Recurrent lipoatrophic panniculitis of children

Torrelo, Antonio; Noguera‐Morel, Lucero; Hernández‐Martín, Ángela; Garulo, Daniel Clemente; Barja, Juan; Buzon, Linda Coronell; Azorín, Daniel; Jesús, Adriana Almeida de; López-Robledillo, J.C.; Colmenero, Isabel; Kutzner, Heinz; Goldbach-Mansky, R.; Requena, Luis

doi:10.1111/jdv.13858

Cited by 21 publications

(7 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Alternatively, increased expression of proinflammatory cytokines in adipose tissue and reduced secretion of adiponectin and leptin may be involved ( 35 , 36 ). An intense type 1 IFN signature is believed to be associated with fat loss in children with lipoatrophic panniculitis ( 37 ), which reinforces the role of IFN in CANDLE syndrome. Type 1 IFNs may be toxic to adipocytes, as is suggested by the development of lobar panniculitis with lipophagia and lipoatrophy in patients treated with intramuscular injections of IFN-β ( 38 , 39 ).…”

Section: Clinical Featuresmentioning

confidence: 85%

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

Torrelo

2017

Front. Immunol.

104

View full text Add to dashboard Cite

CANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare, genetic autoinflammatory disease due to abnormal functioning of the multicatalytic system proteasome–immunoproteasome. Several recessive mutations in different protein subunits of this system, located in one single subunit (monogenic, homozygous, or compound heterozygous) or in two different ones (digenic and compound heterozygous), cause variable defects in catalytic activity of the proteasome–immunoproteasome. The final result is a sustained production of type 1 interferons (IFNs) that can be very much increased by banal triggers such as cold, stress, or viral infections. Patients start very early in infancy with recurrent or even daily fevers, characteristic skin lesions, wasting, and a typical fat loss, all conferring the patients a unique and unmistakable phenotype. So far, no treatment has been effective for the treatment of CANDLE syndrome; the JAK inhibitor baricitinib seems to be partially helpful. In this article, a review in depth all the pathophysiological, clinical, and laboratory features of CANDLE syndrome is provided.

show abstract

Section: Clinical Featuresmentioning

confidence: 85%

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

Torrelo

2017

Front. Immunol.

104

View full text Add to dashboard Cite

show abstract

“…The etiology is unknown but similar to other CTP, and both autoinflammatory and autoimmune etiologies have been suggested, with putative infectious triggers. 24 We believe that ALA falls under the spectrum of a dysimmune disease, with a presumed immunemediated etiology initiated by an external trigger.…”

Section: Discussionmentioning

confidence: 96%

Annular lipoatrophy of the ankle: Four new pediatric cases and a review of the literature

Touhouche

Tournier

Lamant

et al. 2021

Pediatric Dermatology

View full text Add to dashboard Cite

Annular lipoatrophy of the ankle (ALA) is a rare acquired lipoatrophic panniculitis first reported in 1953 by Ferreira-Marques by the name lipoatrophia annularis 1 and then described by Winkelmann as connective tissue panniculitis (CTP), 2 but it would appear that ALA is a more localized form of CTP. 3 It mainly affects children who are otherwise healthy but may present with autoimmune diseases 3-5 and has a stereotyped presentation, starting with inflammatory nodules or plaques around the ankles which progress into circumferential subcutaneous atrophy within a few months. There is no consensus on treatment, and long-term outcomes are poorly documented. We present four new cases of childhood ALA, including a patient with an extended follow-up of more than 10 years. | C A S E REP ORTSFour children (two boys and two girls), aged between 5 and 9 years, were diagnosed with ALA. All were otherwise healthy. Their characteristics are presented in Table 1. ALA has a classic history starting with inflammatory nodules or plaques around the ankles and calves evolving over months to subcutaneous atrophy. Some had triggering events, such as Patient 1 (Figure 1) who reported the appearance of lesions after wearing a new pair of high-top shoes that may have caused local trauma. All had a classic history of ALA except for Patient 2, who reported no initial inflammatory stage. Only, Patient 1 reported initial debilitating symptoms (severe cramps and myalgia).The lesions were located on the lower extremities for all patients except for Patient 3 (Figure 2), who had mild lesions on the buttocks.

show abstract

“…Lipidised giant cells are usually seen in the conditions called "lipophagic panniculitis of children" and "annular lipoatrophy of the ankles". Several cases have been linked to autoimmune disorders: insulin-dependent diabetes mellitus, juvenile rheumatoid arthritis, Graves' disease, Hashimoto thyroiditis, alopecia areata, vitiligo, coeliac disease, Raynaud's phenomenon, Crohn's disease, and partial IgA deficiency [30].…”

Section: Histopathologymentioning

confidence: 99%

Panniculitis in Children

Moulonguet

Fraïtag

2021

Dermatopathology

View full text Add to dashboard Cite

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.

show abstract

Recurrent lipoatrophic panniculitis of children

Abstract: We present five cases of lobar panniculitis and lipoatrophy in childhood. The clinico-pathologic presentation shares features with other autoinflammatory diseases.

Cited by 21 publications

References 26 publications

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

Annular lipoatrophy of the ankle: Four new pediatric cases and a review of the literature

Panniculitis in Children

Contact Info

Product

Resources

About