Congenital cutis laxa with multi-system involvement

Karan Malhotra, Karjigi Siddalingappa, Kallappa C. Herakal


Cutis laxa is a heterogeneous group of inherited and acquired rare connective tissue disease characterized by loose, wrinkled, and inelastic skin. It clinically presents as loose skin with folds giving a premature aged appearance. Cutis laxa is very rare, with an estimated incidence of one in 4 million. There are many case reports on acquired cutis laxa but very few on “congenital” cutis laxa. Authors report a 15 years old female presenting with a history of recurrent respiratory tract infections since the age of 2 years associated with flaccid skin all over her body and extensive loose folds of skin over face, neck, abdomen, arms and thighs since birth. Cutis laxa has been diagnosed based on the clinical picture and histopathological appearance. No medical treatment is available for correction of the pathology of disease. Plastic surgery remains the only modality of treatment to improve the cosmetic appearance. Systemic abnormalities need specific treatment depending upon the condition. The purpose of this report is due to its rarity and involvement of skin, hairs, respiratory, cardiovascular and genitourinary system in a single patient.


Connective tissue disease, Congenital, Cutis laxa, Inherited, Flaccid skin

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Hajjar WM, Alrajeh AS, Alturki LS, Al-Nassar SA, Hajjar AW. Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature. Annal Thora Med. 2018;13(4):254.

Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, et al. Discriminative features in three autosomal recessive cutis laxa syndromes: cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica. Inter J Mol Sci. 2017;18(3):635.

Irvine AD, Mellerio JE. Syndromes with Premature Ageing. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D, eds. Rook’s Textbook of Dermatology. 9th ed. West Sussex: Wiley-Blackwell; 2016:79

do Nascimento GM, Nunes CS, Menegotto PF, Raskin S, de Almeida N. Cutis laxa-Case report. An Bras Dermatol. 2010;85(5):684.

Dyer JA. Lipoid proteinosis and Heritable disorders of connective tissue. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K, eds. Fitzpatrick’s Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012:1638-1643.

Verhagen AR, Woerdeman MJ. Post‐inflammatory elastolysis and cutis laxa. Bri J Dermatol. 1975;92(2):183-90.

Choudhary SV, Bisati S, Koley S. Congenital cutis laxa with rectal and uterovaginal prolapse. Ind J Dermatol, Venereol, Leprol. 2011;77(3):321.

Dhale SN, Rathod AD, Sonawane S. A case report of cutis laxa. Bombay Hospital J. 2012;54(1):186-7.