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Clouston syndrome: an ultrastructural study
Author(s) -
Escobar Victor,
Goldblatt Lawrence I.,
Bixler David,
Weaver David
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb02225.x
Subject(s) - integumentary system , hypohidrotic ectodermal dysplasia , ultrastructure , ectodermal dysplasia , biology , anatomy , pathology , genetics , medicine
A previously undescribed French‐Canadian family affected with Clouston Syndrome (Hypo‐hidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the integumentary system.