Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

Journal of the American Academy of Dermatology

Volumn 63, Issue 2, 2010, Pages 323-328

  Zhou, Xiaolong ^a,b   Khan, Sikandar G ^a   Tamura, Deborah ^a   Patronas, Nicholas J ^b   Zein, Wadih M ^c   Brooks, Brian P ^c   Kraemer, Kenneth H ^a   DiGiovanna, John J ^a,d  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d BROWN UNIVERSITY   (United States)

Author keywords

collodion membrane; congenital ichthyosis; DNA repair; erythroderma; genetic diseases; hair abnormalities; recurrent infections; trichothiodystrophy

Indexed keywords

25 HYDROXYVITAMIN D; ALPHA FETOPROTEIN; CALCITRIOL; CREATINE KINASE; GENOMIC DNA; HEMOGLOBIN A2; IMMUNOGLOBULIN; PYROXYLIN; ERCC2 PROTEIN, HUMAN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ANHIDROSIS; ANTIBIOTIC THERAPY; ARTICLE; ASTIGMATISM; ATAXIA; CASE REPORT; CHILD; CREATINE KINASE BLOOD LEVEL; DENTAL CARIES; DEVELOPMENTAL DISORDER; EAR INFECTION; ERYTHRODERMA; EYE EXAMINATION; FEMALE; GAIT DISORDER; GENE DELETION; GENE MUTATION; HAIR ANALYSIS; HAIR DISEASE; HEAD CIRCUMFERENCE; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN M DEFICIENCY; INTRAUTERINE GROWTH RETARDATION; LEUKOCYTE COUNT; LEUKOPENIA; MATERNAL HYPERTENSION; MEAN CORPUSCULAR VOLUME; MICROCEPHALY; MICROGNATHIA; MICROSCOPY; MYELIN DEFICIENCY; NEUTROPENIA; NEUTROPHIL COUNT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PALATE MALFORMATION; PHOTOSENSITIVITY; PLACENTA DISORDER; PNEUMONIA; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SHORT STATURE; SMALL FOR DATE INFANT; SPOTTING; SUN EXPOSURE; SUNBURN; TOOTH MALFORMATION; TRICHORRHEXIS; TRICHOTHIODYSTROPHY; VITAMIN BLOOD LEVEL; BRAIN; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETICS; MULTIPLE MALFORMATION SYNDROME; NEUROLOGIC DISEASE; PATHOLOGY; PHOTOSENSITIVITY DISORDER;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; BRAIN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HAIR DISEASES; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MAGNETIC RESONANCE IMAGING; NERVOUS SYSTEM DISEASES; PHOTOSENSITIVITY DISORDERS; TRICHOTHIODYSTROPHY SYNDROMES; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 77955302973     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2010.03.041     Document Type: Article

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