SHORT PAPER — Epidermolytic Ichthyosis in a Dog: Clinical, Histopathological, Immunohistochemical and Ultrastructural Findings

Mecklenburg, Lars; Hetzel, U.; Ueberschär, S

doi:10.1053/jcpa.1999.0371

Cited by 21 publications

(26 citation statements)

References 21 publications

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“…15 To date, relatively few ichthyosiform disorders have been documented in dogs, and most are reported as single cases. [5][6][7][8][11][12]18,21,[26][27][28] The Golden Retrievers presented herein have histopathologic, ultrastructural, and clinical changes that warrant classification as a primary disorder of cornification and specifically ichthyosis. Although the general term seborrhea can describe scaling disorders, it is nonspecific, and the histologic changes here are very different from those of seborrheic dermatitis, as occurs in several breeds.…”

Section: Discussionmentioning

confidence: 99%

“…16 In veterinary medicine, the term ichthyosis has been limited to rare congenital or hereditary disorders believed to be due to primary defects in the formation of the stratum corneum. 30 To date, several ichthyosiform disorders have been characterized in companion animals; [5][6][7][8][11][12]18,21,[26][27][28] only rarely has the molecular mechanism been elucidated. 8,11 In contrast, most cornification disorders in dogs are secondary to other diseases, such as allergies, metabolic/endocrine abnormalities, and/or bacterial infections.…”

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confidence: 99%

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The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever

et al. 2008

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Abstract. A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever

et al. 2008

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“…1,7,8,20,23,27,28 Human ichthyoses represent multiple diseases with different underlying genetic defects, although all result in scaly skin as the name suggests, derived from the Greek word for fish. Harlequin ichthyosis (HI), characterized by the accumulation of dense scale at birth, is considered to be the most severe of the nonbullous recessive congenital ichthyoses.…”

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confidence: 99%

Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Chittick¹,

Olivry²,

Dalldorf³

et al. 2002

Vet Pathol

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Abstract. Two greater kudu calves (Tragelaphus strepsiceros) born 7 years apart were found with fissures and thickened, scaly, cutaneous plates covering over 80% of their bodies. One was dead at presentation, and the other was euthanized shortly after birth. Both animals shared a common sire. On necropsy, chemosis, ectropion, eclabium, and bilateral valgus deformities of the tarsal joints were observed in one calf, presumed to be secondary to the plates restricting normal fetal development. The principal microscopic lesion was severe lamellar orthokeratosis, with focal mild parakeratosis. Ultrastructural epidermal lesions included the absence of normal lamellar granules, large dilated endoplasmic reticulum, and abnormal retention of organelles and vesicles. Gross, histopathologic, and electron microscopic findings in both kudu calves were consistent with those of harlequin ichthyosis, a rare dermatosis of humans believed to have an autosomal recessive inheritance pattern. The underlying genetic and molecular abnormality and heritability of this condition in this greater kudu herd were not determined.Key words: Greater kudus; harlequin ichthyosis; histopathology; skin; ultrastructure.Two deformed greater kudu calves with the same sire were found on exhibit at the North Carolina Zoological Park over a period of 7 years. Both animals were found within hours after birth and showed similar external abnormalities. The first calf, kudu No. 1, was found dead in October 1993, approximately 24 hours after its dam had displayed signs of premature labor. The calf was small, female, and had a hairless, pigmented integument with numerous fissures and cracks. The texture of the skin was described as that of ''leather.'' The lungs appeared dark pink and did not float in formalin. Tissues were reported to be moderately autolyzed, but other morphologic abnormalities were not noted on gross necropsy.The second kudu calf, kudu No. 2, was found alive within 6 hours of birth with its 11-year-old mother in July 2000 after a normal gestation length. Over 80% of the calf's body was covered with a 0.3-0.5 mm thick dark gray/brown platelike material that was dry, fissured, and incorporated underlying hair (Figs. 1, 2). The limbs were tucked beneath the body in a fetal position and could not be extended. Additionally, both rear limbs had mild valgus rotation at the tarsal joints. Ocular abnormalities included chemosis, erythematous conjunctiva, and diffuse lens opacity bilaterally. Both aural pinnae were dry, thickened, and curled at the tips. The taut platelike tissue everted the lower lip and eyelids. Fifteen hours after birth the calf was unable to stand or nurse, apparently because of restriction of movement by the scaly plates, and was euthanized by intravenous injection of sodium pentobarbital.Postmortem examination revealed a 9.4-kg male neonate that was fully haired underneath the gray/brown plate carapace. On internal examination a hemorrhagic patent urachus was filled with clear yellow urine. Testes were located inguinally. In th...

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“…Recently, we recognized a recessive EHK phenotype in an extended pedigree of Norfolk terrier dogs (Barnhart et al 2004). Also, sporadic cases with a phenotype resembling EHK have been noted in the Rhodesian ridgeback (Hargis, personal communication), Labrador retriever (Mecklenburg et al 2000), Rottweiler (Shearer, personal communication) and a mixed breed dog (August et al 1988). KRT1, KRT10 and KRT2e are all candidate genes for these disorders.…”

Section: Introductionmentioning

confidence: 99%

Comparative sequence analysis and radiation hybrid mapping of the canine keratin 10 gene

et al. 2005

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The type I keratin, K10, is expressed in epidermal keratinocytes undergoing terminal differentiation to form the stratum corneum, a barrier essential for life. In order to facilitate the study of keratinization disorders in the dog, the sequence and mapping of KRT10 is reported. The coding region of KRT10 is 1707 bp and is comprised of eight exons. Although the length of KRT10 has been reported to be polymorphic in humans, this was not observed in the eight domestic dog breeds studied, although one wild canid displayed a size difference. The structure and sequence of this gene is highly conserved across mammalian species. Canine K10 had an 86% amino acid identity with the human gene. KRT10 was localized to the on-going canine radiation hybrid map to chromosome 9 in the type I keratin gene cluster.

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SHORT PAPER — Epidermolytic Ichthyosis in a Dog: Clinical, Histopathological, Immunohistochemical and Ultrastructural Findings

Cited by 21 publications

References 21 publications

The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever

The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever

Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Comparative sequence analysis and radiation hybrid mapping of the canine keratin 10 gene

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