Harlequin ichthyosis: An ultrastructural study

Fleck, Robin M.; Barnadas, M. A.; Schulz, Werner; Roberts, Lynne J.; Freeman, Robert G.

doi:10.1016/s0190-9622(89)70289-9

Cited by 28 publications

(13 citation statements)

References 13 publications

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“…14 Varying amounts of parakeratosis and orthokeratosis were present in both cases of this study. Epidermal or dermal inflammations were not noted in either kudu, though chronic dermatitis has been reported occasionally in humans.…”

supporting

confidence: 47%

“…7,28 It appears similar to HI, as described in humans and mice, in that both disorders result in severe platelike scale formation diffusely over the body and early neonatal death. 1,27 Distinguishing morphologic features of harlequin ichthyosis include the presence of abnormal lamellar bodies on electron microscopic examination of the epidermal granular layer and retention of vesicles in the stratum corneum, 14,16,17,22 whereas parallel ultrastructural characteristics of bovine ichthyosis fetalis are yet to be determined. In this report, gross, histopathologic, and electron microscopic findings in two greater kudu calves showed several similarities with those reported with HI in humans.…”

mentioning

confidence: 99%

“…The hallmark of HI in humans and mice is the presence of abnormal lamellar bodies, which are lacking internal structure and are variably sized in the granular layer of the epidermis. 12,14,17,27 Additionally, there are large numbers of retained vesicular structures in the cytoplasm of stratum corneum of HI patients. Absence of normal lamellar bodies, retention of debris and multifocal vesicles in the stratum corneum in both affected kudu calves were consistent with findings in human and mouse HI cases.…”

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confidence: 99%

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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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confidence: 47%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Chittick¹,

Olivry²,

Dalldorf³

et al. 2002

Vet Pathol

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“…Moreover, mutations of other A type subfamily members (e.g., ABCA1, 3, and 4) have been implicated in several human diseases with abnormal lipid metabolism [13–15]. The known roles of ABCA proteins in lipid transport have led to a focus on abnormal lipid metabolism in the epidermis as the primary cause of the HI pathology [16, 17]. …”

Section: Introductionmentioning

confidence: 99%

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis

et al. 2016

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Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5’ splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Characterization of smsk mutant skin showed that the delivery of glucosylceramides and CORNEODESMOSIN was defective, while ultrastructural analysis revealed abnormal lamellar bodies and the absence of lipid lamellae in smsk epidermis. Unexpectedly, mutant stratum corneum remained intact when subjected to harsh chemical dissociation procedures. Moreover, both KALLIKREIN 5 and -7 were drastically decreased, with retention of desmoplakin in mutant SC. In cultured wild type keratinocytes, both KALLIKREIN 5 and -7 colocalized with ceramide metabolites following calcium-induced differentiation. Reducing the intracellular levels of glucosylceramide with a glucosylceramide synthase inhibitor resulted in decreased secretion of KALLIKREIN proteases by wild type keratinocytes, but not by smsk mutant keratinocytes. Together, these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation. Smsk mutant mice recapitulate many of the pathological features of HI and can be used to explore novel topical therapies against a potentially lethal and debilitating neonatal disease.

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“…Electron microscopy of ultra-thin sections showed typical Ultrastructural analyses of the rat esophageal stratified epithelium under normal conditions and in chronic reflux esophagitis in freeze-fracture studies of the stratified epithelia, only discrete TJ strands rather than the expected large areas of these strands were observed (Caputo and Peluchetti, 1977;Elias et al, 1977;Morita et al, 1998), leading several authors to call these structures maculae occludentes . Consequently, the existence of TJ structures and proteins in the squamous stratified epithelia of mammals has remained controversial for several decades (Hashimoto, 1971;Elias andFriend, 1975, 1976;Elias et al, 1977;Fleck et al, 1989;Elias, 1996). Typical TJ structures (kissing points) in transmission electron microscopy were found in the stratum granulosum (SG) of the skin Furuse et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

<b>Ultrastructural analyses of the rat esophageal stratified epithelium under normal conditions and in chronic reflux esophagitis </b>

Mori

Koike

Gotow

et al. 2011

Archives of Histology and Cytology

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TJ structures only in the stratum granulosum (SG) of the esophageal epithelia in control rats, and the number of TJ structures seemed to be decreased in the RE model.Most of the TJs were composed of only one ＂kissing point.＂ Freeze-fracture electron microscopy did not allow identification of typical TJ strands, suggesting that TJs in the rat esophageal mucosa were not well-developed. Immunoelectron microscopy confirmed our previous immunohistochemical results indicating that claudin-3 was located on the surface of esophageal epithelial cells in control rats and that the immunoreactivity decreased in the RE group. However, claudin-3 was diffusely localized on the plasma membrane and not concentrated on the TJ structures. These results indicate that claudin-3 is not directly involved in the composition of the TJ structure.

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Harlequin ichthyosis: An ultrastructural study

Cited by 28 publications

References 13 publications

Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis

<b>Ultrastructural analyses of the rat esophageal stratified epithelium under normal conditions and in chronic reflux esophagitis </b>

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