Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.

[erythropoietic protoporphyria]

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 (ALAS 2 ) 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 ALAS 2 gene : c .1706 -1709 del (p .Glu 569 GlyfsX 24 ) 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 .

Diseases
Validation

Diseases presenting "skin lesions" symptom

child syndrome

cowden syndrome

cutaneous mastocytosis

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

familial mediterranean fever

focal myositis

gm1 gangliosidosis

heparin-induced thrombocytopenia

hirschsprung disease

junctional epidermolysis bullosa

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

oligodontia

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

proteus syndrome

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

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