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Cutis laxa, autosomal dominant

MedGen UID:
120630
Concept ID:
C0268350
Disease or Syndrome
Synonym: Cutis laxa, dominant type
SNOMED CT: Cutis laxa, autosomal dominant (111388003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: FBLN5, ALDH18A1, ELN
 
Monarch Initiative: MONDO:0019571
Orphanet: ORPHA90348

Definition

Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.  

The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin.

Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical blood vessels. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Sacs called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.

Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.

The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.

Other rare conditions, including arterial tortuosity syndrome, geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. These conditions each have a particular pattern of signs and symptoms affecting different tissues and body systems. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

Makino T, Terada Y, Mizawa M, Hirono K, Adachi Y, Aoki S, Kubo A, Shimizu T
Clin Exp Dermatol 2022 Oct;47(10):1895-1897. Epub 2022 Aug 24 doi: 10.1111/ced.15303. PMID: 36002914
Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV
BMC Dermatol 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6. PMID: 30704477Free PMC Article

Diagnosis

Krarup NT, Hvidbjerg M, Zaremba T, Sommerlund M, Christensen MK
Am J Med Genet A 2023 Apr;191(4):1059-1064. Epub 2022 Dec 21 doi: 10.1002/ajmg.a.63095. PMID: 36541930
Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV
BMC Dermatol 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6. PMID: 30704477Free PMC Article
Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium, Boycott KM, Nikkel SM, Dyment DA
J Hum Genet 2017 Jun;62(6):661-663. Epub 2017 Feb 23 doi: 10.1038/jhg.2017.18. PMID: 28228640
Damkier A, Brandrup F, Starklint H
Clin Genet 1991 May;39(5):321-9. doi: 10.1111/j.1399-0004.1991.tb03038.x. PMID: 1907230

Therapy

Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839

Clinical prediction guides

Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839

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