Phenotypes for disease #00178 (XPV (xeroderma pigmentosum, variant type (XPV)), OMIM:278750)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000001395 38-year-old female who presented numerous sun-induced skin changes since infancy; 21y she presented a unique skin lesion, located on the dorsal region of the nose, which was diagnosed as a squamous cell carcinoma. Since then, 4 additional tumors (basal cell carcinomas) have been diagnosed and surgically resected. No antecedents of melanoma or further neoplasias were recorded; 37y physical examination of the skin displayed: Fitzpatrick phototype III, xerosis, multiple telangiectasias and hyper and hypo pigmented lenticular macules (2mm-5mm). These lesions were especially located on UV exposed regions, such as face, upper limbs, feet, legs and upper thorax. Additionally, she displayed plaques of keratosis located on the face, arms and legs. Palm and soles, scalp, mucosae and nervous system were unaffected. - - Familial, autosomal recessive 38y - - - - Oscar Javier Ortega Recalde 00002417
0000001567 - - - Familial, autosomal recessive - - - - - Alain Sarasin 00002416
0000001571 - - - Familial, autosomal recessive - - - - - Alain Sarasin 00002609
0000001572 - - - Familial, autosomal recessive 22y - - - - Alain Sarasin 00002610
0000001573 - - - Familial, autosomal recessive 32y - - - - Alain Sarasin 00002611
0000001574 - - - Familial, autosomal recessive 18y - - - - Alain Sarasin 00002612
0000001575 - - - Familial, autosomal recessive 50y - - - - Alain Sarasin 00002613
0000001576 - - - Familial, autosomal recessive 5y - - - - Alain Sarasin 00002614
0000001577 - - - Familial, autosomal recessive 16y - - - - Alain Sarasin 00002615
0000001578 - - - Familial, autosomal recessive 16y - - - - Alain Sarasin 00002616
0000001579 - - - Familial, autosomal recessive 22y - - - - Alain Sarasin 00002617
0000001580 - - - Familial, autosomal recessive 30y - - - - Alain Sarasin 00002618
0000001581 - - - Familial, autosomal recessive 42y - - - - Alain Sarasin 00002619
0000043060 - - - Familial, autosomal recessive - 32y 07y xerosis, ocular symptoms, photophobia - Tiago de Souza 00056441
0000043061 - - - Familial, autosomal recessive 36y - 07y xerosis, ocular symptoms, photophobia - Tiago de Souza 00056442
0000043062 - - - Familial, autosomal recessive 05y - 02y xerosis, ocular symptoms, photophobia - Tiago de Souza 00056443
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