-
CMAJ : Canadian Medical Association... Apr 2021
Topics: Acrodermatitis; Diaper Rash; Diarrhea; Dietary Supplements; Humans; Infant; Male; Zinc
PubMed: 33903138
DOI: 10.1503/cmaj.201181-f -
Clinical Reviews in Allergy & Immunology Dec 2023Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant... (Review)
Review
Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases encompassing entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process. Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), NLRP1 (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of JAK1, POMP, and EGFR). This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
Topics: Humans; Psoriasis; Inflammation; Mutation; Immunity, Innate; Keratosis; Guanylate Cyclase; Membrane Proteins; CARD Signaling Adaptor Proteins; Interleukins
PubMed: 38103162
DOI: 10.1007/s12016-023-08971-3 -
Postepy Dermatologii I Alergologii Apr 2023Recent years have seen a growing interest in a healthy lifestyle, particularly nutrition. An important component of a balanced diet is the microelement content. Zinc is... (Review)
Review
Recent years have seen a growing interest in a healthy lifestyle, particularly nutrition. An important component of a balanced diet is the microelement content. Zinc is the second most abundant trace element, after iron. It has antioxidant and immunomodulatory functions, and plays important roles in the pathogenesis of various diseases, including dermatoses. Individuals with a zinc deficiency may present with nonspecific erythematous, pustular, erosive, and bullous lesions as well as alopecia, nail dystrophy, and a variety of systemic symptoms. Any individual assessment of zinc levels should consider risk factors for deficiency, clinical symptoms, type of diet, and results of laboratory analyses. Recent research has shed light on the systemic and topical effects of zinc, indicating the value of its supplementation for many conditions.
PubMed: 37312919
DOI: 10.5114/ada.2023.127639 -
Diagnostics (Basel, Switzerland) Sep 2022Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as... (Review)
Review
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, STAT5B deficiency, Omenn syndrome, atypical complete DiGeorge syndrome; metabolic disorders such as acrodermatitis enteropathy, multiple carboxylase deficiency, prolidase deficiency; and other rare syndromes like severe dermatitis, multiple allergies and metabolic wasting syndrome, Netherton syndrome, and peeling skin syndrome frequently perform with eczema-like lesions. These genodermatosis may be misguided in the context of eczematous phenotype. Misdiagnosis of severe disorders unavoidably affects appropriate treatment and leads to irreversible outcomes for patients, which underlines the importance of molecular diagnosis and genetic analysis. Here we conclude clinical manifestations, molecular mechanism, diagnosis and management of several eczema-related genodermatosis and provide accessible advice to physicians.
PubMed: 36140582
DOI: 10.3390/diagnostics12092177 -
Ugeskrift For Laeger Nov 2021
Topics: Acrodermatitis; Erythema Chronicum Migrans; Humans; Lyme Disease; Skin Diseases, Bacterial
PubMed: 34796862
DOI: No ID Found -
Italian Journal of Dermatology and... Feb 2021Hepatotropic viral infections are a relevant global health problem and present multiple extrahepatic manifestations in addition to hepatic disease. Along with generic... (Review)
Review
Hepatotropic viral infections are a relevant global health problem and present multiple extrahepatic manifestations in addition to hepatic disease. Along with generic cutaneous symptoms correlated to the cholestatic liver disease that may arise during the infection, some cutaneous manifestations of hepatotropic viral infections are characteristic, enabling to suspect the underlying infection. This review will present the principal cutaneous manifestations of hepatotropic virus infection. Cutaneous manifestations are rare in HAV infections: these include urticaria, panniculitis, scarlatiniform eruption, evanescent skin rash, maculopapular prolonged rash, serum sickness-like illness rash, cutaneous vasculitis, cryoglobulinemia. The commonest cutaneous manifestation associated to HBV infection is serum sickness-like syndrome. Polyarteritis nodosa (PAN) is among the most common and serious cutaneous manifestations of HBV infection. In children, HBV infection may acutely manifest as papular acrodermatitis of childhood (Gianotti-Crosti Syndrome), with non-pruritic, non-coalescing, round papules. Patients with chronic HBV infection may also develop mixed cryoglobulinemia, that is, inter alia, the most documented extrahepatic manifestation of HCV infection. Cutaneous lichen planus has been associated to HBV and HCV infection. As for oral lichen planus, the association with HBV and HCV is more debated. Interestingly, patients with oral lichen planus with HCV have a higher risk of developing oral squamous cell carcinoma. Dermatologists should be aware of the possible cutaneous manifestations associated to viral hepatitis.
Topics: Carcinoma, Squamous Cell; Hepatitis B virus; Hepatitis C; Humans; Mouth Neoplasms; Skin Diseases
PubMed: 31804053
DOI: 10.23736/S2784-8671.19.06488-5 -
Indian Journal of Dermatology,...Pustular psoriasis is a distinct subset of psoriasis that presents with involvement of the skin in the form of sterile pustules along with systemic manifestations.... (Review)
Review
Pustular psoriasis is a distinct subset of psoriasis that presents with involvement of the skin in the form of sterile pustules along with systemic manifestations. Though it has been conventionally grouped under the umbrella of psoriasis, recent research has shed light on its pathogenetic mechanisms associated with the IL-36 pathway, which is distinct from conventional psoriasis. Pustular psoriasis in itself is a heterogeneous entity consisting of various subtypes, including generalised, localised, acute, and chronic forms. There is confusion regarding its current classification as entities like deficiency of IL-36 antagonist (DITRA) which are closely related to pustular psoriasis both in their pathogenetic mechanism and its clinical manifestations, are not included under pustular psoriasis. Entities like palmoplantar pustulosis, which presents with similar clinical features but is pathogenetically distinct from other forms of pustular psoriasis, are included under this condition. Management of pustular psoriasis depends upon its severity; while some of the localised variants can be managed with topical therapy alone, the generalised variants like Von Zumbusch disease and impetigo herpetiformis may need intensive care unit admission and tailor-made treatment protocols. The advent of newer biologics and better insight into the pathogenesis of pustular psoriasis has opened the way for newer therapies, including tumour necrosis factor-alpha inhibitors, interleukin-1 inhibitors, interleukin-17 inhibitors, and granulocyte monocyte apheresis. It continues to be an enigma whether pustular psoriasis is actually a variant of psoriasis or an entirely different disease entity, though we feel that it is an entirely different disease process.
Topics: Humans; Psoriasis; Skin; Interleukins; Biological Products
PubMed: 37317717
DOI: 10.25259/IJDVL_542_2022 -
Journal of the European Academy of... Sep 2022Acral pustular disease within the pustular psoriasis/psoriasis-like spectrum mainly includes palmoplantar pustulosis (PPP) and acrodermatitis continua of Hallopeau...
BACKGROUND
Acral pustular disease within the pustular psoriasis/psoriasis-like spectrum mainly includes palmoplantar pustulosis (PPP) and acrodermatitis continua of Hallopeau (ACH). Scarce data argue for a distinction between these two entities, but no study has compared the clinical and epidemiologic characteristics of ACH and PPP.
OBJECTIVES
We aimed to perform a comparative description of the epidemiological and clinical characteristics of PPP and ACH in a multicentre retrospective cohort.
METHODS
In this multicentre national retrospective cohort study, we compared the epidemiological characteristics, comorbidities and psoriasis characteristics of patients with PPP and ACH.
RESULTS
A total of 234 patients were included: 203 (87%) with PPP, 18 (8%) with ACH and 13 (6%) with both, according to 2017 ERASPEN criteria. As compared with ACH, PPP was associated with female sex, smoking activity and higher median BMI (P = 0.01, P = 0.02 and P = 0.05 respectively). A family background of psoriasis was more frequent in PPP than ACH. Age of onset of palmoplantar disease was similar between PPP and ACH patients, median age 44 and 48 years respectively. Peripheral joint inflammatory involvement was the only rheumatic disease associated with ACH. The association with another psoriasis type was similar in PPP and ACH (57.6% and 61.1% respectively).
CONCLUSION
Our study confirms in a large PPP cohort the predominance of females and a high prevalence of smoking and elevated body mass index but also shows an association of these features in PPP as compared with ACH. In addition, it highlights peripheral arthritis as the only arthritis endotype associated with ACH. Increased knowledge of the immunogenetic backgrounds underlying these two entities is warranted to better stratify pustular psoriasis or psoriasis-like entities for precision medicine.
Topics: Acrodermatitis; Adult; Arthritis; Demography; Female; Humans; Male; Middle Aged; Primary Immunodeficiency Diseases; Psoriasis; Retrospective Studies; Skin Diseases, Vesiculobullous
PubMed: 35366356
DOI: 10.1111/jdv.18127 -
Allergologie Select 2023Tick bite-induced IgE-mediated reactions to the oligosaccharide galactose α-1,3-galactose (alpha-gal) are increasingly recognized. This study investigated alpha-gal...
BACKGROUND
Tick bite-induced IgE-mediated reactions to the oligosaccharide galactose α-1,3-galactose (alpha-gal) are increasingly recognized. This study investigated alpha-gal sensitization in three groups with different tick bite exposure.
MATERIALS AND METHODS
Specific IgE antibodies to alpha-gal and total IgE were investigated in 485 patients with Lyme borreliosis with different disease manifestations and compared to a control group of 200 randomly selected patients without increased exposure to tick bites. A group of 232 hunters and forest workers served as a model for multiple tick bites.
RESULTS
Specific IgE (sIgE) antibodies to alpha-gal (> 0.1 kU/L) were found in 12.6% of all borreliosis samples compared to the control group with 9% (relative risk 1.4; 95% CI 0.85 - 2.3; not significant (n.s.). The highest prevalence of sIgE to alpha-gal was observed in hunters and forest service employees (22.8%, relative risk 2.5; 95% CI 1.5 - 4.2; p < 0.001). Higher age and elevated total IgE were also associated with alpha-gal sensitization.
CONCLUSION
IgE sensitization to alpha-gal tends to be more frequent in tick-exposed patients with borreliosis than in controls (n.s.). Moreover, hunters and forest workers show an even higher rate of elevated IgE to alpha-gal. Thus, frequent tick contact may result in alpha-gal sensitization. In the area of Munich, the prevalence of alpha-gal sensitization appears lower than in the state of Baden-Württemberg and lower than in the USA, which may be due to the difference in tick species or the frequency of tick exposure. This study could show that alpha-gal sensitization and presumably alpha-gal syndrome does not seem to be a modern problem but existed already more than 30 years ago.
PubMed: 37705677
DOI: 10.5414/ALX02424E -
BMJ Case Reports Apr 2021Gianotti-Crosti syndrome (GCS) is a self-limited condition, mainly affecting children younger than 6 years, less common in adolescents and adults. It consists of a viral...
Gianotti-Crosti syndrome (GCS) is a self-limited condition, mainly affecting children younger than 6 years, less common in adolescents and adults. It consists of a viral exanthema with papular lesions with a flat top and symmetrical distribution, affecting predominantly extremities, gluteal region and extensor surfaces. It is often associated with viral infections but can also be related to bacterial infections, vaccination or be idiopathic. In this report, we present a case of GCS in a 13-year-old healthy female adolescent who presented with fever, odynophagia, prostration and diffuse maculopapular rash. The diagnosis of infectious mononucleosis due to infection by the Epstein-Barr virus was established. On the second week of the disease, a clinical recrudescence occurred, with worsening of the fever and modification of the exanthema characteristics. GCS is often an underdiagnosed entity. The differential diagnosis of viral exanthema can prove to be challenging and clinical suspicion is essential to achieve the diagnosis.
Topics: Acrodermatitis; Adolescent; Child; Epstein-Barr Virus Infections; Exanthema; Female; Herpesvirus 4, Human; Humans; Infectious Mononucleosis
PubMed: 33795277
DOI: 10.1136/bcr-2020-240747