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13 Cards in this Set

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Clinical Rothmund-Thomson; Poikiloderma Congenitale
Synonym
Poikiloderma Congenitale
Inheritance
Autosomal recessive; RecQL4 helicase gene on 8q24 in some cases
prenatal
DNA analysis
Incidence
Over 130 cases reported; F>M; increased with consanguinity
Age at Presentation
Three to 6 months old (cutaneous changes)
Pathogenesis
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
Clinical
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%)
Clinical
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
DDx
Bloom syndrome (p. 234)
Cockayne syndrome (p. 242)
Werner syndrome (p. 158)
Kindler syndrome
Lab
Long bone x rays
Management
Referral to dermatologist diagnosis, photoprotection
Referral to ophthalmologist yearly screen and cataract management
Referral to orthopedist, dentist, endocrinologist, hematologist/oncologist if symptomatic
Prognosis
If no malignancy then normal life span; usually normal intelligence