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Pediatric Dermatology May 2020Lipoatrophic panniculitis (LP) is a rare childhood panniculitis characterized by sclerotic, atrophic plaques on the extremities. We present a case of LP diagnosed during...
Lipoatrophic panniculitis (LP) is a rare childhood panniculitis characterized by sclerotic, atrophic plaques on the extremities. We present a case of LP diagnosed during the inflammatory phase that was difficult to distinguish clinically from eosinophilic fasciitis. This report adds to the limited phenotypic spectrum of LP by differentiating the clinical features of disease activity from disease damage and highlighting the importance of biopsy in establishing a diagnosis.
Topics: Adolescent; Atrophy; Biopsy; Child; Connective Tissue Diseases; Humans; Panniculitis
PubMed: 32198786
DOI: 10.1111/pde.14127 -
British Journal of Haematology Jul 2023Frequent germline mutations of HAVCR2, recently identified in subcutaneous panniculitis-like T-cell lymphoma (SPTCL), are associated with an increased risk of...
Frequent germline mutations of HAVCR2, recently identified in subcutaneous panniculitis-like T-cell lymphoma (SPTCL), are associated with an increased risk of hemophagocytic lymphohistiocytosis (HLH). However, SPTCL-HLH represents a challenge because of the difficulties in treatment with poor survival. Its malignant nature, specifically harbouring HAVCR2 mutations, has also been questioned. To better understand its pathology and treatment, we analysed the clinical data of six patients diagnosed at our centre. The median age at onset was 10.5 years (range, 0.8-12.4). Five patients presented with skin lesions of subcutaneous nodules/plaques and/or ulceration. All patients developed HLH; notably, one infant only had HLH without skin involvement. Histopathologically, only two patients were diagnosed with SPTCL and three were reported as panniculitis with no sufficient evidence of lymphoma. Genetically, germline homozygous mutation of HAVCR2 (p.Y82C) was identified in all patients, with a median diagnosis time of 4.6 months. All patients initially received corticosteroids, immunosuppressants or chemotherapy, achieving unfavourable responses. Strikingly, they responded well to ruxolitinib targeting inflammatory cytokines, allowing rapid disease resolution and/or long-term maintenance of remission. The excellent efficacy of ruxolitinib highlights this disease as an inflammatory condition instead of neoplastic nature and indicates novel agents targeting key inflammatory pathways as an encouraging approach for this disease entity.
Topics: Child; Child, Preschool; Humans; Infant; Germ-Line Mutation; Hepatitis A Virus Cellular Receptor 2; Lymphohistiocytosis, Hemophagocytic; Panniculitis
PubMed: 37062931
DOI: 10.1111/bjh.18817 -
Journal of Gastrointestinal and Liver... Jun 2023A 67-year-old man with previous cardiovascular disease was referred to our consultation due to a 5-month history of recurrent epigastric pain. Esophagogastroduodenoscopy...
A 67-year-old man with previous cardiovascular disease was referred to our consultation due to a 5-month history of recurrent epigastric pain. Esophagogastroduodenoscopy and full blood workup presented no alterations. CT scan showed an irregularly shaped mass at the root of the mesentery, measuring 40x25x47mm, with spiculated contours and retractile behaviour (a). Simultaneous densification of the adjacent fat and infracentimetric ganglionic formations scattered throughout the mesentery were shown. Surgical biopsy revealed extensive storiform fibrosclerosis, with the presence of interstitial lymphoplasmocytic infiltrate and obliterative phlebitis (b); the plasma cells had mostly IgG expression, with IgG4:IgG ratio >40% (c), accounting for more than 30- 40 IgG4 plasma cells per field. The serum IgG4 level was 137mg/dL. A diagnosis of IgG4-related sclerosing mesenteritis was made, without other organ involvement. Prednisolone (0.6mg/kg/d) improved partially the abdominal pain, so steroid sparing strategy with off-label rituximab was associated. Due to its low prevalence, the understanding of this entity is scarce, and its diagnosis is challenging. Unlike other manifestations of IgG4-related disease, the intra-abdominal disease is identified in later stages, due to unspecific symptoms. This case aims to raise awareness about this condition as a differential diagnosis of abdominal pain.
Topics: Male; Humans; Aged; Panniculitis, Peritoneal; Immunoglobulin G; Prednisolone; Abdominal Pain; Mesentery
PubMed: 37345601
DOI: 10.15403/jgld-4921 -
Internal Medicine (Tokyo, Japan) Feb 2020A 72-year-old man was followed as an outpatient at our hospital for 6 years after surgery for small cell carcinoma of left adrenal gland origin. Follow-up abdominal...
A 72-year-old man was followed as an outpatient at our hospital for 6 years after surgery for small cell carcinoma of left adrenal gland origin. Follow-up abdominal computed tomography showed a 6-cm mass in the left lower mesentery. The patient underwent open laparotomy. The histological diagnosis was sclerosing mesenteritis. The previous specimens of the left adrenal mass were then re-examined with a microscope, and panniculitis was found around the small cell carcinoma. Both lesions were histologically similar to IgG4-related disease (RD), but they did not completely meet the diagnostic criteria of IgG4-RD clinically or histologically.
Topics: Adult; Aged; Aged, 80 and over; Child; Diagnosis, Differential; Female; Humans; Immunoglobulin G4-Related Disease; Laparotomy; Male; Mesentery; Middle Aged; Molecular Mimicry; Panniculitis, Peritoneal; Tomography, X-Ray Computed
PubMed: 31708540
DOI: 10.2169/internalmedicine.3221-19 -
Dermatologic Therapy Nov 2022This study aimed to investigate the relationship between centrifugal lipodystrophy (CLD) and lupus erythematosus panniculitis (LEP), and the efficacy and safety of...
This study aimed to investigate the relationship between centrifugal lipodystrophy (CLD) and lupus erythematosus panniculitis (LEP), and the efficacy and safety of hydroxychloroquine (HCQ) for treating CLD in children. A total of 29 cases clinically diagnosed as CLD (n = 24) and CLD/LEP overlap (n = 5) were enrolled and all were confirmed by skin biopsies of CLD and LEP. The clinicopathological findings, clinical outcomes, and prognosis with the treatment of HCQ between CLD and LEP were compared. All 29 cases (male: female = 1:1.6; median age at onset: 3 years) had cutaneous lesions of centrifugally expanding lipoatrophy, of which five cases overlapped with LEP lesions presented as erythematous indurated plaque (n = 2), subcutaneous nodules (n = 2) and alopecia along Blaschko's lines (n = 1). Antinuclear antibodies were found in six (25.0%) CLD and two (40.0%) overlapped patients (p = 0.597). Histopathologically, of the 24 cases of CLD, 14 (58.5%) exhibited subcutis loss or mild lobular inflammation. Ten (41.7%) cases displayed lobular panniculitis with moderate to dense lymphohistiocytic infiltrate and plasma cells, similar to the five cases of overlap. Small clusters of CD123 positive plasmacytoid dendritic cells were found in 62.5% (5/8) of CLD and 66.7% (2/3) of overlap cases (p > 0.99). HCQ (5 mg/kg/d) treatment showed improvement in 91.3% (21/23) of CLD and all overlap cases, including four cases unresponsive to previous oral glucocorticosteroid treatment. Our findings suggested that CLD and LEP represent a spectrum within the same disease. HCQ (5 mg/kg/d) was effective and safe for treating CLD (age >1.5 years), and early treatment and a regular long-term follow-up are essential.
Topics: Child; Humans; Male; Female; Infant; Panniculitis, Lupus Erythematosus; Hydroxychloroquine; Panniculitis; Lipodystrophy; Alopecia
PubMed: 36100983
DOI: 10.1111/dth.15825 -
JAMA Dermatology Apr 2023
Topics: Humans; Scalp; Panniculitis, Lupus Erythematosus
PubMed: 36790778
DOI: 10.1001/jamadermatol.2022.5631 -
International Journal of Dermatology Apr 2021Panniculitis, or inflammation of the fatty tissue, is an ongoing diagnostic challenge to both dermatologists and pathologists. The basis of the current panniculitis... (Review)
Review
Panniculitis, or inflammation of the fatty tissue, is an ongoing diagnostic challenge to both dermatologists and pathologists. The basis of the current panniculitis classification is histology, whether the inflammation is mainly located in the fibrovascular septa or in the adipose lobules thereafter with or without vasculitis. However, overall, the difficulty rises due to various terminologies and lack of clinical relevance with this classification. In addition to that, the majority of panniculitides have mixed infiltration of both lobular and septal and not a clear-cut distinction. The aim of this article is to provide a novel clinical algorithm to the diagnosis of panniculitis and thus to provide guidelines for all clinicians who may encounter this challenging condition in their clinical practice.
Topics: Adipose Tissue; Humans; Inflammation; Panniculitis; Vasculitis
PubMed: 33040341
DOI: 10.1111/ijd.15224 -
Italian Journal of Dermatology and... Feb 2022
Topics: Humans; Panniculitis; Skin; Stress Disorders, Post-Traumatic; Survivors; Torture
PubMed: 33890731
DOI: 10.23736/S2784-8671.21.06868-7 -
COPD Jun 2020Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood...
Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood genetic risk factor for the development of chronic obstructive pulmonary disease (COPD). The diagnosis of A1AD is under-recognized. While there is a significant heterogeneity in disease presentation in relation to the severity of symptoms and prognosis, it is not uncommon for young individuals, including pregnant women to already have moderate to advanced lung disease at the time of diagnosis. Reductions in AAT levels may have unique implications for a gravid patient beyond that of lung disease. Care of the pregnant A1AD patient with chronic lung disease follows the principles of care for the management of airways disease in general with control of symptoms and reduction in exacerbation risk the main tenets of treatment. The effect of A1AD and augmentation in pregnancy has not been studied and thus care is reliant on expert opinion and clinical experience. Providers caring for pregnant patients with A1AD should consider referral to health care systems and providers with specific expertise in A1AD. Ultimately the decision is left to the individual patient and their physician to weigh the risk benefit of cessation or continuation of therapies. In this review, we present the perinatal course of a woman with A1AD and review the available literature pertaining to AAT and pregnancy and discuss the clinical implications.
Topics: Acetates; Adult; Anti-Asthmatic Agents; Budesonide, Formoterol Fumarate Drug Combination; Cyclopropanes; Female; Forced Expiratory Volume; Humans; Panniculitis; Phenotype; Pregnancy; Pregnancy Complications; Pulmonary Diffusing Capacity; Pulmonary Emphysema; Quinolines; Spirometry; Sulfides; Trypsin Inhibitors; alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency
PubMed: 32308050
DOI: 10.1080/15412555.2020.1754778 -
Giornale Italiano Di Dermatologia E... Oct 2020Type I interferonopathies are a clinically heterogeneous group of inherited disorders of the innate immune system characterized by constitutive activation of the type I... (Review)
Review
Type I interferonopathies are a clinically heterogeneous group of inherited disorders of the innate immune system characterized by constitutive activation of the type I interferon signaling pathway. Cutaneous vasculopathy, lipodystrophy, interstitial lung disease and brain calcifications are the typical manifestations characterizing affected patients. The pathogenic mechanism commonly underlying these disorders is the abnormal activation of immune pathways involved in recognition of non-self-oligonucleotides. These natural defenses against virus consent humans to survive the infections. Target therapies capable of inhibiting type I interferon signaling pathway seem effective in these patients, albeit with possible incomplete responses and severe side effects.
Topics: Chilblains; Humans; Interferon Type I; Mutation; Panniculitis; Vascular Diseases
PubMed: 32618445
DOI: 10.23736/S0392-0488.20.06709-7