0000000

Other names for Cutis Laxa: synonyms, acronyms and related terms used by doctors and patients.

Cutis laxa is a rare connective tissue disorder characterized by loose, inelastic skin that hangs in folds and may be associated with systemic complications. While cutis laxa is the universally accepted clinical term, it is occasionally referred to as dermatochalasis or generalized elastolysis in older medical literature.

Why does Cutis laxa have multiple names?

The naming of cutis laxa has evolved alongside our understanding of its genetic heterogeneity. Historically, the condition was described based on physical presentation, leading to terms like "generalized elastolysis." As clinical genetics advanced, the term cutis laxa was retained as the primary diagnostic label to encompass a spectrum of conditions caused by mutations in genes such as ELN, FBLN5, and ATP6V0A2. Reclassification often occurs when new genetic subtypes are identified, which is why you may see variations in medical records depending on the specific inheritance pattern or protein deficiency involved.

What are the common synonyms and classification codes for Cutis laxa?

In modern clinical practice, cutis laxa is the standardized term used by international medical organizations. To ensure accuracy during research or when communicating with healthcare providers, it is helpful to recognize the following identifiers:

Common Synonyms: Generalized elastolysis, dermatochalasis (though this often refers to localized skin aging), and pachydermatocele.

OMIM Identifiers: The Online Mendelian Inheritance in Man (OMIM) database lists various forms, such as Autosomal Dominant Cutis Laxa (ADCL) and Autosomal Recessive Cutis Laxa (ARCL).

Orphanet Code: ORPHA:208, which serves as the primary reference for rare disease classification in Europe.

ICD-10/11: Classified under Q82.8 (Other specified congenital malformations of skin).

How is Cutis laxa categorized by inheritance?

Medical professionals prefer to categorize cutis laxa based on the mode of inheritance, as this dictates the prognosis and potential systemic involvement. The main categories include:

Autosomal Dominant Cutis Laxa: Often milder, primarily affecting the skin.

Autosomal Recessive Cutis Laxa: Frequently associated with severe pulmonary emphysema, cardiovascular issues, and developmental delays.

X-linked Cutis Laxa: Also known as Occipital Horn Syndrome, a variant of Menkes disease.

Next steps

Consult a clinical geneticist to determine the specific genetic subtype of your cutis laxa diagnosis.

Join the DiseaseMaps.org community to connect with other families navigating this rare condition.

Request a referral to a cardiologist and pulmonologist to monitor for systemic manifestations common in certain types of cutis laxa.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.