Indian Journal of Dermatology最新文献

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease caused by PTCH gene mutation. Despite sporadic cases and case series reported worldwide, few pedigrees have been described. In this report, we showed 3 cases from the same family, all presenting with multiple craniofacial basal cell carcinoma (BCC) and spot-like depressions of the palm, with or without mandibular cysts and metacarpal malformations. Whole-genome sequencing revealed heterozygous missense mutation of PTCH-1 gene (c.1526G>A) in these patients, led to a diagnosis of NBCCS. Early recognition of NCBBS is of great significance to avoid disease progression.

Introduction: Primary alopecia is of two sub-types, namely, scarring and non-scarring. Scarring (cicatricial) alopecia targets the hair follicle unit and thus causes destruction of the hair follicle unit itself. On the other hand, in non-scarring alopecia, there is preservation of follicular units with no evidence of follicular drop-outs.

Aims and objectives: To study the elastic stain patterns and pattern of birefringence by polarised microcopy in cases of Lichen planopilaris (LPP).

Materials and methods: This retrospective study comprised 25 patients diagnosed with LPP in cicatricial alopecia at the Department of Pathology from January 2016 to June 2019. Verhoff's Van Geison Elastin (VVG) stain was compiled as the presence and absence of perifollicular fibrosis. Positive and negative birefringence was noted in the fibrous tract by polarised microscopy.

Observations and results: Perifollicular fibrosis with loss of elastic fibres was detected in 88% cases (n = 22) cases, while elastic stains were non-contributory in 12% cases (n = 3). Concordant results with VVG and positive birefringence were obtained in 52% cases (n = 13). 36% cases (n = 9) cases showed perifollicular fibrosis on VVG stain but were not highlighted by birefringence. Three cases were not detected by either of these techniques. The sensitivity of VVG stain was 95.6%, while the specificity was 100%. The sensitivity of positive birefringence in the fibrous tract in detecting LPP was 56.5%, while the specificity was 100%.

Conclusion: Elastic staining is a useful technique for evaluating LPP routine specimens with high sensitivity. Polarised microscopy has low sensitivity and high specificity in identifying cases of LPP. These techniques thus aid in diagnosing cases of irreversible hair loss and thus improve the treatment outcomes.

Background: Patients with palmoplantar pustulosis (PPP) rarely develop scaly erythematous and/or pustular lesions on sites other than the palms and soles, such as the dorsa of the feet, lower legs, knees, elbows, buttocks and trunk.

Objectives: This study aims to evaluate the characteristics of extra-palmoplantar lesions of Japanese patients with PPP.

Materials and methods: Twenty-three patients (seven males and 16 females) with PPP and extra-palmoplantar lesions were examined.

Results: The extra-palmoplantar lesions were classified into scaly, erythematous lesions (chronic type) (n = 15) and pustular lesions surrounded by erythema (acute type) (n = 8). In cases of acute exacerbation, multiple solitary pustules with or without scaly erythema developed following infection such as upper respiratory tract infection, tonsilitis, sinusitis and appendicitis. The frequency of joint manifestations was significantly higher in patients with acute type, as compared with chronic type (75.0% vs 13.3%). The histopathological features of scaly erythemas were focal parakeratosis, mild irregular acanthosis of the epidermis and mild mononuclear cell infiltration in the upper dermis, whereas Munro's microabscess was not observed in any cases. In contrast, a histopathological feature of the pustular lesion was consistent with that of pustular psoriasis. Expression of S100 family alarmin, CCL20 and CCR6 interaction and IL-36 was upregulated in the extra-palmoplantar lesional skin of PPP.

Conclusion: Alarmins triggered by mechanical stimuli induced extra-palmoplantar lesions of PPP, via CCL20/CCR6 interaction and IL-36. Extra-palmoplantar lesions can occur on pre-existing scars, in which tissue-resident memory T cells may be activated by mechanical stimuli and induce inflammatory cytokines.

Background: Skin diseases vary in different geographical areas as per their unique environmental characteristics. High-altitude skin diseases too are very different from that of plains.

Aim: This study was undertaken to see the incidence and nature of skin diseases amongst temporary residents (soldiers) in the Ladakh region of India and their comparison with their native colleagues (soldiers) posted in the same area.

Methods: The present study is a retrospective study wherein dermatology OPD data from a military hospital situated in Leh city were analyzed over 18 months period from September 2021 till February 2023.

Results: Out of a total of 1832 patients, 1528 (83.40%) were lowlanders and 304 (16.60%) were native highlanders with a mean age of 32.5 years, ranging between 21 and 68 years. Appendageal disorders (25.10%) were the most common overall and in both groups. Infections/infestations (18.17%) were the second most common overall and in lowlanders, but in native highlanders, photodermatoses were the second most common disorders. Other disorders reported were eczemas (16.75%), photodermatoses (12.5%), pigmentary disorders (7.75%), papulosquamous disorders (5.34%), urticaria (5.02%), benign skin tumours (4.36%), keratinisation disorders (2.34%), chill blains (0.55%), metabolic disorders (0.5%), and insect bite reactions (0.33%).

Limitations: Inclusion of soldiers/military men only and thereby a smaller number of native highlanders exist amongst soldiers representing disease in natives for comparison.

Conclusion: This study highlights higher incidence of acne, alopecia areata, PMLE, discoid eczema, ACD, and keratosis pilaris amongst lowlanders or temporary residents at high-altitude areas.

The clinical efficacy of adalimumab in treating severe plaque psoriasis is significant, but many questions and uncertainties remain. To evaluate the efficacy of adalimumab in treating patients with severe plaque psoriasis and to explore potential laboratory markers that may predict the efficacy of adalimumab. A retrospective analysis was conducted on 10 patients with severe plaque psoriasis who visited the dermatology department of our hospital from January 2020 to June 2024. Ten healthy individuals were included as a control group. Clinical scores of patients with severe plaque psoriasis were assessed, including body surface area (BSA), psoriasis area and severity index (PASI), and dermatology life quality index (DLQI). Cytokine levels in peripheral blood, including IL-2, IL-4, IL-6, IL-10, TNF-α, and IFN-γ, were measured. Changes in clinical scores and cytokine levels before and 6 months after adalimumab treatment were compared. Additionally, changes in cytokine levels in peripheral blood were analysed for six patients with severe plaque psoriasis who experienced disease relapse. For patients with severe plaque psoriasis, BSA decreased from (18.10 ± 4.89)% to (0.30 ± 0.48)%, PASI score decreased from (18.79 ± 4.91) to (0.12 ± 0.19), and DLQI score decreased from (20.50 ± 3.27) to (1.10 ± 0.32) after 6 months of adalimumab treatment. IL-2 levels decreased from (9.18 ± 4.26) pg/mL to (1.35 ± 1.36) pg/mL, IL-4 from (2.45 ± 1.25) pg/mL to (0.36 ± 0.41) pg/mL, IL-6 from (11.91 ± 6.38) pg/mL to (1.61 ± 1.07) pg/mL, IL-10 from (5.28 ± 2.10) pg/mL to (1.86 ± 0.92) pg/mL, TNF-α from (16.04 ± 17.98) pg/mL to (0.90 ± 0.74) pg/mL, and IFN-γ from (15.00 ± 7.51) pg/mL to (2.04 ± 0.88) pg/mL after 6 months of adalimumab treatment. Compared to the control group, the six cytokine levels in the peripheral blood of patients were significantly elevated before treatment and returned to normal levels after 6 months of treatment. During adalimumab treatment, a decrease in TNF-α with a significant increase in IFN-γ in peripheral blood indicated potential reduced drug efficacy; no significant increase in TNF-α and IFN-γ but an increase in IL-6 suggested the presence of other aggravating factors; significant increases in TNF-α, IFN-γ, and IL-6 indicated possible treatment discontinuation. Adalimumab can improve clinical symptoms in patients with severe plaque psoriasis by antagonising TNF-α and reducing levels of IL-2, IL-4, IL-6, IL-10, TNF-α, and IFN-γ in peripheral blood. Changes in peripheral blood levels of TNF-α, IFN-γ, and IL-6 may serve as early indicators of adalimumab efficacy in treating severe plaque psoriasis.