Phenotype #0000001395
| Individual ID |
00002417 |
| Associated disease |
XPV |
| Phenotype details |
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. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
38y (38 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Oscar Javier Ortega Recalde |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2013-08-26 15:19:25 +02:00 (CEST) |
| Date last edited |
N/A |
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