title: Chilblains as a diagnostic sign of aicardi-goutières syndrome.
abstract: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been described in AGS patients and recent papers have discussed the clinical, molecular and cutaneous histopathological overlap with chilblain lupus. Here we report on 2 unrelated children with AGS and chilblain lesions, whose clinical histories and examination findings well illustrate the wide phenotypic variability that can be seen in this pleiotropic disorder. Although both patients show remarkable similarity in the histopathology of their associated skin lesions, with thrombi formation, fat necrosis and hyalinization of the subcutaneous tissue, we note that the histopathology reported in other AGS cases with chilblains does not necessarily demonstrate this same uniformity. Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease.
authors.affiliation: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com
authors.forename: G M H
authors.initials: GM
authors.lastname: Abdel-Salam
authors.forename: G Y
authors.initials: GY
authors.lastname: El-Kamah
authors.forename: G I
authors.initials: GI
authors.lastname: Rice
authors.forename: M
authors.initials: M
authors.lastname: El-Darouti
authors.forename: H
authors.initials: H
authors.lastname: Gornall
authors.forename: M
authors.initials: M
authors.lastname: Szynkiewicz
authors.forename: F
authors.initials: F
authors.lastname: Aymard
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
authors.forename: A K
authors.initials: AK
authors.lastname: Abdel-Aleem
authors.forename: P
authors.initials: P
authors.lastname: Lebon
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D001480:Basal Ganglia Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002114:Calcinosis / Q000235:genetics / Q000473:pathology; D002647:Chilblains / Q000209:etiology* / Q000235:genetics; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000150:complications* / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000235:genetics; D008297:Male; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics; D000076106:SAM Domain and HD Domain-Containing Protein 1; D012640:Seizures / Q000150:complications / Q000235:genetics; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins