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13 Cards in this Set
- Front
- Back
Clinical Rothmund-Thomson; Poikiloderma Congenitale
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Synonym
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Poikiloderma Congenitale
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Inheritance
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Autosomal recessive; RecQL4 helicase gene on 8q24 in some cases
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prenatal
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DNA analysis
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Incidence
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Over 130 cases reported; F>M; increased with consanguinity
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Age at Presentation
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Three to 6 months old (cutaneous changes)
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Pathogenesis
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A mutation in RecQL4 helicase gene contributes to phenotype in some cases with predicted DNA repair problems and susceptibility to cancers as seen in Werner, Bloom and XPB, XPD (other helicase family gene mutation syndromes); otherwise unknown defect
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Clinical
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SKIN:
Initial erythema, edema on face rapidly replaced by red brown reticulated patche¬associated with atrophy, hypopigmentation, telangiectasias on face, buttocks, extensor extremities Photosensitivity with/without bullae Acral verrucous keratoses after puberty may precede squamous cell carcinoma Hair alopecia of scalp, eyebrows, eyelashes Nails Dystrophic nails (25%) |
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Clinical
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Musculoskeletal
Short stature, small hands and feet, hypoplastic/absent thumbs, variety of skeletal abnormalities Eyes juvenile cataracts (40% to 50%) begins at 3 to 7 years old Endocrine Hypogonadism (25%) Teeth Dental clysplasia Neoplasia (rare) Reports of osteosarcoma, fibrosarcoma, and squamous cell carcinoma |
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DDx
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Bloom syndrome (p. 234)
Cockayne syndrome (p. 242) Werner syndrome (p. 158) Kindler syndrome |
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Lab
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Long bone x rays
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Management
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Referral to dermatologist diagnosis, photoprotection
Referral to ophthalmologist yearly screen and cataract management Referral to orthopedist, dentist, endocrinologist, hematologist/oncologist if symptomatic |
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Prognosis
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If no malignancy then normal life span; usually normal intelligence
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