Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes
, 2003 Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to
ENA, Pasquale, PINNA, Antonio
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Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis
, 2015 Purpose: To evaluate the ocular surface and topography findings of lamellar ichthyosis, and to investigate the correlation of these findings with mutations in TGM1, CYP4F22 and NIPAL4 genes.
Onay, Huseyin +6 more
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The pH of the skin surface and its impact on the barrier function [PDF]
, 2006 The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Korting, Hans Christian +1 more
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Infantile erythrodermic psoriasis: A case report and review of the literature
Indian Journal of Paediatric Dermatology, 2017 Erythroderma in infants can be attributed to plenty of causes, the more common ones being nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, severe atopic dermatitis, etc., However, there
Piyush Kumar, Anupam Das, Shvetha Jain
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Oral manifestations of lamellar ichthyosis: A rare case report
, 2016 The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without ...
Keerthi K Nair +3 more
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Oral acitretin treatment in severe congenital ichthyosis of the neonate
The Turkish Journal of Pediatrics, 2002 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).
Z Nurhan Saraçoğlu +4 more
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Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
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Altered expression of immunoreactive involucrin in lamellar ichthyosis
, 1999 In some cases of lamellar ichthyosis, mutations in the epidermal transglutaminase gene and a reduction in the thickness of the cornified envelope have been documented.
Peña-Penabad, Carmen +5 more
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The successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective. [PDF]
J Surg Case Rep, 2023 Johnson M, Mowatt C, Scott K.
europepmc +1 more source
Long and very long lamellar phases in model stratum corneum lipid membranes
Journal of Lipid Research, 2019 Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine N-tetracosanoyl-d-erythro-sphingosine (CerNS24) alone or with omega-O ...
Petra Pullmannová +7 more
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