Phenotype #0000045726

Individual ID 00059219
Associated disease PN
Phenotype details poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y04m (4 months)
Age/Diagnosis 08y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo