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Frontiers in Immunology 2024Chronic inflammatory skin diseases are multifactorial diseases that combine genetic predisposition, environmental triggers, and metabolic disturbances associated with... (Review)
Review
Chronic inflammatory skin diseases are multifactorial diseases that combine genetic predisposition, environmental triggers, and metabolic disturbances associated with abnormal immune responses. From an immunological perspective, the better understanding of their physiopathology has demonstrated a large complex network of immune cell subsets and related cytokines that interact with both epidermal and dermal cells. For example, in type-1-associated diseases such as alopecia areata, vitiligo, and localized scleroderma, recent evidence suggests the presence of a type-2 inflammation that is well known in atopic dermatitis. Whether this type-2 immune response has a protective or detrimental impact on the development and chronicity of these diseases remains to be fully elucidated, highlighting the need to better understand its involvement for the management of patients. This mini-review explores recent insights regarding the potential role of type-2-related immunity in alopecia areata, vitiligo, and localized scleroderma.
Topics: Humans; Vitiligo; Animals; Alopecia Areata; Th2 Cells; Cytokines; Dermatitis, Atopic; Scleroderma, Localized; Inflammation; Skin
PubMed: 38868763
DOI: 10.3389/fimmu.2024.1405215 -
PloS One 2024Canine Alopecia X is a non-inflammatory hair loss disorder of unknown etiology that predominantly affects German Spitz dogs. Treatment modalities include hormone and/or... (Comparative Study)
Comparative Study
Comparison between melatonin versus melatonin and photobiomodulation versus photobiomodulation in the treatment of Alopecia X in German Spitz dogs: Clinical, randomized, double-blind, parallel, non-inferiority protocol.
Canine Alopecia X is a non-inflammatory hair loss disorder of unknown etiology that predominantly affects German Spitz dogs. Treatment modalities include hormone and/or melatonin supplementation and low trauma microneedling. Melatonin influences hair growth and pigmentation in several species and presents a low risk of adverse effects when used in dogs with Alopecia X. Photobiomodulation (PBM) is frequently used in human androgenetic alopecia and alopecia areata; despite this, PBM remains unexplored in canine Alopecia X. To address this knowledge gap, sixty dogs of both sexes will be randomly assigned to three groups: (i) melatonin only group (3 mg/Kg, n = 20); (ii) PBM only group (diode laser, wavelength 660nm, 100mw power, with 3 J/point, 2 sessions/week for 3 months, n = 20); (ii) PBM + melatonin group (n = 20). The objective is to determine the potential of PBM alone or in conjunction with melatonin supplementation in promoting hair regrowth (hair density and diameter) by means of dermatoscopy and planimetry over a period of 90 days.
Topics: Animals; Melatonin; Dogs; Low-Level Light Therapy; Alopecia; Male; Female; Double-Blind Method; Dog Diseases; Hair
PubMed: 38861499
DOI: 10.1371/journal.pone.0304605 -
Acta Dermato-venereologica Jun 2024
Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings.
Topics: Humans; Incontinentia Pigmenti; Dermoscopy; Female; Alopecia; Cicatrix; Predictive Value of Tests
PubMed: 38860626
DOI: 10.2340/actadv.v104.40270 -
BMC Pediatrics Jun 2024Oculocutaneous albinism (OCA) is a group of autosomal recessive hereditary disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and... (Review)
Review
BACKGROUND
Oculocutaneous albinism (OCA) is a group of autosomal recessive hereditary disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and eyes. Retinopathy of prematurity (ROP) is a proliferative retinopathy mainly observed in premature infants with low birth weight and early gestational age, but it can also affect full-term infants or children with normal weight, particularly in developing countries. The coexistence of ROP and OCA is rare. There is limited documentation regarding treatment approaches, with few studies reporting positive outcomes with laser treatment due to the absence of melanin pigment. This study discusses the treatment challenges in a female infant diagnosed with ROP and OCA, and underscores the importance of genetic analysis in guiding therapeutic decisions for this rare comorbid condition.
CASE PRESENTATION
The study presents a case of ROP occurring concurrently with OCA. Genetic testing revealed two variants, c.727C > T (p.R243C) and c.1832 T > C (p.L611P), in the OCA2 gene, inherited from the patient's mother and father, respectively. The identified mutations were consistent with a diagnosis of OCA2, classified as a subtype of OCA. The patient initially received intravitreal anti-vascular endothelial growth factor (anti-VEGF) injection, followed by laser photocoagulation therapy for a recurrent event. A favorable outcome was observed during the 2-month follow-up period.
CONCLUSIONS
The co-occurrence of ROP and OCA is a rare phenomenon, and this is the first recorded case in the Chinese population. The current case supports the use of laser as the primary treatment modality for ROP in OCA2 patients with partial pigmentation impairment. Furthermore, genetic analysis can aid in predicting the effectiveness of laser photocoagulation in this patient population.
Topics: Humans; Female; Albinism, Oculocutaneous; Retinopathy of Prematurity; Infant, Newborn; Membrane Transport Proteins; Mutation; Angiogenesis Inhibitors; Laser Coagulation; Bevacizumab
PubMed: 38858617
DOI: 10.1186/s12887-024-04864-2 -
Cureus May 2024Researching Waardenburg syndrome (WS) underscores its rarity and complex symptomatology, presenting as a congenital disorder predominantly inherited in an autosomal...
Researching Waardenburg syndrome (WS) underscores its rarity and complex symptomatology, presenting as a congenital disorder predominantly inherited in an autosomal dominant pattern. It exhibits incomplete penetrance, which results in a wide range of clinical manifestations, with variable phenotypic presentations within the same family as well. The most commonly found features are facial abnormalities, hypopigmentation of the skin, heterochromia iridis, and conductive deafness. Adding to the eccentricities of this syndrome are its four subtypes, each presenting with its specific clinical features, which helps in delineating the subtype. A mutated paired box 3 () gene manifests as type 1 Waardenburg, which is characterized by sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), widely spaced eyes, congenital sensorineural hearing impairment, and patchy pigmentation of the iris, skin, and hair. Due to insufficient research, it has been difficult to isolate all the genetic mutations responsible for type 2, but its phenotype is very similar to type 1 with minor differences. Type 3 is characterized by musculoskeletal abnormalities. Waardenburg-Shah syndrome (type 4), which is associated with Hirschsprung disease, is the rarest subtype and is caused by genetic mutations in the endothelin receptor type B (), endothelin-3 (), or sex-determining region Y (SRY) box 10 () gene. We present a case series of this unique subtype that presented with a typical history of constipation due to Hirschsprung disease and had phenotypic manifestations of white forelock, heterochromia iridis, and bilateral sensorineural hearing loss (SNHL). In parallel with a positive 1° family history of a white forelock, we reflect on the fundamentals of this unique syndrome, as well as its management protocols, highlighting the importance of genetic counseling and cultivation of a high index of suspicion for its diagnosis.
PubMed: 38854277
DOI: 10.7759/cureus.59858 -
Archives of Dermatological Research Jun 2024A knowledge gap exists regarding the association between vitiligo and rheumatoid arthritis (RA) due to the absence of large-scale cohort studies designed to investigate...
A knowledge gap exists regarding the association between vitiligo and rheumatoid arthritis (RA) due to the absence of large-scale cohort studies designed to investigate this association. To investigate the bidirectional epidemiological association between vitiligo and RA. A population-based study was conducted using Clalit Health Services (CHS) database (2002-2019) using both a cohort study and a case-control study design. Adjusted hazard ratio (HR) and odds ratio (OR) were calculated by multivariate Cox and logistic regressions, respectively. Overall, 20,851 vitiligo patients and 102,475 controls were included. The incidence of new-onset RA was 4.1 (95% CI 3.0-5.4) and 2.9 (95% CI 2.4-3.3) cases per 10,000 person-years among patients with vitiligo and controls, respectively. Patients with vitiligo had a significantly increased risk of developing new-onset RA (adjusted HR, 1.44; 95% confidence interval [CI], 1.02-2.02, P = 0.036). The likelihood of having vitiligo was significantly elevated after a preexisting diagnosis of RA (adjusted OR, 1.67; 95% CI, 1.38-2.03; P < 0.001). Relative to the remaining patients with vitiligo, those with vitiligo and comorbid RA demonstrated an elevated risk of all-cause mortality (adjusted HR, 1.61; 95% CI, 1.03-2.51; P = 0.037). Our study confirms the bidirectional association between vitiligo and RA. Physicians treating patients with vitiligo should be aware of the association in clinical practice.
Topics: Humans; Vitiligo; Arthritis, Rheumatoid; Female; Male; Middle Aged; Case-Control Studies; Adult; Incidence; Aged; Taiwan; Risk Factors; Databases, Factual
PubMed: 38850409
DOI: 10.1007/s00403-024-02965-7 -
Archives of Dermatological Research Jun 2024Loss and absence of melanocytes due to a number of factors is responsible for vitiligo; known to be the commonest disorder of pigmentation. The aim of the current work... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
Loss and absence of melanocytes due to a number of factors is responsible for vitiligo; known to be the commonest disorder of pigmentation. The aim of the current work was to compare the efficacy and safety of excimer light with topical tacrolimus ointment 0.1% versus excimer light with topical bimatoprost gel 0.01% in treatment of facial vitiligo. The study was carried out on 48 patients presented with facial vitiligo. The patients were divided randomly using sealed envelope method into two groups (24 patients each). Group 1 were treated with excimer light plus topical tacrolimus ointment 0.1% and group 2 treated with excimer light plus topical bimatoprost gel 0.01%. Clinical improvement based on the quartile grading scale at the end of treatment did not show any statistically significant difference between groups. The majority of subjects in both groups experienced good to excellent improvement. Only 20.9% of patients in group 1 and 33.3% of subjects in group 2 achieved less than 50% repigmentation (p = 0.889). Our study demonstrated that 0.01% topical bimatoprost gel in combination with excimer light is considered safe and effective as treatment of nonsegmental facial vitiligo with comparable results to 0.1% tacrolimus.
Topics: Humans; Vitiligo; Tacrolimus; Bimatoprost; Female; Male; Adult; Treatment Outcome; Young Adult; Adolescent; Middle Aged; Lasers, Excimer; Administration, Topical; Skin Pigmentation; Face; Administration, Cutaneous; Child; Combined Modality Therapy; Immunosuppressive Agents
PubMed: 38850408
DOI: 10.1007/s00403-024-03054-5 -
Archives of Dermatological Research Jun 2024Follicular cell suspension (FCS) transplantation is a novel surgical method for treating resistant stable vitiligo, whereas mini punch grafting is an established... (Comparative Study)
Comparative Study
Follicular cell suspension (FCS) transplantation is a novel surgical method for treating resistant stable vitiligo, whereas mini punch grafting is an established effective method for treating stable vitiligo. The combination of FCS and mini punch grafting is a better strategy for the treatment of resistant stable vitiligo. The aim of the study was to evaluate the efficacy of follicular cell suspension, mini punch grafting, and a combination of both techniques in the treatment of stable vitiligo. This prospective comparative study was conducted on 48 patients with stable vitiligo. They were divided into three equal groups, including group A (treated with follicular cell suspension), group B (treated with mini punch grafting), and group C (treated with the combination of both techniques). All patients were followed-up for six months for the assessment of their therapeutic response regarding clinical outcomes. By comparing the data of the three studied groups, we found that the difference in the degree of re-pigmentation after one and three months of treatment was not significant. However, the progress of re-pigmentation was significantly different after six months of treatment among the three studied groups (P = 0.027). Specifically, re-pigmentation was significantly better in group C than in groups A and B (P = 0.037 and 0.017, respectively), but it was not significantly different between groups A and B.
Topics: Humans; Vitiligo; Female; Male; Adult; Transplantation, Autologous; Prospective Studies; Treatment Outcome; Young Adult; Middle Aged; Adolescent; Skin Pigmentation; Hair Follicle; Skin Transplantation; Follow-Up Studies
PubMed: 38850293
DOI: 10.1007/s00403-024-03045-6 -
The Journal of Investigative Dermatology Jun 2024A better understanding of human melanocyte (MC) and MC stem cell biology is essential for treating MC-related diseases. This study employed an inherited pigmentation...
A better understanding of human melanocyte (MC) and MC stem cell biology is essential for treating MC-related diseases. This study employed an inherited pigmentation disorder carrying the SASH1 variant in a Hispanic family to investigate SASH1 function in the MC lineage and the underlying mechanism for this disorder. We used a multidisciplinary approach, including clinical examinations, human cell assays, yeast 2-hybrid screening, and biochemical techniques. Results linked early hair graying to the SASH1 variant, a previously unrecognized clinical phenotype in hyperpigmentation disorders. In vitro, we identified SASH1 as a regulator in MC stem cell maintenance and discovered that TNKS2 is crucial for SASH1's role. In addition, the S519N variant is located in one of multiple tankyrase-binding motifs and alters the binding kinetics and affinity of the interaction. In summary, this disorder links both gain and loss of pigmentation in the same individual, hinting to accelerated aging in human MC stem cells. The findings offer insights into the roles of SASH1 and TNKS2 in MC stem cell maintenance and the molecular mechanisms of pigmentation disorders. We propose that a comprehensive clinical evaluation of patients with MC-related disorders should include an assessment and history of hair pigmentation loss.
PubMed: 38848986
DOI: 10.1016/j.jid.2024.04.027 -
Acta Medica Portuguesa Jun 2024
Topics: Humans; Tattooing; Hyperpigmentation; Female; Naphthoquinones; Dermatitis, Contact; Adult
PubMed: 38848699
DOI: 10.20344/amp.21318