Long-term survival of a harlequin fetus

Roberts, Lynne J.

doi:10.1016/s0190-9622(89)80029-5

Cited by 43 publications

(8 citation statements)

References 22 publications

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“…Harlequin ichthyosis is the most severe form of congenital ichthyosis with less than 100 cases described in the literature 1 . Most affected infants die within the first few days of life 2 . Until now, only a few children with harlequin ichthyosis have survived beyond the first year of life (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Successful treatment of harlequin ichthyosis with acitretin

Singh¹,

Bhura²,

Maheshwari³

et al. 2001

Int J Dermatology

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Section: Discussionmentioning

confidence: 99%

Successful treatment of harlequin ichthyosis with acitretin

Singh¹,

Bhura²,

Maheshwari³

et al. 2001

Int J Dermatology

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“…Systemic retinoid treatment of infants affected by HI or other severe inherited keratinization disorders results in exfoliation of excess keratin and improvement of skin condition. 19,24,25 Recently, abnormalities in epidermal calcium-mediated signal transduction have also been considered as possible pathogeneses for HI. Reduced concentrations of calpain I, a calcium-activated neutral protease in the basal layer of the epidermis, could indicate such altered signaling events in fetal skin development of HI patients.…”

mentioning

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, the prognosis of newborns affected with HI has improved, owing to remarkable progress in neonatal intensive care and earlier, targeted oral retinoid treatment [4,5,6,7,8]. More than half of HI newborns including cases with a serious functional loss of ABCA12 can now survive beyond the perinatal period [7, 8, 15].…”

Section: Discussionmentioning

confidence: 99%

“…Until the 1980s, newborns affected with HI rarely survived beyond the neonatal period. However, recently, HI babies often have a better prognosis [4,5,6,7,8]. In order to obtain clues to determine the definitive features of HI patients with a better prognosis, we report an HI male patient with compound heterozygous ABCA12 mutations including a novel nonsense mutation leading to the typical HI phenotype presentation at birth.…”

Section: Introductionmentioning

confidence: 99%

Compound Heterozygous <i>ABCA12</i> Mutations Including a Novel Nonsense Mutation Underlie Harlequin Ichthyosis

Akiyama

Sakai²,

Sato³

et al. 2007

Dermatology

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Recently, it has been reported that several harlequin ichthyosis (HI) patients survive the neonatal period and their condition subsequently improves. Here we describe a 2-year-old Japanese boy who exhibited typical clinical features of HI at birth. He survived beyond the neonatal period after oral retinoid treatment and, at the age of 2 years, showed moderately thick, lamellar scales and erythroderma over his whole body. The patient is a compound heterozygote for 2 ABCA12 mutations, a paternal deletion mutation c.2021_2022del (p.Lys674ArgfsX63) and a novel maternal nonsense mutation c.7444C → T (p.Arg2482X). Electron microscopic observation of a skin biopsy specimen from the perinatal period revealed epidermal ultrastructural features consistent with HI. Immunofluorescence labeling using antiserum against a C-terminal ABCA12 epitope showed loss of expression in the patient’s epidermis. The present patient demonstrates that rapid diagnosis of HI by ABCA12 expression analysis and mutation detection, and early commencement of systemic retinoid therapy are crucial to significantly improving an HI patient’s prognosis.

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Long-term survival of a harlequin fetus

Cited by 43 publications

References 22 publications

Successful treatment of harlequin ichthyosis with acitretin

Successful treatment of harlequin ichthyosis with acitretin

Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros)

Compound Heterozygous <i>ABCA12</i> Mutations Including a Novel Nonsense Mutation Underlie Harlequin Ichthyosis

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