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Journal Der Deutschen Dermatologischen... Jun 2024
PubMed: 38923334
DOI: 10.1111/ddg.15449 -
Dermatopathology (Basel, Switzerland) Jun 2024A 74-year-old woman in good general health presented with a 5-year history of progressive hair loss over several years, interpreted as female androgenetic alopecia...
A 74-year-old woman in good general health presented with a 5-year history of progressive hair loss over several years, interpreted as female androgenetic alopecia (AGA), and was treated with topical 5% Minoxidil without improvement. The patient's relevant medical history revealed infiltrating, triple-negative apocrine carcinoma of the right breast four years before, treated by quadrantectomy, radiation, lymphadenectomy and chemotherapy, with no recurrence at the last follow-up. On examination, there was an asymptomatic 15 × 15 cm firm and whitish area of scarring alopecia on the central scalp. Dermoscopy revealed multiple arborizing vessels and many telangiectasia. The clinical considerations included mainly cutaneous metastasis of breast carcinoma (alopecia neoplastica), pseudopelade of Broque and morpheaform basal cell carcinoma (BCC). A histopathologic examination revealed characteristic changes of morpheaform BCC with basaloid islands and cords of atypical basaloid cells diffusely infiltrating the dermis, embedded in a sclerotic and hypervascularized stroma. Secondary alopecia neoplastica due to morpheaform BCC on the scalp is an exceedingly rare entity, possessing subtle clinical features that may mimic both scarring and non-scarring alopecia. Delayed recognition may contribute to aggressive behavior and extensive local destruction. Treatment with hedgehog inhibitors in locally advanced BCC of the scalp, both in adjuvant and neoadjuvant modalities, is promising.
PubMed: 38921053
DOI: 10.3390/dermatopathology11020016 -
Current Opinion in Allergy and Clinical... Jun 2024This review summarizes recent advances in identifying genetic risk factors for atopic dermatitis and how these genetic associations are being used to explore the causal...
PURPOSE OF REVIEW
This review summarizes recent advances in identifying genetic risk factors for atopic dermatitis and how these genetic associations are being used to explore the causal relationships between atopic dermatitis and potential risk factors and downstream outcomes.
RECENT FINDINGS
A recent large-scale GWAS meta-analysis has identified 91 genetic loci associated with atopic dermatitis. Rare variant studies have also identified new gain-of-function or loss-of-function variants implicated in atopic dermatitis, particularly for FLG and STAT6/JAK1. Finally, there has been a surge in utilizing genetic association data to investigate the causal relationships between atopic dermatitis and other traits. Mendelian randomization studies have found that various metabolites and gut microbiota are causal for atopic dermatitis and have causally implicate atopic dermatitis in the development of alopecia areata, diabetes, vascular dementia and some cancers.
SUMMARY
The past year has seen a huge increase in the genes implicated for atopic dermatitis and in the use of genetics to explore causal relationships. The latter requires caution in implementation and interpretation, but is a promising area of research. In the coming years, increasing the ethnic diversity of atopic dermatitis genetic studies would be very welcome and the translation of current genetic findings into new drugs will be an exciting area of development.
PubMed: 38920356
DOI: 10.1097/ACI.0000000000001005 -
Rheumatology International Jun 2024Antineutrophil cytoplasmic antibody-associated vasculitides (AAV) is a group of systemic necrotizing small vessel autoimmune diseases, with microscopic polyangiitis...
BACKGROUND
Antineutrophil cytoplasmic antibody-associated vasculitides (AAV) is a group of systemic necrotizing small vessel autoimmune diseases, with microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA) being the two most common. The co-existence of AAV with different immune-mediated diseases (autoimmune disesases - AID) might affect the clinical presentation of the primary disease. The purpose of the study was to assess the co-existence of AAV with AID and to investigate whether it affects the characteristics and the course of AAV.
METHODS
A retrospective single-center study was performed to identify patients with a diagnosis of MPA or GPA and concomitant AID, and to investigate their clinical features and characteristics. The group consisted of consecutive unselected AAV patients treated at a large university-based hospital, since 1988 with follow-up until 2022.
RESULTS
Among 284 patients diagnosed either with GPA (232) or MPA (52), 40 (14,1%) had co-existing AIDs. The most frequent were: Hashimoto thyroiditis (16 cases), rheumatoid arthritis (8 cases), followed by psoriasis (6 cases), pernicious anemia (3 cases), and alopecia (3 cases). Patients with autoimmune comorbidities had a significantly longer time between the onset of symptoms and the diagnosis (26 vs. 11 months, p < 0.001). Laryngeal involvement (20.0% vs. 9.0%, p = 0,05), peripheral nervous system disorders (35.0% vs. 13.9%, p < 0.001), and neoplasms (20.0% vs. 8.6%, p = 0,044) were more common in patients with AID comorbidities, compared to subjects without AID. In contrast, renal involvement (45.0% vs. 70.9%, p = 0.001) and nodular lung lesions (27.5% vs. 47.5%, p = 0.044) were significantly less frequent in patients with co-morbidities. Following EUVAS criteria, patients with autoimmune co-morbidities had a generalized form of the disease without organ involvement (52.5% vs. 27.2%, p = 0.007), while the others had a higher percentage of generalized form with organ involvement (38.3% vs. 20.0%, p = 0.007).
CONCLUSIONS
The coexistence of AAV with different autoimmune diseases is not common, but it might affect the clinical course of the disease. Polyautoimmunity prolonged the time to diagnosis, but the AAV course seemed to be milder. Particular attention should be paid to the increased risk of cancer in these patients. It also seems reasonable that AAV patients should receive a serological screening to exclude the development of overlapping diseases.
PubMed: 38914775
DOI: 10.1007/s00296-024-05631-3 -
BMJ Case Reports Jun 2024We report a case of a boy in his middle childhood who presented with inspiratory stridor and lactic acidosis and was subsequently diagnosed with partial biotinidase...
We report a case of a boy in his middle childhood who presented with inspiratory stridor and lactic acidosis and was subsequently diagnosed with partial biotinidase deficiency. Fibreoptic laryngoscope showed paradoxical vocal fold mobility.Partial biotidinase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. It may result in clinical consequences and can be easily treated with biotin but need a high index of suspicion to diagnose. The main symptoms include ataxia, seizures, hypotonia, psychomotor retardation, alopecia, skin rash, progressive deafness, optic atrophy and life-threatening episodes of metabolic acidosis. Laryngeal stridor is an uncommon presentation, but it is reversible in case of biotinidase deficiency. Invasive procedure like tracheostomy has not been shown to enhance outcomes.
Topics: Humans; Male; Respiratory Sounds; Biotinidase Deficiency; Biotin; Laryngoscopy; Child
PubMed: 38914529
DOI: 10.1136/bcr-2023-256935 -
Clinics in Dermatology Jun 2024Botulinum neurotoxin type A (BoNTA) and filler injection procedures usually provide predicted outcomes with a low incidence of complications. Most of the complications...
Botulinum neurotoxin type A (BoNTA) and filler injection procedures usually provide predicted outcomes with a low incidence of complications. Most of the complications following these procedures have been extensively discussed. In this study, we report on these injectables' less well-known, recently reported, and novel complications and attempt to clarify the underlying mechanisms. Counterfeit or mishandled BoNTA has been associated with botulism. Additionally, BoNTA has been linked to uncommon complications, including morphea-like lesions, nontuberculous mycobacterial infections, vascular occlusion, and pseudoaneurysm of the superficial temporal artery. Unusual complications from filler injection include nonscarring alopecia, intraoral necrosis, nontuberculous mycobacterial infections, xanthelasma-like reactions, intracranial perforation, and pneumosinus dilatans. Post-BoNTA injection nodules and filler infection from bone destruction due to cocaine use are new complications. These complications pose a challenge for diagnosis and treatment. This publication aims to assist in promptly identifying and managing these rare and novel complications when necessary.
PubMed: 38914174
DOI: 10.1016/j.clindermatol.2024.06.023 -
Clinical Nuclear Medicine Jun 2024The aim of this study was to assess the association among toxicity, dosimetry of organs-at-risk, and disease progression in patients with gastroenteropancreatic...
PURPOSE
The aim of this study was to assess the association among toxicity, dosimetry of organs-at-risk, and disease progression in patients with gastroenteropancreatic neuroendocrine tumors (GEP-NETs) treated with 177Lu-DOTATATE.
PATIENTS AND METHODS
Thirty-seven patients with GEP-NETs underwent 177Lu-DOTATATE peptide receptor radionuclide therapy (PRRT) in a single-arm, prospective, phase 2 study, where patients were followed up with blood tests, isotopic glomerular filtration rate (iGFR), and imaging examinations (CT/MRI and PET) every 6 months until disease progression. Adverse events (AEs) graded per CTCAEv4.03 and occurring during treatment were collected and followed up until resolution. Dosimetry, including biologically effective doses (BEDs) to kidneys, BED to bone marrow, and absorbed dose (AD) to spleen, was performed after each PRRT cycle. Statistical analyses explored associations among dosimetry, toxicity, and patient progression free-survival.
RESULTS
The most common AEs were anemia and lymphopenia (65%), followed by thrombocytopenia and fatigue (each 51%), alopecia (46%), and nausea (41%). The most common grade ≥3 AE was lymphopenia (43%). There was no grade ≥3 nephrotoxicity. The median iGFR % decrease was 11% (P < 0.001), at a median follow-up of 23 months. iGFR %decrease and renal BED did not correlate (Spearman ρ = -0.09). Similarly, no significant association was found between bone marrow BED or spleen AD and the grades of hematological toxicities. We observed no association between progression free-survival and either the decline of renal function or the occurrence of hematological toxicities during PRRT.
CONCLUSIONS
This study confirms the safety profile of 177Lu-DOTATATE PRRT in patients with GEP-NETs irrespective of the dosimetry of organs at risk. Kidney, bone marrow, and spleen dosimetry measures were not associated with renal or hematological toxicity.
PubMed: 38914016
DOI: 10.1097/RLU.0000000000005330 -
Clinical Reviews in Allergy & Immunology Jun 2024Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple... (Review)
Review
Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto's thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5-2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05-1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population.
PubMed: 38913142
DOI: 10.1007/s12016-024-08996-2 -
Infection and Drug Resistance 2024Tinea capitis, primarily caused by dermatophytes such as and species, is a superficial fungal infection affecting the scalp and hair, commonly observed in prepubertal...
Tinea capitis, primarily caused by dermatophytes such as and species, is a superficial fungal infection affecting the scalp and hair, commonly observed in prepubertal children but rare in adults. Here we report a unique case of an adult female with tinea capitis presenting as diffused alopecia and erythema inflammation on the scalp's apex, mimicking seborrheic dermatitis. Examination of the hair and scalp using fluorescence microscopy and fungal culture identified the presence of hyphae from and . The patient underwent with oral antifungal treatment for 3 months, resulting in the resolution of the rash and subsequent hair regrowth, with no recurrence during 6-month follow-up. In vitro co-culture experiments of and (both and ) revealed that appears to facilitate growth, while the reverse was not observed. This data suggests that 's use of long-chain fatty acids by might reduce its antibacterial effect, potentially aiding adult tinea capitis development caused by .
PubMed: 38912215
DOI: 10.2147/IDR.S455485 -
European Journal of Dermatology : EJD Apr 2024
Topics: Humans; Male; Alopecia; Lasers, Solid-State; Adult; Middle Aged; Laser Therapy
PubMed: 38907561
DOI: 10.1684/ejd.2024.4656