Results 21 to 30 of about 15,819 (153)
Xeroderma Pigmentosum - A Family
Indian Journal of Dermatology, 2000 A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.
Garg Anush, Singhi M.K
doaj +1 more source
Xeroderma Pigmentosum- Eye Changes
Indian Journal of Dermatology, 2002 Xeroderma pigmentosum is a rare hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. Two brothers of a family with cutaneous and ocular involvement are reported.
Bhaduri Gautam, Banerjee Anita
doaj +1 more source
Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature. [PDF]
Mov DisordAbstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Bakr FS +4 more
europepmc +2 more sources
Symptoms and Course of Xeroderma Pigmentosum [PDF]
Pediatric Neurology Briefs, 2008 Sixteen Finnish patients with xeroderma pigmentosum (XP) were followed for up to 23 years, and their neurological symptoms and course determined in a study at Turku University Central Hospital, Finland; Erasmus University, Rotterdam, The Netherlands ...
J Gordon Millichap
doaj +2 more sources
Indian Journal of Dermatology, 2002 A case of typical xeroderma pigmentosum with pre-malignant and malignant tumours is being reported. The patient, a 13 year old male had presented with progressive freckling, dryness and hypo pigmented atrophic lesions on the body, especially the exposed ...
Dogra Alka +2 more
doaj +1 more source
De Sanctis-Cacchione Syndrome in a female infant - Case report [PDF]
Anais Brasileiros de Dermatologia, 2013 The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published.
Amadeus Lima Rocha Caldas +1 more
doaj +1 more source
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
Journal of Medical Case Reports, 2017 Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history.
Yassamine Doubaj +3 more
doaj +1 more source
Frontiers in Oncology, 2023 BackgroundXeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers.
Elvelyn R. Fernandez +7 more
doaj +1 more source
Angiosarcoma y xeroderma pigmentosum. Reporte clinicopatológico de un caso [PDF]
Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2004 El angiosarcoma cutáneo es una entidad rara que se presenta en pacientes mayores de 50 años. Se reporta un caso en una niña de 7 años de edad con xeroderma pigmentosum vista en el Instituto Nacional de Cancerología.
Mariam Rolón Cadena +1 more
doaj +1 more source
Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child
Clinical Case Reports, 2023 Key Clinical Message Xeroderma pigmentosum is an autosomal recessive disorder with various ocular manifestations of which bilateral limbal stem cell deficiency is a rare manifestation.
Bharat Gurnani, Kirandeep Kaur
doaj +1 more source