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Case Reports
. 2022 Dec 22:10:1069242.
doi: 10.3389/fped.2022.1069242. eCollection 2022.

Acrofacial necrotic ulcers in an infant: An undiagnosed presentation

Georgina-Maria Sarika  1 , Rony Shreberk-Hassidim  1 , Alexander Maly  2 , Vered Molho-Pessach  1
Affiliations
Case Reports

Acrofacial necrotic ulcers in an infant: An undiagnosed presentation

Georgina-Maria Sarika et al. Front Pediatr. .

Abstract

Acral necrotic ulcers in infancy are rare but have been described in type I interferonopathies. Herein, we present a case of an 8-year-old child who presented at the age of one month with severe ulceronecrotic lesions on the face and limbs with exacerbations following exposure to cold weather. Despite extensive investigation the case remains undiagnosed to this day. We hypothesize that this case represents a novel and yet unknown autoinflammatory disease.

Keywords: acrofacial necrotic ulcers; lipodystrophy; perniosis; type 1 interferonopathies; undiagnosed cases.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
(A–C) Clinical features on admission at age 5-months: erythematous plaques with central necrosis on the tip of the nose and the cheeks bilaterally (A). Ulceration on the helix of the left ear (B) Right knee with erythematous plaques with yellow-brown central crusts (C).
Figure 2
Figure 2
(A,B) Histopathological findings of skin biopsies: epidermal necrosis, a mononuclear perivascular and periadenxal infiltrate, fat necrosis with hyalinization. Changes compatible with lipodystrophy in the dermis and subcutaneous tissue. (Figure A: H&E, ×50, Figure B: H&E, ×100).
Figure 3
Figure 3
(A–C) Clinical features on his last follow up at the age of 9-years. Dyspigmented atrophic plaques on the cheeks, nose, chin and lateral upper eyelidswith deformity and scarring. Dystrophic and wasted saddle nose (A). Right hand showing ulcerated plaques covered with thick crust and scale, dyspigmented atrophic scars and contractures of fingers (B). Muscle wasting and dyspigmented atrophic scars on the lower limbs, ulcerated plaques and swelling of the knees (C).
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References

    1. Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: aicardi-goutières syndrome and beyond. Neuropediatrics. (2016) 47:355–60. 10.1055/s-0036-1592307 - DOI - PubMed
    1. Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol. (2015) 15:429–40. 10.1038/nri3850 - DOI - PubMed
    1. Wang Y, Wang F, Zhang X. STING-associated vasculopathy with onset in infancy: a familial case series report and literature review. Ann Transl Med. (2021) 9:176. 10.21037/atm-20-6198 - DOI - PMC - PubMed
    1. Aderibigbe OM, Priel DL, Lee CC, Ombrello MJ, Prajapati VH, Liang MG, et al. Distinct cutaneous manifestations and cold-induced leukocyte activation associated with PLCG2 mutations. JAMA Dermatol. (2015) 151:627–34. 10.1001/jamadermatol.2014.5641 - DOI - PMC - PubMed
    1. Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int. (2012) 61:197–206. 10.2332/allergolint.11-RAI-0416 - DOI - PubMed

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