Subject(s)
Mucinoses , Skin Diseases , Skin Neoplasms , Humans , Skin Diseases/pathology , Mucinoses/diagnosis , Dermoscopy , Skin Neoplasms/pathologySubject(s)
Lichen Planus/drug therapy , Nail Diseases/drug therapy , PUVA Therapy , Baths , Female , Humans , Middle Aged , PUVA Therapy/methodsSubject(s)
Dermatitis, Allergic Contact/diagnosis , Facial Dermatoses/diagnosis , Minoxidil/adverse effects , Patch Tests/adverse effects , Pseudolymphoma/pathology , Dermatitis, Allergic Contact/etiology , Facial Dermatoses/etiology , Female , Humans , Middle Aged , Pseudolymphoma/etiology , Skin Diseases/etiology , Skin Diseases/pathologySubject(s)
Dermatitis, Contact/etiology , Flufenamic Acid/analogs & derivatives , Photosensitivity Disorders/chemically induced , Administration, Topical , Adult , Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Anti-Inflammatory Agents, Non-Steroidal/adverse effects , Female , Flufenamic Acid/administration & dosage , Flufenamic Acid/adverse effects , HumansSubject(s)
Lentigo/complications , Mosaicism , Neurofibromatosis 1/complications , Adult , Cafe-au-Lait Spots/complications , Female , HumansSubject(s)
Acanthoma/pathology , Skin Neoplasms/pathology , Adult , Humans , Keratinocytes/pathology , Leg , Male , Melanocytes/pathologyABSTRACT
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.