Cases reported "Ichthyosis, Lamellar"

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11/59. De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

    Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder. ( info)

12/59. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.

    Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I-IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity. ( info)

13/59. Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.

    A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. Of five reported pedigrees, four presented as mutilating keratoderma with ichthyosis (variant Vohwinkel syndrome), and one as progressive symmetric erythrokeratoderma. We report a new Japanese pedigree of loricrin keratoderma. A 14-year-old male and his 11-year-old female sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum. Their father was similarly affected. Direct sequencing of genomic dna revealed a G residue insertion at codon 230-231 of the loricrin gene. Antibody studies confirmed the presence of mutant loricrin in the retained nuclei. We conclude that loricrin gene mutation may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby. ( info)

14/59. Bullous and non-bullous ichthyosiform erythroderma associated with generalized pustular psoriasis of von Zumbusch type.

    Bullous ichthyosiform erythroderma (BIE) and non-bullous ichthyosiform erythroderma (NBIE) are rare congenital ichthyoses. Generalized pustular psoriasis (GPP) of von Zumbusch type is a rare and severe form of psoriasis marked by desquamative and pustular erythroderma associated with fever and altered general conditions. We report two adults with an ichthyosis typical of BIE in the first case and NBIE in the second, without any previous history of psoriasis, who presented with a severe and relapsing GPP of von Zumbusch type. Using current knowledge of the genetic relationship between psoriasis and congenital ichthyoses, we discuss the possibility of a common physiopathological link between congenital ichthyoses and GPP, and examine the possible therapeutic problems resulting from this pathological association, especially in BIE. ( info)

15/59. Lamellar ichthyosis: a case report.

    Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births. It is characterized by large, polygonal, grayish brown, and tightly adherent scales. We report a four-year-old boy with desquamative lesions since birth who had six-year-old sister with similar lesions, suggesting an autosomal recessive inheritance. His skin biopsy revealed hyperkeratosis with lamellae. There were no associated hair or neurological abnormalities. His clinical and histopathological findings were typical for isolated lamellar ichthyosis. Because of its rare occurrence, we report this case with a review of the literature. ( info)

16/59. Oral acitretin treatment in severe congenital ichthyosis of the neonate.

    Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day). Clinical improvement was achieved shortly after treatment. The second case received oral retinoid for 3.5 months and was followed for nine months. The result was excellent. The treatment resulted in a satisfactory improvement in the skin condition of the first case. The tolerance to the drug was good. Side effects were not observed. It was concluded that early management of severe ichthyosis cases could prevent life-threatening events such as hyperthermia, disturbance in electrolyte and fluid balance, and infection. ( info)

17/59. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.

    Congenital ichthyosis, otherwise known as harlequin fetus, is a severe, generally lethal, anomaly. prenatal diagnosis is usually possible in families at risk but requires invasive fetoscopy for skin biopsy. The application of three-dimensional ultrasound enables a greatly improved analysis of the facial morphology and thus provides an important contribution to prenatal diagnosis. Although such three-dimensional diagnostic procedures are performed in specialized centers, sonographers should be aware of the signs observed at routine two-dimensional ultrasound examination in order to ensure appropriate referral for diagnosis. We describe two consecutive pregnancies of the same parents in which two- and three-dimensional ultrasound were used in the prenatal diagnosis of harlequin fetus. ( info)

18/59. Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin.

    PURPOSE: To report the use of an Apligraf (organogenesis, Inc., Canton, massachusetts, USA) human skin equivalent for repair of cicatricial ectropion in a patient with harlequin ichthyosis. DESIGN: Interventional case report. methods: A 6-week-old male child with harlequin ichthyosis and severe bilateral upper eyelid cicatricial ectropion underwent repair with Apligraf grafts. RESULTS: After the initial repair with Apligraf grafts, recurrent bilateral upper eyelid ectropion developed, requiring repeat Apligraf grafting at age 61 days. After the second graft, the eyelids remained well positioned until the child's sudden death from respiratory failure at age 6 months. CONCLUSION: Apligraf human skin equivalent facilitated the repair of cicatricial ectropion in a child with harlequin ichthyosis. ( info)

19/59. Against all odds: breastfeeding a baby with harlequin ichthyosis.

    Harlequin ichthyosis, a congenital skin condition, poses challenges to nursing care, which include preventing infection, feeding, and enhancing attachment. Although breastfeeding is recognized as the best form of nutrition for infants, it may not be considered as part of a treatment plan for infants with complex needs. This article explores the experiences of one mother and her newborn with harlequin ichthyosis, and how they taught us to remember that there are unlimited possibilities for care. ( info)

20/59. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.

    Malformation of the cornified cell envelope (CCE) arising from mutations of the transglutaminase (TGase) 1 gene (TGM1) is the cause of some cases of lamellar ichthyosis (LI). However, genotype/phenotype correlation in TGM1 mutations has not yet been fully clarified. We report a typical case of LI caused by a novel mutation in TGM1. The patient, a 33-year-old woman, showed thick, lamellar scales on the entire body surface. Immunofluorescence labelling with anti-TGase 1 antibodies was negative in the patient's epidermis. In situ TGase activity assay detected markedly reduced TGase activity in granular layers of the patient's epidermis. Electron microscopy revealed incomplete thickening of the CCE during keratinization in the epidermis. Sequencing of the entire exons and exon-intron borders of TGM1 revealed that the patient was a homozygote for a novel deletion mutation 371delA in exon 3. This mutation leads to a frameshift resulting in a premature termination codon 43 bp downstream from the mutation site. According to the protein modelling of TGase 1, the truncated protein from this mutated allele loses the entire catalytic core domain of TGase 1. Thus, the present homozygous mutation is expected to cause total loss of TGase 1 activity, resulting in large, dark, lamellar scales on the entire body, the classic phenotype of LI, in this patient. ( info)
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