Cutis laxa - Case report;Cútis laxa - Relato de caso

Anais Brasileiros de Dermatologia

Volumn 85, Issue 5, 2010, Pages 684-686

  Do Nascimento, Gisele Moro ^a   Nunes, Caroline Sampaio Alves ^a   Menegotto, Paula Fatuch ^b   Raskin, Salmo ^c   De Almeida, Nádia ^c  

^a PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^b Dermatology   (Brazil)

^c Pequeno Principe Hospital   (Brazil)

Author keywords

Consanguinity; Cutis laxa; Genetic counseling

Indexed keywords

FIBULIN 5;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONSANGUINITY; CUTIS LAXA; FAMILY COUNSELING; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; PRESCHOOL CHILD; PROGNOSIS; RARE DISEASE; SKIN MANIFESTATION;

EID: 78650502211     PISSN: 03650596     EISSN: 18064841     Source Type: Journal    
DOI: 10.1590/s0365-05962010000500013     Document Type: Article

References (5)

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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.
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.
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.