Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle

Pasqualini, Claudia; Jorini, Mauro; Carloni, Ines; Giangiacomi, Mirella; Cetica, Valentina; Benedictis, Fernando Maria de

doi:10.1186/1824-7288-40-17

Cited by 16 publications

(12 citation statements)

References 27 publications

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“…They were biallelic in the first case, monoallelic in the second one ( 139 ). Pasqualini et al recently reported an 11-year-old boy with a history of secondary HLH who developed cytophagic histiocytic panniculitis, in whom mutation analysis showed monoallelic missense mutation of the STX11 gene ( 140 ).…”

Section: Variant Phenotypes Recognized In Association With Partial Cymentioning

confidence: 99%

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

et al. 2014

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The human immune system depends on the activity of cytotoxic T lymphocytes (CTL), natural killer (NK) cells, and NKT cells in order to fight off a viral infection. Understanding the molecular mechanisms during this process and the role of individual proteins was greatly improved by the study of familial hemophagocytic lymphohistiocytosis (FHL). Since 1999, genetic sequencing is the gold standard to classify patients into different subgroups of FHL. The diagnosis, once based on a clinical constellation of abnormalities, is now strongly supported by the results of a functional flow-cytometry screening, which directs the genetic study. A few additional congenital immune deficiencies can also cause a resembling or even identical clinical picture to FHL. As in many other rare human disorders, the collection and analysis of a relatively large number of cases in registries is crucial to draw a complete picture of the disease. The conduction of prospective therapeutic trials allows investigators to increase the awareness of the disease and to speed up the diagnostic process, but also provides important functional and genetic confirmations. Children with confirmed diagnosis may undergo hematopoietic stem cell transplantation, which is the only cure known to date. Moreover, detailed characterization of these rare patients helped to understand the function of individual proteins within the exocytic machinery of CTL, NK, and NKT cells. Moreover, identification of these genotypes also provides valuable information on variant phenotypes, other than FHL, associated with biallelic and monoallelic mutations in the FHL-related genes. In this review, we describe how detailed characterization of patients with genetic hemophagocytic lymphohistiocytosis has resulted in improvement in knowledge regarding contribution of individual proteins to the functional machinery of cytotoxic T- and NK-cells. The review also details how identification of these genotypes has provided valuable information on variant phenotypes.

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Section: Variant Phenotypes Recognized In Association With Partial Cymentioning

confidence: 99%

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

et al. 2014

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“…Its clinical course is variable depends on degree of severity. Some patients developed chronicity having recurring bouts over the course of their illness and surviving for years [14–16]. In others, it can rapidly progress resulting in the demise of the patients from sepsis and multiorgan failure [2, 13, 17].…”

Section: Discussionmentioning

confidence: 99%

Cytophagic Histiocytic Panniculitis (CHP) in a Patient with SLE Found after Autopsy: When a Rash Is “Complicated!”

Abbas

Aslam

Saad³

et al. 2019

Case Reports in Dermatological Medicine

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Introduction. Cytophagic histolytic panniculitis (CHP) is a clinical disorder characterized by nodular panniculitis of the subcutaneous adipose tissue. It was first described in 1980 by Winkelmann. Histologically it is described as an infiltration of the adipose tissue by T- lymphocytes and phagocytic macrophages (also known as “bean bag cells”). Most of the cases are reported under the age of 50 and is a rare cause of panniculitis. We report a case of CHP in a young patient who presented to our emergency room (ER). Case Summary. A 39-year-old African American woman who presented to our hospital with lethargy, progressive confusion, and generalized rash involving both lower extremities of 1 week duration. She had a history of pancytopenia and focal proliferative and membranous lupus nephritis classes 3 and 5. Her physical examination was remarkable for bilateral lower extremity pitting edema and a desquamating rash on both of her legs. The Nicolsky sign was positive. She was noted to be hypotensive and was started on intravenous fluids and broad spectrum antibiotics. Routine laboratory tests revealed severe pancytopenia, with a hemoglobin of 3.9 g/dl, white blood cell count 600/ul, and platelet count of 11000/ul. Within an hour of arrival to the ER she developed acute respiratory failure. She was intubated and placed on mechanical ventilation. She developed shock requiring vasopressors. No imaging could be done due to her unstable condition. Four hours after her initial presentation she developed asystole and expired. Postmortem histopathology of the adipose tissue revealed CHP. Conclusion. CHP can be rapidly fatal. The treatment involves high dose of intravenous steroids and immunosuppressants such as cyclosporine.

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“…Reports in the literature indicate that the clinical presentation of T-cell cutaneous lymphoma may suggest an autoimmune process, and reliable verification of the diagnosis can only be obtained through histopathological analysis [11]. Pasqualini et al presented a case in which subcutaneous tissue inflammation was an initial sign of haemophagocytic lymphohistiocytosis [12].…”

Section: Discussionmentioning

confidence: 99%

Panniculitis in an 11-year-old girl – symptom of cat scratch disease or systemic lupus erythematosus onset?

Świdrowska¹,

Biernacka-Zielińska²,

Zygmunt³

et al. 2014

Reumatologia

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Key words: systemic lupus erythematosus, panniculitis, cat scratch disease.Słowa kluczowe: toczeń rumieniowaty układowy, zapalenie tkanki podskórnej, choroba kociego pazura. S t r e s z c z e n i ePanniculitis, czyli zapalenie tkanki podskórnej, obejmuje zmiany zapalne tkanki podskórnej o różnej etiologii. Może towarzyszyć wielu schorzeniom ogólnoustrojowym, pojawia się często u pacjentów z układowymi zapalnymi chorobami tkanki łącznej. Najczęściej obserwuje się je w przebiegu tocznia rumieniowatego krążkowego (2-3% pacjentów), rzadziej w postaci układowej tocznia. Zapalenie tkanki podskórnej może być jednak pierwszym objawem poprzedzającym rozwój choroby. W pracy przedstawiono przypadek pacjentki z ciężkim przebiegiem zapalenia tkanki podskórnej. U chorej obserwowano bolesną, zlokalizowaną na bocznej powierzchni uda zmianę skórną. Występowały uogólnione objawy, takie jak hektyczna gorączka, splenomegalia, limfadenopatia. Dodatkowo w badaniach laboratoryjnych stwierdzono dodatnie miano przeciwciał diagnostycznych dla wielu chorób infekcyjnych, w tym choroby kociego pazura. Pomimo agresywnej antybiotykoterapii oraz terapii przeciwzapalnej nie obserwowano zadowalających efektów. Z uwagi na całość obrazu oraz dodatni wywiad rodzinny w kierunku tocznia rumieniowatego podjęto próbę steroidoterapii, co przyniosło efekt kliniczny. Address for correspondence:Joanna Świdrowska, Department of Pediatric Cardiology and Rheumatology, Sporna 36/50, 91-738 Łodz, Poland, e-mail: j.swidrowska@gazeta.pl Submitted: 26.05.2014 S u m m a r yPanniculitis is defined as an inflammation of the subcutaneous tissue of varying aetiology. It may appear in many systemic diseases, and often occurs in patients suffering from systemic inflammatory connective tissue diseases. It is observed mainly in the course of lupus erythematosus discoides (2-3% of patients), but it may be an early symptom of developing the systemic form of lupus erythematosus. In this paper we present a case of a patient with a severe course of panniculitis manifested as a painful, tough and warm skin lesion on the side of the thigh. It was accompanied by systemic symptoms, such as hectic fever, splenomegaly, and lymphadenopathy. In addition, tuberculosis, Lyme disease, salmonellosis and cat scratch disease antibodies were found positive. Despite aggressive antibiotic and anti-inflammatory therapy, there were no satisfactory results. Steroid therapy was attempted (pulses, followed by oral doses of methylprednisolone), which resulted in an effective clinical outcome.

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Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle

Cited by 16 publications

References 27 publications

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

Cytophagic Histiocytic Panniculitis (CHP) in a Patient with SLE Found after Autopsy: When a Rash Is “Complicated!”

Panniculitis in an 11-year-old girl – symptom of cat scratch disease or systemic lupus erythematosus onset?

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