Dermatosparaxis in children. A case report and review of the newly recognized phenotype.

Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Research Abstract Details 

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Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Abstract Text:

BACKGROUND: Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicroscopic findings have been recognized to date. OBSERVATIONS: We describe the clinical and electronmicroscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts. He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation. The diagnosis of dermatosparaxis was made by electron-microscopic findings consisting of characteristic small, irregular, and circular collagen fibers in the skin. His phenotype is strikingly similar to two other reported children with the disorder, which is now classified in humans as Ehlers-Danlos VII-C. CONCLUSIONS: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation. A suspected clinical diagnosis can be confirmed by electron-microscopic and biochemical studies of connective tissue.

Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Publishing Authors By Initials

For similar skin and connective tissue diseases: skin diseases research abstracts see: skin and connective tissue diseases: skin diseases research

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Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Archives of dermatology

VOLUME: 129

Page Numbers: 1310-5

Journal Abbreviation: Arch Dermatol

ISSN: 0003-987X

DAY: 17

MONTH: Oct

YEAR: 1993

Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 372433

Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Keywords Mesh Terms:

KEYWORDS: Skin Diseases

MESH TERMS: pathology

Chemical & Substance for Abstract: Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Information

Substance Name: Collagen

Registry Number: 9007-34-5

Grant and Affiliation Information for Dermatosparaxis in children. A case report and review of the newly recognized phenotype.

AFFILIATION: Department of Genetics, Yale University School of Medicine, New Haven, Conn.

Country: UNITED STATES

AGENCY: United States NIGMS

GRANT: NRSA-GM07439

ACRONYM: GM

MEDLINETA: Arch Dermatol

REFSOURCE: Arch Dermatol. 1993 Oct;129(10):1316-9

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