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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 -
Jornal de Pediatria Apr 2024This study aims to evaluate the characteristics and treatment response of patients with pityriasis lichenoides seen in the last 43 years in a pediatric dermatology...
OBJECTIVES
This study aims to evaluate the characteristics and treatment response of patients with pityriasis lichenoides seen in the last 43 years in a pediatric dermatology service.
METHODS
This was a retrospective, analytical, longitudinal study of patients under 15 years of age. The medical records were reviewed and data were presented as frequencies, means and variances. Student's t-test, Mann-Whitney test, Fisher's exact test, Pearson/Yates chi-square test and multivariate logistic regression model were used, with p < 0.05 considered.
RESULTS
41 patients were included, 32 (78.0%) with pityriasis lichenoides chronica (PLC), five (12.2%) with pityriasis lichenoides et varioliformis acuta (PLEVA) and four (9.8%) with clinical PLC without biopsy. The age range of school children and adolescents was 19 (46.3%) and 13 (31.7%) respectively and 27 (65.8%) were male. Two peaks of the highest frequency were observed between 2004 and 2006 (10 patients - 24.4%) and another between 2019 and 2021 (6 patients - 14.7%). There was remission in 71.9% (n = 23), with 56.6% (n = 17) of those who used antibiotic therapy and 80% (n = 4) of those who had phototherapy. The chance of remission was 13 times greater in patients with disease onset after 5 years of age.
CONCLUSIONS
The clinical form most commonly found was PLC mainly in school children and adolescents. The frequency peaks coincided with infectious outbreaks. The remission rate was satisfactory with antibiotic therapy, but higher with phototherapy. Remission was greater in patients with disease onset after 5 years of age.
PubMed: 38677323
DOI: 10.1016/j.jped.2024.03.011 -
Human Pathology Oct 2023Eosinophils are known to be present in inflammatory skin diseases, but their diagnostic utility is not well established. Upon review of the published status of lesional...
Eosinophils are known to be present in inflammatory skin diseases, but their diagnostic utility is not well established. Upon review of the published status of lesional eosinophils, several categories were identified. 1) Lesional eosinophils highly characteristic such that, in their absence, the pathologist may question the diagnosis. These include arthropod bite reactions and scabies, urticarial dermatitis, and other eosinophilic dermatoses. 2) Lesional eosinophils rare or absent, such that, in their presence, the pathologist may question the diagnosis. These include pityriasis lichenoides, graft versus host disease, and connective tissue disorders. 3) Lesional eosinophils variable and, while in some cases expected, are not required for diagnosis. These include drug reactions, atopic dermatitis and allergic contact dermatitis. 4) Lesional eosinophils variable and not expected but may be seen to a limited extent. These include lichen planus and psoriasis.
Topics: Humans; Eosinophils; Diagnosis, Differential; Psoriasis; Lichen Planus; Dermatitis, Atopic; Skin; Skin Diseases
PubMed: 37003367
DOI: 10.1016/j.humpath.2023.03.017 -
Dermatology Reports Mar 2024In the wake of a global COVID-19 pandemic, where innovations in vaccination technology and the speed of development and distribution have been unprecedented, a wide...
In the wake of a global COVID-19 pandemic, where innovations in vaccination technology and the speed of development and distribution have been unprecedented, a wide variety of post-vaccination cutaneous reactions have surfaced. However, there has not been a systematic review that investigates pityriasis eruptions and the associated variants following COVID-19 inoculations. A PubMed search using was performed to find case reports from the earliest record through November 2022. Data including types of vaccination and pityriasis were extracted and a quality review was performed; 47 reports with 94 patients were found: 64.9% had pityriasis rosea (PR), 3.2% PR-like eruptions, 16.0% pityriasis rubra pilaris, 7.4% pityriasis lichenoides et varioliformis acuta, 3.2% pityriasis lichenoides chronica, and 5.3% had reactions described as . The top three COVID-19 vaccinations reported were Pfizer-BioNTech (47.9%), Oxford-AstraZeneca (11.7%), and Moderna (8.5%). Pityriasis reactivity was reported most frequently after the Pfizer-BioNTech vaccination, with pityriasis rosea being the most common variant. A large difference was additionally found between the ratio of post-vaccination pityriasis reactions following Pfizer and Moderna vaccinations (5.63), and the ratio of Pfizer's usage in the United States as of December 28, 2022 relative to that of Moderna (1.59). Further studies with adequate follow-up periods and diagnostic testing will thus need to be performed to elucidate the root of this discrepancy and better characterize the association between different pityriasis reactions and COVID-19 vaccinations.
PubMed: 38623364
DOI: 10.4081/dr.2023.9742 -
Qatar Medical Journal 2023Acute urticaria is urticaria with or without angioedema that is present for less than six weeks, while chronic urticaria is present for more than six weeks. Pityriasis...
BACKGROUND
Acute urticaria is urticaria with or without angioedema that is present for less than six weeks, while chronic urticaria is present for more than six weeks. Pityriasis lichenoides (PL) is a benign cutaneous inflammatory disease of unknown etiology. Acute PL typically resolves within a few weeks, while chronic PL lasts several months. The skin rash of PL may resemble the rash of other conditions, so the distinction is essential and depends on history and physical examination and is confirmed by skin biopsy.
CASE REPORT
A 64-year-old gentleman presented with seven days history of generalized itchy skin (hives). Individual lesions last 24-48 hours and do not leave pigmentation or scarring. No systemic involvement. No specific triggers, with two previous similar episodes 30 years and 20 years ago. Levocetirizine, 5 mg tablet, was prescribed, and he was instructed to increase the dose to 4 tablets daily if needed. On reassessing the patient after ten days, he did not respond well. The rash was different from the initial one, with individual lesions lasting for five days or more, so he was referred to a dermatologist for a skin biopsy. Basic investigations were normal. Performing skin biopsy is needed to exclude other pathologies. Skin biopsy showed pathological changes of lichenoid dermatitis compatible with pityriasis lichenoides et varioliformis acuta (PLEVA). He has been treated with azithromycin 250 mg daily for three weeks with rapid and complete resolution without scaring.
CONCLUSION
Urticarial rash may mimic the skin rash of other conditions. Detailed serial history and physical examination are warranted to exclude other diagnoses. Skin biopsy is needed when diagnosing conditions other than urticaria are suspected.
PubMed: 38025325
DOI: 10.5339/qmj.2023.sqac.7 -
Nagoya Journal of Medical Science Feb 2024Whole-exome and whole-genome sequencing have become widespread in approximately the last 15 years, and the predisposing factors and pathomechanisms of inflammatory... (Review)
Review
Whole-exome and whole-genome sequencing have become widespread in approximately the last 15 years, and the predisposing factors and pathomechanisms of inflammatory keratinization diseases, which have been unknown for a long time, have gradually been revealed. Hence, various inflammatory keratinization diseases are recognized to cause innate immunity hyperactivation. Therefore, we have been advocating for the clinical entity, "autoinflammatory keratinization diseases (AiKDs)" since 2017. AiKDs are inflammatory keratinization diseases caused by autoinflammatory-related pathomechanisms in the skin. The aberrant activation of innate immunity and the resultant autoinflammation in the epidermis and the superficial dermis in AiKDs cause hyperkeratosis in the epidermis. Our initially proposed concept of AiKDs included generalized pustular psoriasis and related conditions, pityriasis rubra pilaris type V, and familial keratosis lichenoides chronica. Since then, the number of diseases known to be AiKDs has increased as previously unknown disease-causing factors and pathogenetic mechanisms of inflammatory keratinization diseases have been clarified one by one. To date, porokeratosis, hidradenitis suppurative, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome, and AiKDs associated with epidermal growth factor receptor (EGFR) deficiency or with hepatitis and autism have been recognized as AiKDs. The concept of AiKDs is considered extremely useful in our precise understanding of the pathogeneses behind inflammatory keratinization diseases and our appropriate treatment method selection. The number of AiKDs is expected to grow with the clarification of the pathomechanisms of further inflammatory keratinization diseases.
Topics: Humans; Keratosis; Skin; Skin Neoplasms; Syndrome
PubMed: 38505726
DOI: 10.18999/nagjms.86.1.1 -
The Eurasian Journal of Medicine Oct 2023
PubMed: 37887072
DOI: 10.5152/eurasianjmed.2023.23026 -
Frontiers in Medicine 2023Since the early 1990s, Ultraviolet (UV) A1 phototherapy has been described as an effective and safe treatment of a multitude of skin disorders. However, after...
The realistic positioning of UVA1 phototherapy after 25 years of clinical experience and the availability of new biologics and small molecules: a retrospective clinical study.
BACKGROUND
Since the early 1990s, Ultraviolet (UV) A1 phototherapy has been described as an effective and safe treatment of a multitude of skin disorders. However, after 30 years, its use has remained limited to few dermatological centers.
OBJECTIVE
To analyze the changes over the years and the current position of UVA1 phototherapy through a Real-World Evidence (RWE) study at a single tertiary referral center.
METHODS
We reviewed the medical files of 740 patients treated between 1998 and 2022. Treatment results were collected, efficacy was assessed by a grading scale and acute adverse effects were registered.
RESULTS
We treated patients with 26 different diseases. We registered marked improvement (MI) or complete remission (CR) in 42.8% of patients with morphea, 50% with Urticaria Pigmentosa, 40.7% with Granuloma annulare and 85.7% with skin sarcoidosis. Good results were obtained also in the treatment of chronic Graft Versus Host Disease (GVHD), Eosinophilic Fasciitis, Sclero-atrophic Lichen, skin manifestations of systemic lupus erythematosus and psoriasis of HIV+ patients. Systemic Sclerosis, Romberg's Syndrome, Bushke's Scleredema, Nephrogenic Fibrosing Dermopathy, REM Syndrome, Follicular Mucinosis, Pretibial Myxedema, Scleromyxedema, pemphigus foliaceus, chronic cutaneous lupus erythematosus, erythroderma of Netherton Syndrome and Necrobiosis Lipoidica were no or poorly responsive. In clinical indications where UVA1 was used as a second line phototherapy after narrow-band (NB)-UVB, we saw good MI or CR rates in Mycosis Fungoides (57% of patients), Atopic Dermatitis (33.9%), Pitiryasis Lichenoides chronica (50%), Pityriasis Lichenoides et varioliformis acute (75%) and Lymphomatod Papulosis (62.5%). Short-term adverse events were uncommon and mild.
CONCLUSION
Over the past decade, the annual number of treated patients has progressively declined for several reasons. Firstly, UVA1 phototherapy has taken a backseat to the cheaper and more practical NB-UVB phototherapy, which has proven effective for common indications. Secondly, the emergence of new, safe, and effective drugs for conditions such as atopic dermatitis, GVHD, and connective tissue disorders. Finally, our research has shown that UVA1 therapy is often ineffective or minimally effective for some rare diseases, contrary to previous case reports and small case series. Nonetheless, UVA1 continues to be a valuable treatment option for patients with specific skin disorders.
PubMed: 38076241
DOI: 10.3389/fmed.2023.1295145