Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study

Chasset, François; Fayand, Antoine; Moguelet, Philippe; Kouby, F.; Bonhomme, A.; Franck, N.; Goldman-Levy, G.; Fraïtag, Sylvie; Barbaud, A.; Queyrel, V.; Touitou, Isabelle; Boursier, Guilaine; Sarrabay, Guillaume; Ducharme-Benard, Stéphanie; Dupin, Nicolas; Françès, Camille; Bessis, Didier; Georgin‐Lavialle, Sophie; dermatologie, Groupe d'étude des maladies systémiques en

doi:10.1016/j.jaad.2020.03.110

Cited by 15 publications

(13 citation statements)

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“…Skin manifestations, of note panarteritis nodosa-like lesions, have been reported from the first descriptions [ 1 , 2 ]. Among the 257 patients with a cutaneous involvement, 180 showed a livedo reticularis or livedo racemose (47.1% of all DADA2 patients) [ 1 , 2 , 4 , 9 , 11 , 12 , 15 , 16 , 22 , 23 , 25 , 26 , 28 – 31 , 34 , 36 , 37 , 40 , 43 , 44 , 46 – 48 , 50 , 52 , 53 , 56 , 59 , 60 , 62 – 64 , 66 , 67 , 69 – 76 , 81 – 83 , 87 , 90 , 91 ], 89 panarteritis nodosa-like lesions (23.5%) [ 1 , 2 , 5 , 9 , 12 , 20 , 21 , 23 , 25 , 26 , 28 , 30 , 31 , 34 , 35 , 38 , 40 , 43 , 44 , 52 , 53 , 60 , 64 , 66 , 69 , 71 …”

Section: Resultsmentioning

confidence: 99%

“…Anaemia was reported in 97 patients (25.6%), of whom 4 showed a Blackfan-Diamond Anaemia and 23 Pure Red Aplasia [ 1 , 2 , 4 , 7 – 9 , 11 , 12 , 15 – 18 , 20 , 21 , 29 , 31 , 33 , 36 , 40 , 43 , 47 – 49 , 53 , 58 , 59 , 62 , 63 , 65 – 67 , 71 , 76 , 77 , 82 , 83 , 86 – 89 ]. Thrombocytopenia was described in 34 patients (8.9%) [ 1 , 4 , 8 , 9 , 11 , 12 , 15 , 17 , 18 , 21 , 36 , 40 , 42 , 49 , 60 , 65 , 67 , 83 ], neutropenia in 76 (20.1%) [ 1 , 4 , 8 , 9 , 11 , 12 , 15 , 17 , 18 , 21 , 22 , 32 , 36 , 38 , 42 , 43 , 45 , ...…”

Section: Resultsmentioning

confidence: 99%

“…Splenomegaly was found in 116 patients (30.6%) [ 1 , 4 , 7 – 9 , 12 , 15 – 18 , 22 , 30 , 31 , 35 , 36 , 38 – 40 , 58 , 62 – 66 , 68 , 71 , 74 , 77 – 79 , 81 , 83 , 85 – 88 , 90 , 91 ], hepatomegaly in 89 (23.5%) [ 1 , 4 , 8 , 9 , 12 , 17 , 18 , 27 , 28 , 30 , 31 , 36 , 49 , 54 , 58 , 62 – 66 , 71 , 74 , 78 , 81 , 83 , 87 , 90 , 91 ], and diffuse lymphadenopathies in 27 (7.14%) [ 1 , 4 , 9 , 12 , 17 , 18 , 27 , 30 , 54 , 58 , 62 , 65 , 71 , 86 , 90 ].…”

Section: Resultsmentioning

confidence: 99%

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A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Maccora

Maniscalco

Campani

et al. 2023

Orphanet J Rare Dis

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Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke. Methods A systematic review according to PRISMA approach, including all articles published before the 31st of August 2021 in Pubmed and EMBASE database was performed. Results The search identified 90 publications describing 378 unique patients (55.8% male). To date 95unique mutations have been reported. The mean age at disease onset was 92.15 months (range 0–720 months), 32 (8.5%) showed an onset of the first signs/symptoms after 18 years old and 96 (25.4%) after 10 years old. The most frequent clinical characteristics described were cutaneous (67.9%), haematological manifestations (56.3%), recurrent fever (51.3%), neurological as stroke and polyneuropathy (51%), immunological abnormalities (42.3%), arthralgia/arthritis (35.4%), splenomegaly (30.6%), abdominal involvement (29.8%), hepatomegaly (23.5%), recurrent infections (18.5%), myalgia (17.9%), kidney involvement (17.7%) etc. Patients with skin manifestations were older than the others (101.1 months SD ± 116.5, vs. 75.3 SD ± 88.2, p 0.041), while those with a haematological involvement (64.1 months SD ± 75.6 vs. 133.1 SD ± 133.1, p < 0.001) and immunological involvement (73.03 months SD ± 96.9 vs. 103.2 SD ± 112.9, p 0.05) are younger than the others. We observed different correlations among the different clinical manifestations. The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) has improved the current history of the disease. Conclusion Due to this highly variable phenotype and age of presentation, patients with DADA2 may present to several type of specialists. Given the important morbidity and mortality, early diagnosis and treatment are mandatory.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Maccora

Maniscalco

Campani

et al. 2023

Orphanet J Rare Dis

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show abstract

“…They often include widespread livedo reticularis (often of the racemosa subtype) involving all the limbs and (in some cases) extending to the abdomen or trunk. Other skin manifestations include nodules, EN-like lesions, purpura, leg ulcers, and Raynaud symptoms [28,29]. Any diagnosis of polyarteritis nodosa in a child should always exclude DADA2, since early treatment with an anti-TNF may prevent a stroke.…”

Section: Deficiency Of Adenosine Deaminase 2 Deficiencymentioning

confidence: 99%

Panniculitis in Children

Moulonguet

Fraïtag

2021

Dermatopathology

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Panniculitides form a heterogenous group of inflammatory diseases that involve the subcutaneous adipose tissue. These disorders are rare in children and have many aetiologies. As in adults, the panniculitis can be the primary process in a systemic disorder or a secondary process that results from infection, trauma or exposure to medication. Some types of panniculitis are seen more commonly or exclusively in children, and several new entities have been described in recent years. Most types of panniculitis have the same clinical presentation (regardless of the aetiology), with tender, erythematous subcutaneous nodules. Although the patient’s age and the lesion site provide information, a histopathological assessment is sometimes required for a definitive diagnosis and classification of the disorder. In children, most panniculitides are lobular. At present, autoimmune inflammatory diseases and primary immunodeficiencies have been better characterised; panniculitis can be the presenting symptom in some of these settings. Unexplained panniculitis in a young child should prompt a detailed screen for monogenic immune disorders because the latter usually manifest themselves early in life. Here, we review forms of panniculitis that occur primarily in children, with a focus on newly described entities.

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“…Le déficit en adénosine désaminase 2 (ADA2) est une forme monogénique de vascularite récemment identifiée, de transmission autosomique récessive, ressemblant cliniquement à une périartérite noueuse systémique idiopathique, non liée au virus de l’hépatite B [ 83 ]. Le début est pédiatrique, et associe au cours de l’évolution des signes d’auto-inflammation (fièvre récurrente, douleurs abdominales, myalgies, arthralgies et accidents vasculaires cérébraux ischémiques ou hémorragiques) et des signes cutanés évocateurs de périartérite noueuse cutanée avec en premier plan un livedo à grandes mailles ouvertes des 4 membres et des nodules des jambes avec des ulcérations nécrotiques [ 84 ].…”

Section: Connectivites Vascularitesunclassified

Quoi de neuf en dermatologie clinique ?

Senet

2021

Annales de Dermatologie et de Vénéréologie - FMC

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Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study

Cited by 15 publications

References 5 publications

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Panniculitis in Children

Quoi de neuf en dermatologie clinique ?

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