Disease #00178 (XPV (xeroderma pigmentosum, variant type (XPV)), OMIM:278750)

Official abbreviation XPV
Name xeroderma pigmentosum, variant type (XPV)
OMIM ID 278750
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene POLH
Associated tissues -
Disease features -
Remarks -
Date created 2013-08-26 11:32:59 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00002416 - - aggressive phenotype of xeroderma pigmentosum variant (OMIM: 278750) M no France white >62y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002417 - - - F yes Colombia - >38y - - - XPV 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. POLH POLH 1 1 Oscar Javier Ortega Recalde
00002609 - - - M yes Algeria white >41y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002610 - - Origin/Geographic: Kosovo F no - white >23y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002611 - - - F yes Algeria white >42y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002612 - - - M yes Tunisia white >32y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002613 - - - F yes France white >86y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002614 - - - M yes Tunisia white >47y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002615 - - - M yes Algeria white >30y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002616 - - - M yes Algeria white >21y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002617 - - - F yes Turkey white >29y - - - XPV - POLH POLH 2 1 Alain Sarasin
00002618 - - - M yes Algeria white >35y - - - XPV - POLH POLH 1 1 Alain Sarasin
00002619 - - - F no Congo African >44y - - - XPV - POLH POLH 1 1 Alain Sarasin
00056441 - - - F no Brazil - >32y - yes Surgical removal of tumors XPV - POLH POLH 2 1 Tiago de Souza
00056442 - - - F no Brazil - >36y - yes Surgical removal of tumors XPV - POLH POLH 2 1 Tiago de Souza
00056443 - - - M yes Brazil - >05y - yes Surgical removal of tumors XPV - POLH POLH 2 1 Tiago de Souza
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