title: Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
abstract: X-linked dominant protoporphyria (XLDPP) is a genetic disorder that affects the synthesis of the heme group due to an increase in delta-aminolaevulinate synthase 2 (ALAS2) enzyme activity. Moreover, annular elastolytic giant-cell granuloma (AEGCG) is a rare reactive granulomatous dermatosis, usually associated with actinic damage. An 86-year-old man presented with edematous-erythematous lesions in photoexposed areas of the face and on the dorsum of both hands. Protoporphyrin levels in serum and feces were significantly elevated and a heterozygous frameshift mutation in the exon 11 of the ALAS2 gene: c.1706-1709del (p.Glu569GlyfsX24) was identified. Concomitantly, we observed an annular plaque with raised borders on the back of his right hand, clinically and histologically compatible with a diagnosis of AEGCG. Skin lesions disappeared only upon use of a physical sunscreen. We report two rare photodermatoses in an elderly patient and discuss the significance of dermal elastic fiber damage induced by the XLDPP as a main triggering factor of AEGCG.
authors.affiliation: Department of Dermatology, Faculty of Medicine, Complejo Hospitalario Universitario, Santiago de Compostela, Spain.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: García-Martínez
authors.forename: Enrique
authors.initials: E
authors.lastname: Gutiérrez-González
authors.forename: Julio
authors.initials: J
authors.lastname: Alonso-González
authors.forename: Ana
authors.initials: A
authors.lastname: Vega
authors.forename: Marta
authors.initials: M
authors.lastname: Santamariña
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Rodríguez-Granados
authors.forename: Jaime
authors.initials: J
authors.lastname: Toribio
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000172:deficiency*; D000369:Aged, 80 and over; D005148:Facial Dermatoses / Q000150:complications*; D005243:Feces / Q000737:chemistry; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D006101:Granuloma, Giant Cell / Q000150:complications* / Q000473:pathology; D006229:Hand Dermatoses / Q000150:complications*; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000150:complications* / Q000188:drug therapy; D046351:Protoporphyria, Erythropoietic / Q000150:complications*; D011524:Protoporphyrins / Q000032:analysis / Q000097:blood; D013473:Sunscreening Agents / Q000627:therapeutic use
chemical_list: D011524:Protoporphyrins; D013473:Sunscreening Agents; D000624:5-Aminolevulinate Synthetase