Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report two cases of marked acro-osteolysis. One patient, a 16-year-old boy, had hypertrophic pulmonary osteoarthropathy associated with bronchiectasis, clubbing of the digits, synovitis, and osseous changes. The other patient, a 55-year-old man, had pachydermoperiostosis as well as synovial hypertrophy, clubbing of the digits, blepharitis, and a cataract. While the association of acro-osteolysis and pachydermoperiostosis has been reported before, this appears to be the first verified case of acro-osteolysis combined with hypertrophic pulmonary osteoarthropathy.
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PMID:Acro-osteolysis associated with hypertrophic pulmonary osteoarthropathy and pachydermoperiostosis. 396 21

We present a 6-week-old black girl with Conradi-Hunerman-Happle syndrome (CHS). The mother had no past medical history of illness, and the pregnancy progressed normally to a spontaneous vaginal delivery at 36 weeks. There was no known significant family history. A diagnosis of chondrodysplasia punctata was made at birth from physical examination and X-ray findings. On physical examination at 6 weeks, a koala face, a saddle nose, and a right-sided cataract were noted (Fig. 1a,b). There was unilateral left-sided ichthyosis well demarcated at the midline, with whorled brown fine scale following Blashko's lines on the patient's right side. Orthopedic complications were bilateral but were more pronounced on the left side. There was bilateral shortening of the humerus, with polydactyly of the right hand, arachnodactyly of the left fingers, bilateral clubbing, and mild contractures of the feet. X-Rays showed multiple calcifications along the spine, proximal and distal femoral epiphysis, and proximal humeral epiphysis (Fig. 2). The patient was treated with emollients (aquaphor) twice daily with continuing improvement in ichthyosis. The clubbed feet were treated with splinting and the polydactyly was corrected by surgery. Ophthalmology was to follow the patient for her right-sided cataract. At the patient's 4-month follow-up, the ichthyosis showed a marked improvement with some residual hypo- pigmented atrophoderma noted. The distribution remained unchanged. Biopsies taken of ichthyotic lesions showed compact hyperkeratosis and follicular plugging. Vesicles within the stratum corneum contained amorphous material (Fig. 3a,b). The granular cell layer was thickened with retained oval nuclei. The epidermal and adnexal epithelium were disorganized. Increased apoptotic/dyskeratotic keratinocytes were seen within the epidermis, but were most evident within the follicular epithelium. Ultrastructural studies showed saccular dilations of the acellular space within the stratum corneum. These acellular spaces were filled with unprocessed lamellated pleated sheets and vesicle complexes and processed lamellae. Dyskeratotic cells were seen within the stratum spinosum. Red blood cell (RBC) plasmalogen levels and polyunsaturated fatty acids (PUFA), including decosahexaenoic acid (DHA), were within normal limits. Plasma very long chain fatty acids (VLCFA), including C26 : 0/C22 : 0 ratios, phytanic and pristanic acids, plasmalogen, and phytanic/pristanic ratios, trihydroxycholestanic acid (THCA) and dihydroxycholestanoic acid (DHCA) including their ratios, THCA/cholic acid and DHCA/chenodeoxycholic acid, and PUFAs including DHA were within normal limits. Urine organic acids and piecolic acid were within normal limits. Despite these normal values, there was an increase in cholest-8(9)-en-3beta-ol of 6.8 microg/mL (normal, 0.01-0.10 microg/mL) and an increase in 8-dehydrocholesterol (5.1 microg/mL) (normal, <0.10 microg/mL).
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PMID:Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome. 1112 47

CD8 deficiency is a rare primary immunodeficiency with low or absent peripheral CD8 cells which results from TAP deficiency, Zap 70 deficiency and CD8 alpha gene mutation.We report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years.She had growth failure, a huge spleen and moderate clubbing. In immunologic workup, humoral and phagocytic systems were normal. DTH response to candida, PPD and DT were negative but LTT response to PHA mitogen was normal. HLA typing showed normal class I expression. Flowcytometry of peripheral blood showed CD8: 0 to 2% (absolute count, 0-60 cells/mm3) with increased CD4/CD8 ratio on several occasions.Diagnosis of this patient cannot be HLA class I deficiency (TAP1 or TAP2), because class I expression had been normal. It is possible to be Zap -70 deficiency or CD8 alpha gene mutation. Bilateral uveitis in our patient was a unique presentation which might have resulted because of immune dysregulation in CID.
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PMID:Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 1730 23