OBJECTIVES: We described epidemiological, clinical, histopathological and ultrastructural features of ichthyosis in the golden retriever breed in a prospective study. We also investigated the mode of transmission of this disease. MATERIALS AND METHODS: We examined 150 golden retrievers, 73 of which were affected by ichthyosis (35 males and 38 females). We carried out detailed clinical and histopathological examinations for 40 affected dogs. Transmission electron microscopy was performed for two of them. We used pedigree analysis with the Cyrillic software to determine the mode of transmission. RESULTS: Dermatological signs included a mild to moderate or severe generalised scaling with initially small to large whitish scales and progressively blackish scales. The ventral glabrous skin was hyperpigmented and rough, similar to sandpaper. Histopathological features were characterised by moderate to severe laminated or compact orthokeratotic epidermal hyperkeratosis without significant involvement of the stratum granulosum. Ultrastructural findings revealed laminated or compact keratin layers and numerous persistent corneodesmosomes within the stratum corneum. Analysis of the pedigree suggested an autosomal recessive inheritance. CONCLUSION: The histopathological and ultrastructural characteristics strongly suggest that golden retriever ichthyosis is a retention ichthyosis, caused by absence of corneodesmosomal degradation, transmitted through an autosomal recessive mode.
OBJECTIVES: We described epidemiological, clinical, histopathological and ultrastructural features of ichthyosis in the golden retriever breed in a prospective study. We also investigated the mode of transmission of this disease. MATERIALS AND METHODS: We examined 150 golden retrievers, 73 of which were affected by ichthyosis (35 males and 38 females). We carried out detailed clinical and histopathological examinations for 40 affected dogs. Transmission electron microscopy was performed for two of them. We used pedigree analysis with the Cyrillic software to determine the mode of transmission. RESULTS: Dermatological signs included a mild to moderate or severe generalised scaling with initially small to large whitish scales and progressively blackish scales. The ventral glabrous skin was hyperpigmented and rough, similar to sandpaper. Histopathological features were characterised by moderate to severe laminated or compact orthokeratotic epidermal hyperkeratosis without significant involvement of the stratum granulosum. Ultrastructural findings revealed laminated or compact keratin layers and numerous persistent corneodesmosomes within the stratum corneum. Analysis of the pedigree suggested an autosomal recessive inheritance. CONCLUSION: The histopathological and ultrastructural characteristics strongly suggest that golden retriever ichthyosis is a retention ichthyosis, caused by absence of corneodesmosomal degradation, transmitted through an autosomal recessive mode.
Authors: Anaïs Grall; Eric Guaguère; Sandrine Planchais; Susanne Grond; Emmanuelle Bourrat; Ingrid Hausser; Christophe Hitte; Matthieu Le Gallo; Céline Derbois; Gwang-Jin Kim; Laëtitia Lagoutte; Frédérique Degorce-Rubiales; Franz P W Radner; Anne Thomas; Sébastien Küry; Emmanuel Bensignor; Jacques Fontaine; Didier Pin; Robert Zimmermann; Rudolf Zechner; Mark Lathrop; Francis Galibert; Catherine André; Judith Fischer Journal: Nat Genet Date: 2012-01-15 Impact factor: 38.330