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Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596

An. Bras. Dermatol. vol.85 no.5 Rio de Janeiro Sept./Oct. 2010 



Cutis laxa - case report*



Gisele Moro do NascimentoI; Caroline Sampaio Alves NunesII; Paula Fatuch MenegottoIII; Salmo RaskinIV; Nádia de AlmeidaV

IStudent of Medicine - Pontifical Catholic University of Parana (PUC-PR) - Curitiba (PR), Brazil
IIStudent of Medicine - Pontifical Catholic University of Parana (PUC-PR) - Curitiba (PR), Brazil
IIIResident in Dermatology at Santa Casa de Misericordia de Curitiba - Curitiba (PR), Brazil
IVPh.D. in Medical Genetics; Medical Geneticist at Pequeno Principe Hospital - Curitiba (PR), Brazil
VHead of the Pediatric Dermatology Service at Pequeno Principe Hospital - Curitiba (PR), Brazil

Mailing address




Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.

Keywords: Consanguinity; Cutis laxa; Genetic counseling




Cutis laxa is a rare disorder of connective tissue. It is caused by an abnormality in elastic fibers, which are essential to the structural integrity of various tissues, including the skin. 1



Female patient, white, 33 months old, was admitted to the hospital with symptoms suggestive of bronchopneumonia. When the patient was 1-year-old, she presented dyspnea and was diagnosed with pulmonary emphysema, making the continuous use of oxygen at home necessary. Her parents first noticed that she had looser skin when she was 7 months old. She had a history of several hospital stays due to bronchiolitis, respiratory insufficiency, spontaneous pneumothorax, and cystitis. She had been previously submitted to four right and one left inguinal herniorrhaphy procedures. She had a normal psychomotor development; ponderal index in the 10 percentile and length index below the 5 percentile; consanguineous parents (second-degree cousins) and a brother who died at nine months with a similar clinical presentation. Physical examination revealed a dyspneic, cyanotic, and hoarse patient. The skin of her face was pendular with sagging folds; she showed left eye ectropion and right eye entropion (Figures 1 and 2), associated with conjunctival hyperemia and tearing. Her nose was flat and wide and the skin of her body was flaccid. Pulmonary exam revealed diffuse snores and murmurs, subcostal retractions. A genetic study of the family was conducted and a homozygous mutation in the FBLN5 gene was found, responsible for the autosomal recessive form of cutis laxa.






Cutis laxa is a rare disorder that occurs due to alterations in the elastic tissue caused by defects in its synthesis or by its destruction. It may be hereditary or acquired. 1,2 Its typical dermatologic characteristics are loose skin with folds and premature aged appearance. Loss of skin elasticity may involve the entire skin surface, but it is more evident on the face, neck, dorsum and thighs. 1 Systemic manifestations may be associated, including large vessel aneurysms, pulmonary emphysema, pulmonary artery stenosis, hernia, and diverticula in the gastrointestinal and genitourinary tracts, which determines a worse prognosis. Involvement of internal organs is more frequent in the autosomal recessive hereditary form of the disease, in which skin manifestations are often present at birth. 3 The patient showed, in addition to these skin manifestations, pulmonary emphysema and history of inguinal hernias that needed several surgical corrections.

Over the last decade, genetic research has advanced to help us understand the etiology of the hereditary form of cutis laxa. Different patterns of transmission have been identified, such as the autosomal dominant form (mutations in the elastin gene), the X-linked recessive variant (ATP7A gene, copper transporting ATPase), and type I autosomal recessive form (mutation of the FBLN5 gene, codifier of fibulin5, a protein associated with the elastic fiber). 2

Cutis laxa is diagnosed by clinical and histological (skin biopsy) examination. The latter shows reduced, irregular and fragmented elastic fibers in the reticular layer of the dermis. 4 Currently, with new discoveries, genetics has been used to confirm the diagnosis. 2,5

This case was diagnosed through clinical examination and it was molecularly confirmed by the identification of the c.850C>T mutation (exon 8 of the FBLN5 gene), causing the aminoacid that would normally be codified in the 284 position of the protein (arginine) to be replaced by stop codons. This generates an abnormality in the formation of fibulin-5 and, consequently, in the elastic fiber. This mutation, observed in homozygous form (which conforms to the fact that the parents are consanguineous), has never been described before.

Information about the genotype is important for a conclusive diagnosis, better understanding of the prognosis, and genetic counseling of the family.



1. Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller A, Leffell DJ. Heritable disorders of connective tissue with skin changes. In: Fitzpatrick's dermatology in general medicine. 7th. ed. New York: Mc Graw Hill; 2008:1308-10.         [ Links ]

2. de Schepper S, Loeys B, de Paepe A, Lambert J, Naeyaert J, Naeyaert JM. Cutis laxa of the autosomal recessive type in a consanguineous family. Eur J Dermatol. 2003;13:529-33.         [ Links ]

3. Andiran N, Sarikayalar F, Saraçlar M, Çaglar M. Autossomal recessive form of congenital cutis laxa: more than the clinical appearance. Pediatr Dermatol. 2002;19:412-4.         [ Links ]

4. Kitano Y, Nishida K, Okada N, Mimaki T, Yabuuchi H. Cutis laxa with ultrastructural abnormalities of elastic fiber. J Am Acad Dermatol. 1989;21:378-80.         [ Links ]

5. Elahi E, Kalhor R, Banihosseini SS, Torabi N, Pour-Jafari H, Houshmand M, et al. Homozygous missense mutation in fibulin-5 in an iranian autosomal recessive cutis laxa pedigree and associated haplotype. J Invest Dermatol. 2006;126:1506-9.         [ Links ]



Mailing address:
Gisele Moro do Nascimento
Rua Emiliano Perneta, 288 apto 1206
80010 050 Curitiba - PR, Brazil
Phone: +55 41 3223 7623 +55 41 9905 7744

Received on 14.08.2008.
Approved by the Advisory Board and accepted for publication on 22.09.08.
Conflict of interest: None
Financial funding: None



* Work conducted at Pequeno Principe Hospital - Curitiba (PR), Brazil.

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