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[Congenital generalized cutis laxa: 5 cases]
Insights
Congenital cutis laxa is a rare genetic disorder. This study highlights its clinical and genetic heterogeneity, with varied inheritance patterns and prognoses observed in five pediatric cases.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Congenital cutis laxa is an exceptionally rare connective tissue disorder.
- No extensive case series have been published in French literature.
- This report details five pediatric cases observed between 1993 and 1997.
Observation:
- Five children presenting with congenital generalized cutis laxa were evaluated.
- Diagnostic methods included family history, visceral assessments, skin biopsies with histological and histomorphometric analysis, karyotyping, and copper metabolism tests.
- Specific tests included orceine staining for elastic fibers and assessment of serum copper (cupremia) and ceruloplasmin levels.
Findings:
- Clinical diagnosis was confirmed histologically in all cases.
- One case showed discrete ultrastructural anomalies and possible autosomal dominant inheritance.
- Four cases exhibited probable autosomal recessive inheritance with severe prognoses, including one fatality due to pulmonary emphysema and others with severe malformative syndromes.
Implications:
- Congenital cutis laxa represents a clinically and genetically heterogeneous group of disorders.
- Associated anomalies in some patients were not directly linked to elastic tissue abnormalities.
- Findings underscore the complexity of cutis laxa and the need for comprehensive genetic and clinical evaluation.
Background:
Congenital cutis laxa is an exceptional condition. No large scale series has been reported in the French literature. We report 5 cases observed between 1993 and 1997.
Patients And Methods:
Five children with a morphotype compatible with congenital generalized cutis laxa were examined. A family study, complete visceral workup and skin biopsy with standard histology, orceine coloration and histomorphometric analysis of the collagen and elastic fibers of the dermis were performed. Karyotype and copper metabolism (cupremia and ceruloplasminemia) were available in 3 children.
Results:
The diagnosis was clinical and proven histologically by orceine coloration of skin biopsies in all cases. There were discrete ultrastructure anomalies in the pure cutaneous form expressed in case n(o) 1 with possible autosomal dominant inheritance. Cupremia and ceruloplasminemia were normal in the 3 children explored; this corresponds to absence of the Elhers-Danlos type IX phenotype. The karyotype was normal in 3/3 children, in agreement with the absence in these three children of marfanoid cutis laxa phenotype. Patients n(o) 2, 3, 4 and 5 had common features: probable autosomal recessive inheritance and severe prognosis. Patient n(o) 2 died at the age of 3 weeks and had severe pulmonary emphysema. This child's sister also had cutis laxa but with no visceral component (autosomal recessive inheritance with variable expression). Patients n(o) 3, 4 and 5 had a severe multiple malformative syndrome with facial dysmorphism, growth retardation, unexplained digestive disorders and psychomotor retardation.
Discussion:
Our series of 5 patients and data in the literature confirm that primary cutis laxa is a heterogeneous group of conditions both clinically and genetically. The anomalies associated in patients n(o) 3, 4 and 5 were not directly related to anomalous elastic tissue as was also the case for the craniostenosis in patient n(o) 3 reported in other cases in the literature.