Acquired ichthyosis is a rare condition and ususually occurs in adult patients with various systemic diseases and drugs that affect cholesterol metabolism. As a rule when the underlying disease goes into remission, the ichtyosis regress. Clinically and histopathologically it is similar to ichthyosis vulgaris. We report a 43-year-old man with acquired ichthyosis, who associated with diabetes mellitus, chronic renal failure and hypertension.
Adult ; Cholesterol ; Diabetes Mellitus* ; Humans ; Hypertension* ; Ichthyosis Vulgaris ; Ichthyosis* ; Kidney Failure, Chronic* ; Metabolism

A specialized tissue type, the keratinizing epithelium, protects terrestrial mammals from water loss and noxious physical, chemical and mechanical insults. This barrier between the body and the environment is constantly maintained by reproduction of inner living epidermal keratinocytes which undergo a process of terminal differentiation and then migrate to the surface as interlocking layers of dead stratum corneum cells. These cells provide the bulwark of mechanical and chemical protection, and together with their intercellular lipid surroundings, confer water-impermeability. Much of this barrier function is provided by the cornified cell envelope (CE), an extremely tough protein/lipid polymer structure formed just below the cytoplasmic membrane and subsequently resides on the exterior of the dead cornified cells. It consists of two parts: a protein envelope and a lipid envelope. The protein envelope is thought to contribute to the biomechanical properties of the CE as a result of cross-linking of specialized CE structural proteins by both disulfide bonds and N(epsilon)-(gamma-glutamyl)lysine isopeptide bonds formed by transglutaminases. Some of the structural proteins involved include involucrin, loricrin, small proline rich proteins, keratin intermediate filaments, elafin, cystatin A, and desmosomal proteins. The lipid envelope is located on the exterior of and covalently attached by ester bonds to the protein envelope and consists of a monomolecular layer of omega-hydroxyceramides. These not only serve of provide a Teflon-like coating to the cell, but also interdigitate with the intercellular lipid lamellae perhaps in a Velcro-like fashion. In fact the CE is a common feature of all stratified squamous epithelia, although its precise composition, structure and barrier function requirements vary widely between epithelia. Recent work has shown that a number of diseases which display defective epidermal barrier function, generically known as ichthyoses, are the result of genetic defects of the synthesis of either CE proteins, the transglutaminase 1 cross-linking enzyme, or defective metabolism of skin lipids.
Animal ; Cell Membrane/metabolism ; Epidermis/metabolism* ; Epidermis/chemistry* ; Human ; Ichthyosis/metabolism ; Ichthyosis/genetics ; Keratinocytes/metabolism* ; Keratinocytes/chemistry ; Membrane Lipids/metabolism* ; Membrane Proteins/metabolism* ; Protein-Glutamine gamma-Glutamyltransferase/metabolism

Autosomal recessive congenital ichthyosis (ARCI) is characterized by being born as collodion babies, hyperkeratosis, and skin scaling. We described a collodion baby at birth with mild ectropion, eclabium, and syndactyly. Whole exome sequencing showed a compound heterozygous variant c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [NM_001145717; exon 1]. The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to ω-hydroxy fatty acid in ceramide, thus giving rise to ω-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function. The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein. This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.
Humans ; Infant, Newborn ; Acyltransferases/genetics* ; Ceramides/metabolism* ; Collodion ; Ichthyosis, Lamellar/genetics* ; Lipase/metabolism* ; Mutation ; Phospholipases/genetics*

A 42-year-old woman presented with ichthyosiform eruptions on her trunk and buttock which developed 20 days prior to consulatation. She had taken the cholesterol-lowering drug(lovastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) reductase inhibitor) for 4 months. After stopping the drug, the skin lesions gradually improved and after two months most of the lesions had disappeared. After 3 months of follow up the skin lesions could not be seen any more. Acquired ichthyosis in our patient could be an untoward effect of HMG CoA reductase inhibitor by disturbing the skin lipid metabolism.
Adult ; Buttocks ; Female ; Follow-Up Studies ; Humans ; Hydroxymethylglutaryl CoA Reductases ; Ichthyosis* ; Lipid Metabolism ; Lovastatin ; Oxidoreductases ; Skin

Sjögren-Larsson syndrome(SLS) is a rare hereditable disease characterized by congenital ichthyosis, spastic diplegia and mental retardation. Along with the typical triad of symptoms, many patients with this disease have short stature, kyphosis and glistening dots in the retina of the eye. The pathogenesism is unknown but recent studies suggest that SLS might be, at least in part, a disorder of fatty acid metabolism. We describe a patient with a pathognomonic finding in the fundus and with the classic features of SLS.
Cerebral Palsy ; Humans ; Ichthyosis ; Intellectual Disability ; Kyphosis ; Metabolism ; Retina ; Sjogren-Larsson Syndrome*

Fatty acids (FAs) are highly diverse in terms of carbon (C) chain-length and number of double bonds. FAs with C>20 are called very long-chain fatty acids (VLCFAs). VLCFAs are found not only as constituents of cellular lipids such as sphingolipids and glycerophospholipids but also as precursors of lipid mediators. Our understanding on the function of VLCFAs is growing in parallel with the identification of enzymes involved in VLCFA synthesis or degradation. A variety of inherited diseases, such as ichthyosis, macular degeneration, myopathy, mental retardation, and demyelination, are caused by mutations in the genes encoding VLCFA metabolizing enzymes. In this review, we describe mammalian VLCFAs by highlighting their tissue distribution and metabolic pathways, and we discuss responsible genes and enzymes with reference to their roles in pathophysiology.
Carbon ; Demyelinating Diseases ; Fatty Acids* ; Glycerophospholipids ; Ichthyosis ; Intellectual Disability ; Macular Degeneration ; Metabolic Networks and Pathways ; Metabolism* ; Muscular Diseases ; Sphingolipids ; Tissue Distribution

Harlequin baby may represent the extreme form of lamellar ichthyosis or may be a distinct entity. It is inherited as an autosomal recessive trait, but it's cause is unknown, although the abnormalities of keratinization and epidermal lipid metabolism have been suggested. We recently experienced a case of harlequin baby in a male neonate who showed the typical skin appearance at birth. His skin was markedly thickened and cracked, and large horny plates were formed over the entire body. His face was disfigured, and the nose and ear were flattened by the thickened skin. The chemosis and severe ectropion obscured the orbits, and his lips were everted and gaping. The inelastic skin resulted in flexion of all joints, and hands and feet appeared fixed and ischemic. The pathologic findings of skin biopsy were compatible to the lamellar ichthyosis and his family history was nonspecific. We managed the patient with supportive care for his special skin lesion, along with the trial of retinoic acid. However, the treatment was withheld and the baby was discharged against medical advice as the parents wised, and the baby died 5 days after discharge.
Biopsy ; Ear ; Ectropion ; Foot ; Hand ; Humans ; Ichthyosis, Lamellar ; Infant, Newborn ; Joints ; Lip ; Lipid Metabolism ; Male ; Nose ; Orbit ; Parents ; Parturition ; Skin ; Tretinoin

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.
Aldehyde Dehydrogenase ; Asthma* ; Cerebral Palsy ; Child ; Child, Preschool ; Humans ; Ichthyosis ; Incidence ; Intellectual Disability ; Leukotriene B4 ; Male ; Metabolism ; Molecular Biology ; Neurocutaneous Syndromes ; Pneumonia* ; Quadriplegia ; Sequence Deletion ; Sjogren-Larsson Syndrome*

Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Codon, Nonsense ; DNA/blood/chemistry/metabolism ; DNA Mutational Analysis ; Dermatitis, Atopic/*genetics ; Female ; Genotype ; Heterozygote ; Humans ; Ichthyosis Vulgaris/genetics ; Intermediate Filament Proteins/*genetics ; Male ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide

X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.
Adolescent ; Adult ; Asian Continental Ancestry Group/*genetics ; Child ; Chromosomes, Human, X ; Comparative Genomic Hybridization ; Cytokines/metabolism ; Humans ; Hydrogen-Ion Concentration ; Ichthyosis/diagnosis/*genetics/pathology ; In Situ Hybridization, Fluorescence ; Intermediate Filament Proteins/genetics ; Kallikreins/*genetics ; Male ; Polymorphism, Single Nucleotide ; Proteinase Inhibitory Proteins, Secretory/genetics ; Republic of Korea ; Skin/metabolism/*pathology ; Young Adult