Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus

We report a 2‐year‐old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lympho...

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Bibliographic Details
Published in:Journal of cutaneous pathology 2008-08, Vol.35 (8), p.774-778
Main Authors: Kolivras, Athanassios, Aeby, Alec, Crow, Yanick J., Rice, Gillian I., Sass, Ursula, André, Josette
Format: Article
Language:English
Subjects:
Acrocallosal Syndrome - complications
Acrocallosal Syndrome - pathology
Biological and medical sciences
Blister - complications
Blister - pathology
Child, Preschool
Dermatitis - complications
Dermatitis - pathology
Dermatology
Epidermis - pathology
Female
Humans
Intellectual Disability - complications
Intellectual Disability - pathology
Lupus Erythematosus, Cutaneous - complications
Lupus Erythematosus, Cutaneous - pathology
Malformations of the nervous system
Medical sciences
Necrosis - pathology
Neurology
Seizures - complications
Seizures - pathology
Skin involvement in other diseases. Miscellaneous. General aspects
Syndrome
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Summary:We report a 2‐year‐old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis with fibrinoid necrosis and thrombi formation, both superficial and deep dermal lymphocytic infiltrate, lymphocytic eccrine hidradenitis and absence of marked dermal edema. Subsequent investigations suggested a clinical diagnosis of Aicardi–Goutières syndrome (AGS), a rare genetic leukoencephalopathy. Recently, both AGS and familial chilblain lupus, an autosomal dominant form of systemic lupus erythematosus (SLE), have been shown to be allelic thus suggesting a common pathogenic basis. In addition, a phenotypic overlap is apparent between SLE and AGS. To our knowledge, this is the first comprehensive dermatopathological report of the cutaneous lesions seen in AGS, and our paper highlights the importance of considering AGS in the differential diagnosis of perniosis and chilblain lupus.
ISSN:0303-6987
1600-0560
DOI:10.1111/j.1600-0560.2007.00900.x