Co‐occurrence of Aicardi–Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in
            <i>ADAR1</i>
            : a case series from India

Sathishkumar, Dharshini; Muthusamy, Karthik; Gupta, Aayush; Malhotra, Meenakshi; Thomas, Maya; Koshy, Beena; Jasper, Angela M.; Danda, Sumita; George, Renee D.

doi:10.1111/ced.14531

Cited by 8 publications

(13 citation statements)

References 10 publications

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“…They were all characterized by global developmental delay and dystonia, along with dyschromatosis of the extremities and facial freckling. Exome analysis performed for two patients both revealed compound heterozygous variants in ADAR1, while the third patient did not perform the genetic analysis ( 17 ).…”

Section: Literature Reviewmentioning

confidence: 99%

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

et al. 2022

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Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance. The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to Aicardi-Goutières syndrome type 6 (AGS 6), a rare hereditary encephalopathy with isolated spastic paraplegia. The pathomechanism of the ADAR1 gene mutations inducing DSH has not been clarified yet. We report the first case of DSH combined with AGS caused by the homozygous mutation of the ADAR1 gene in China (c.1622T > A) and reviewed the relevant literature. AGS 6 could occur in both men and women, and start in infancy. The main characteristics are growth retardation, skin depigmentation, intracranial calcification, and cerebral white matter lesions. In the current paper, the proband also had patent ductus arteriosus (PDA), ventricular septal defect (VSD), and mitral valve calcification, which are new symptoms that have not been reported in other cases. Additionally, we also aim to discuss the possible molecular mechanisms underlying the clinical heterogeneity caused by ADAR1 gene mutations.

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Section: Literature Reviewmentioning

confidence: 99%

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

et al. 2022

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“…AGS is an inflammatory encephalopathy which can present with spasticity, dystonia, developmental delay and elevated cerebrospinal fluid interferon alpha levels. 1 There are seven variants of heterogeneous genetics, mostly autosomal recessive.…”

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confidence: 99%

“…Type 6 is due to mutations in ADAR1 (Adenosin Deaminase Acting on RNA1). 1 DSH or reticulate acropigmentation of Dohi is an autosomal dominant pigmentation disorder also caused by mutations in ADAR1. It presents as hyper-and hypopigmented macules on the dorsum of the hands and skin accompanied by facial ephelides.…”

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confidence: 99%

“…In these patients, the lesions could be interpreted as lentiginous or ephelides. 1,2 ADAR1 catalyzes the deamination of adenosine to inosine in double-stranded RNA. Inosine acts as guanine in translation, causing functional changes in proteins.…”

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confidence: 99%

“…2,3 Mutations of this enzyme may alters the survival of Schwann cells and melanocytes, leading to the aforementioned clinical manifestations. 1 Biallelic pathological variants, either in homozygosis or compound heterozygosis, can cause both AGS and DSH1. 1 Baricitinib and reverse transcriptase inhibitors could slow the progression of AGS manifestations.…”

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Aicardi‐Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases

Linares‐Navarro,

Delgado‐Vicente,

Jiménez‐González

et al. 2023

Int J Dermatology

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We present the cases of two sisters, 5 and 2 years of age, with no family history of interest, from non-consanguineous parents, term delivery, normal birth weight, and uneventful gestation.The 5-year-old girl had numerous hyperpigmented macules of small size on the face and dorsum of the hands (Figure 1), which had appeared progressively since the age of 2 years. She had not presented episodes of chilblains. Motor, language, and psychosocial aspects were normal. At birth, a hip dysplasia was detected and successfully treated with Plavik harness.Neuroimaging studies and echocardiogram were normal.

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Autoinflammatory Diseases Presenting in the Skin

Lipsker,

Grattan,

Lovell

2024

Rook's Textbook of Dermatology

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Autoinflammatory diseases comprise a heterogeneous group of inherited monogenic and acquired polygenic multisystem disorders that may present in the skin and are therefore of importance to dermatologists. The inherited monogenic disorders typically present in childhood. Those that present with urticarial rashes are particularly important to differentiate from chronic urticaria since the pathogenesis, prognosis and treatment are completely different. Cryopyrin‐associated periodic syndrome should be suspected in children with a family history of chronic urticaria that does not respond to H 1 antihistamines and who have systemic symptoms of malaise and fever with persistently raised inflammatory indices. Autoinflammatory syndromes also may present with: unexplained fever, erysipelas‐like rash (familial Mediterranean fever), oedema (tumour necrosis factor receptor‐associated periodic syndrome), granulomatous dermatitis (Blau syndrome), an aseptic pustular dermatosis (deficiency of interleukin 1 receptor antagonist) or pyoderma gangrenosum (pyogenic sterile arthritis, acne and pyoderma gangrenosum), chilblain or acral erythematous atrophic or necrotic lesions in a toddler with neurological (Aicardi‐Goutières syndrome) or interstitial pneumonia (STING‐associated vasculopathy of infancy), lipoatrophy (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature), livedo, nodules (vasculitis) and stroke (deficiency of adenosine deaminase 2), aphtous stomatis with early‐onset bowel disease (haploinsufficiency of A20 or of RELA). Acquired autoinflammatory syndromes which present in adult life include Schnitzler syndrome and adult Still disease; the differential diagnosis includes urticarial vasculitis.

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Co‐occurrence of Aicardi–Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1 : a case series from India

Cited by 8 publications

References 10 publications

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

Aicardi‐Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases

Autoinflammatory Diseases Presenting in the Skin

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