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Sjogren-Larsson syndrome: Report of two cases, 03/2004
Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia,... 
Dermatology | Ichthyosis, Glistening foveal dots, Non-scaly hyperkeratosis, Spastic paraplegia. dv04033
Journal
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1121 - 1132
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 556 - 564
Journal Article
Case Report - Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome, 12/2006
A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were... 
Alopecia, Ichthyosis follicularis, Photophobia
Journal
Journal Article
Clinical and Experimental Dermatology, ISSN 0307-6938, 03/2014, Volume 39, Issue 2, pp. 158 - 161
Mutations in  MBTPS 2 have been reported to cause a broad phenotypic spectrum of X‐linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and... 
FOLLICULARIS SPINULOSA DECALVANS | DERMATOLOGY | Keratosis - genetics | Metalloendopeptidases - genetics | Introns - genetics | Facial Dermatoses - genetics | RNA Splice Sites - genetics | Humans | Photophobia - genetics | Male | Nails, Malformed - genetics | Young Adult | Alopecia - genetics | Ichthyosis - genetics | Mutation | Deafness | Genetic aspects | Index Medicus
Journal Article
Short Report - Sjogren - Larsson Syndrome : A Case Report, 12/2002
Two male siblings aged 8 and 11 years, born of non-consanguineous parents, presented with classical triad of congenital ichthyosis, mental retardation and... 
Congenital ichthyosis, Mental retardation, Spastic diplegia, Sjogren larsson syndrome
Journal
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 2019
Background: Primary immunodeficiencies are rare and frequently life-threatening conditions in the first year of life. They may present with isolated skin... 
Genodermatosis | IPEX syndrome | Erythroderma | Ichthyosis | Primary immunodeficiency
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 3, pp. 536 - 543
Background Mutations in serine protease inhibitor Kazal-type 5 ( SPINK5 ), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related... 
Allergy and Immunology | immune deficiency | NK-cell cytotoxicity | Comèl-Netherton syndrome | bamboo hair | SPINK5 | LEKTI | IVIG | selective antibody deficiency | ichthyosis | atopic diathesis | WISKOTT-ALDRICH-SYNDROME | IGM SYNDROME | ERYTHRODERMA | PERIPHERAL-BLOOD | IMMUNOLOGY | MEMORY B-CELLS | NK CELLS | ALLERGY | Comel-Netherton syndrome | MUTATIONS | ANTIBODY-RESPONSES | EXPRESSION | T-Lymphocytes, Regulatory - metabolism | Humans | Proteinase Inhibitory Proteins, Secretory - genetics | Proteinase Inhibitory Proteins, Secretory - metabolism | Child, Preschool | Male | Serine Peptidase Inhibitor Kazal-Type 5 | Proteinase Inhibitory Proteins, Secretory - biosynthesis | T-Lymphocytes, Regulatory - immunology | Staphylococcal Skin Infections - drug therapy | Natural Killer T-Cells - metabolism | Staphylococcal Skin Infections - immunology | Female | Immunologic Deficiency Syndromes - immunology | Child | B-Lymphocytes - metabolism | Staphylococcus aureus | Cytokines - blood | B-Lymphocytes - immunology | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - drug therapy | Mutation | Immunologic Factors - therapeutic use | Natural Killer T-Cells - immunology | Staphylococcal Skin Infections - genetics | Medical colleges | Immunoglobulins | Genetic disorders | Protease inhibitors | Immunodeficiency | Fluorescein | Thrombin | T cells | Food allergies | Pneumonia | Cytokines | Cytotoxicity | Patients | Allergies | Asthma | Lymphocytes | Eczema | Age | Deoxyribonucleic acid--DNA | Immune system | Food | Index Medicus | Abridged Index Medicus | Comèl-Netherton Syndrome | NK cell cytotoxicity
Journal Article
Journal Article
03/2007
A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and... 
Jordans′ anomaly | Congenital ichthyosis | Dorfman-Chanarin syndrome
Web Resource
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 685 - 688
CHIME syndrome is characterized by olobomas, eart defects, chthyosiform dermatosis, ental retardation (intellectual disability), and ar anomalies, including... 
GPI ANCHOR | DEFICIENCY | GENETICS & HEREDITY | Neurocutaneous Syndromes | Pore Forming Cytotoxic Proteins - biosynthesis | Amidohydrolases - genetics | Humans | Cells, Cultured | Coloboma - genetics | Molecular Sequence Data | CD59 Antigens - biosynthesis |