FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent. Patients suspected with AAS were recruited, and clinical information was collected. Genetic testing and functional analysis were carried out for the diagnosis. By literature review, we summarized the clinical and genetic characteristics of FGD1-related AAS and analyzed the genotype-phenotype correlation. Five patients were recruited, and four novel FGD1 variants were identified. The diagnosis of AAS was confirmed by genetic analysis and functional study. Three patients treated with growth hormone showed improved heights during the follow-up period. By literature review, clinical features of AAS patients with FGD1 variants were summarized. Regarding FGD1 variations, substitutions were the most common form, and among them, missense variants were the most frequent. Moreover, we found patients with drastic variants showed higher incidences of foot and genitourinary malformations. Missense variants in DH domain were related to a lower incidence of cryptorchidism.   Conclusion: We reported four novel pathogenic FGD1 variations in AAS patients and confirmed the efficacy and safety of growth hormone treatment in FGD1-related AAS patients with growth hormone deficiency. Additionally, our literature review suggested the crucial role of DH domain in FGD1 function. What is Known: • Aarskog-Scott syndrome is a rare genetic disease, and the only known cause is the variant in FGD1 gene. The typical clinical manifestations of AAS include facial, skeletal, and urogenital deformities and short stature. What is New: • We reported four novel FGD1 variants and reported the treatment of growth hormone in FGD1-related AAS patients. Our genotype-phenotype correlation analysis suggested the crucial role of DH domain in FGD1 function.

Erosive pustular dermatosis of the scalp secondary to Erlotinib: A rare occurrence with trichoscopic perspective.

Epidermal growth factor receptor inhibitors are anti-tumour agents that are frequently used for the treatment of neoplastic disorders. In addition to their cutaneous adverse effects, these drugs can rarely lead to erosive pustular dermatosis of the scalp. We report a case of a 67-year-old female who developed erosive pustular dermatosis of the scalp after being started on erlotinib from a trichoscopic perspective, which has been described in literature only once till now.

Clinical efficacy of a gentle anti-dandruff itch-relieving shampoo formulation.

Dandruff is a common scalp condition affecting almost half of the world's population. Despite its high prevalence, the exact pathophysiology is not well established and is understood to be multifactorial, with factors such as fungal colonization, sebaceous gland activity and individual factors being implicated. There is a need for an effective and safe shampoo that can target the above factors. Hence, we have developed a shampoo formulation with properties of oil control, moisturizing, non-irritative, anti-fungal, anti-microbial and itch-relieving. In this interventional, open-label study, we evaluated the efficacy and safety of this shampoo in reducing the clinical signs of dandruff and pruritus in patients with pre-existing mild-to-moderate dandruff over a course of 21-day treatment duration through self-assessment and objective clinical evaluations. After continued use of the shampoo, there was a significant decrease in the adherent and loose scalp flaking scores. Mean pruritus scores also decreased significantly across the 21-day time points. There were also no adverse events or skin intolerances reported. This study showed that our shampoo formulation has led to a significant reduction in both adherent and loose scalp flaking and pruritus when used in individuals suffering from mild to moderate dandruff. As such, it is an ideal shampoo, which can be used to effectively control dandruff.

Les pellicules sont une affection courante du cuir chevelu qui touche près de la moitié de la population mondiale. Malgré sa prévalence élevée, la physiopathologie exacte n'est pas bien établie et est comprise comme étant multifactorielle, avec des facteurs impliqués tels que la colonisation fongique, l'activité des glandes sébacées et des facteurs individuels. Un shampooing sûr et efficace pouvant cibler les facteurs évoqués ci-dessus est nécessaire. Par conséquent, nous avons développé une formulation de shampooing présentant des propriétés de contrôle du sébum, d'hydratation, non irritante, antifongique, antimicrobienne et de soulagement des démangeaisons. Dans cette essaie interventionnelle ouvert, nous avons évalué l'efficacité et la sécurité d'emploi de ce shampooing dans la réduction des signes cliniques de pellicules et de prurit chez des patients présentant des pellicules préexistantes légères à modérées sur une durée de traitement de 21 jours par le biais d'auto-évaluations et d'évaluations cliniques objectives. Après une utilisation continue du shampooing, une diminution significative des scores de squames adhérents et d'excoriation du cuir chevelu a été observée. Les scores de prurit moyens ont également significativement diminué tout au long de la période de 21 jours. De même, aucun événement indésirable ou intolérance cutanée n'a été rapporté. Cette étude a montré que notre formulation de shampooing a entraîné une réduction significative des squames adhérents, de l'excoriation du cuir chevelu et du prurit lorsqu'elle est utilisée chez des personnes souffrant de pellicules légères ou modérées. Il s'agit donc d'un shampooing idéal qui peut être utilisé pour contrôler efficacement les pellicules.

Efficacy and safety of supramolecular active zinc in the treatment of scalp psoriasis: a multicentre, randomized, observed-blind, parallel-group, placebo- and active-controlled noninferiority trial.

BACKGROUND: Controlling the relapses of scalp psoriasis is a clinical issue. OBJECTIVES: To evaluate the efficacy and safety of a supramolecular active zinc antidandruff hair conditioner in managing scalp psoriasis (SP). METHODS: This multicentre randomized, observed-blind, parallel-group, placebo- and active-controlled noninferiority trial enrolled 211 patients with SP between October 2018 and June 2019. The participants were randomized 1 : 1 : 1 to the experimental (supramolecular active zinc antidandruff hair conditioner), placebo (supramolecular hydrogel) or positive control (calcipotriol ointment) group. The primary efficacy endpoint was the disease control rate at the end of the fourth week of treatment, measured using the Investigator's Global Assessment score. RESULTS: This study included 70, 70 and 71 participants in the experiment, control and placebo groups, respectively. The disease control rates of SP at the end of week 4 of treatment in the full-analysis set (FAS) were 39%, 25% and 37% in the experimental, placebo and control groups. The margin of superiority between the experimental and placebo groups was > 0 [96% confidence interval (CI) 13.22% (0.43% to ∞)] in the FAS. The experimental group was superior to the placebo group. The noninferiority margin between the experiment and control groups was > -15% [96% CI -1.43% (-14.91% to ∞)] in the FAS. The experimental group was not inferior to the control group. CONCLUSIONS: Supramolecular active zinc antidandruff hair conditioner was helpful for the treatment of SP, and it has good clinical efficacy in maintaining therapeutic effect and assisting in preventing the recurrence of psoriasis.

Maintenance effect of a once-weekly regimen of a Selenium Disulfide-based shampoo in moderate-to-severe scalp seborrheic dermatitis after initial treatment with topical corticosteroid/salicylic acid.

INTRODUCTION: Seborrheic dermatitis (SD) is a chronic, relapsing, inflammatory disorder of the head and trunk. OBJECTIVES: To explore the potential of a 1% Selenium disulphide (SeS2)-based shampoo to prevent relapses of scalp SD (SSD) following corticosteroid/salicylic acid (TCS/SA) treatment. MATERIALS & METHODS: After a 2-week treatment with TCS/SA, adult patients with moderate-to-severe SSD received either the SeS2-based shampoo or its vehicle for eight weeks in a randomized, double-blinded fashion. Visits took place at baseline, weeks 2, 6 and 10. SSD severity was assessed based on erythema, flakes and pruritus; patients assessed the severity of pruritus. Global investigator and patient satisfaction were assessed at week 10. RESULTS: Forty-eight adults were included. After four and eight weeks of post TCS/SA maintenance regimen, 8.1% and 16.7% in the SeS2, and 41.7% and 54.2% in the vehicle group relapsed, respectively. First median time-to-relapse in the vehicle group was 56 days; this was not reached for SeS2. After two weeks of TCS/SA, the prevalence of patients with no pruritus was 29.2% in the SeS2 group, and 41.7% in the vehicle group; it increased to 76.2% with SeS2 and to 57.1% with the vehicle at the end of the study. The clinical benefit of treatment with TCS/SCA was maintained in the SeS2 group only. Investigators and patients were highly satisfied with the efficacy of SeS2. Tolerance to SeS2 was excellent, with no reported adverse events. CONCLUSION: The SeS2-based shampoo significantly reduces the time-to-relapse of moderate-to-severe SSD flares. Its tolerance was excellent, with no reported adverse events.

Selenium Disulfide-based shampoo applied for 4 weeks significantly improves dandruff and seborrheic dermatitis.

Seborrheic Dermatitis (SD) is a chronic and relapsing inflammatory condition accompanied by erythema, flaking and itching. Dandruff is a milder form of SD. Selenium disulfide (SeS2) is beneficial in both conditions. OBJECTIVES: to assess the efficacy of SeS2-based shampoo in dandruff/SD. MATERIALS & METHODS: an international, multicenter, observational study was conducted in 1407 adult subjects. SeS2- based shampoo was used 2 to 3 times per week for 4 weeks. Clinical efficacy criteria included improvement of hair, flaking, erythema and irritation on a scale from 0 to 5; investigator satisfaction was assessed at month 3 from 0 to 10. The subjects rated the impact of their hair problem (0 to 5), efficacy and satisfaction with SeS2-based shampoo at month 3. Tolerance was assessed throughout the study. RESULTS: At baseline, 68.2% had a flake severity score of 3-5, 49.9% an erythema severity score of 3-5, and 46.2% an irritation severity score of 3-5; 28.2% were bothered and 41.5% were very bothered. At study end, SD/D had at least clearly improved in 89.6% of subjects. All clinical signs had significantly (p<0.001) improved. 95.6% of subjects reported less pruritus. Significantly fewer (15.4%, p<0.0001) subjects were still bothered. The overall subject satisfaction score was 8.9±1.4; 97.6% of investigators were satisfied or very satisfied. Tolerance was good or very good in 98.8% of subjects. CONCLUSION: A SeS2-based shampoo applied 2 to 3 times per week is efficient and well tolerated in dandruff and SD.

Erosive Pustular Dermatosis of the Scalp.

Erosive pustular dermatosis (EPD) is a rare entity, but it is generally overlooked or missed, rather than rarely encountered. It presents with erosions and shallow ulcers, accompanied by delayed healing and associated with cutaneous atrophy, rather than pustules. It exhibits predominance for women, with a predilection for a chronically sun-damaged scalp and, less commonly, the extremities, particularly the legs, as well as the face and mucosal surfaces. The role of infection, actinic damage, trauma, hormones, autoimmune disease, cutaneous atrophy, and genetics in the pathogenesis of EPD has been described in literature. Increased awareness and a high index of suspicion permit prompt treatment with topical corticosteroids, with or without oral zinc, followed by maintenance therapy with topical calcineurin inhibitors. Prevention, prior recognition, and prompt treatment are required for addressing this complex condition. (SKINmed. 2023;21:12-19).

Clinical benefit and tolerance profile of a keratolytic and hydrating shampoo in subjects with mild to moderate psoriasis. Results from a double-blind, randomized, vehicle-controlled study.

INTRODUCTION: Scalp psoriasis frequently goes with other disease location and may lead to a significant burden and impairment of quality of life (QoL). Adherence to local treatments is a frequent problem. A keratolytic and hydrating shampoo containing 2% salicylic acid, 5% urea, and 1% glycerin (active shampoo) has been developed for psoriasis-prone scalp. OBJECTIVE: To assess the efficacy and tolerability of an active shampoo in subjects with mild to moderate scalp psoriasis. MATERIALS AND METHODS: A single-center, randomized, double-blind, vehicle-controlled study was conducted on 67 adults with mild to moderate psoriasis. The active shampoo or its vehicle were applied daily for 14 days and 3 times/week for another 14 days. Assessments included the Psoriasis Scalp Severity Index (PSSI), Investigator Global Assessment (IGA), calculated total surface affected hair, scalp greasiness, irritation, and assessed scalp dermatitis-specific quality-of-life issues using SCALPDEX and product acceptability. RESULTS: The active shampoo significantly (p < 0.05) reduced the PSSI by 39.0%, 37.2%, 63.0%, and 69.0% immediately after washing compared to a 22.8%, 5.5%, 19.6%, and 13.0% with the vehicle at Days 1, 8, 15, and 30, respectively. SCALPDEX items, IGA, and irritation significantly (p < 0.05) reduced with the active shampoo. Hair and scalp greasiness improved continuously with both products until Day 21. Subject-reported symptom scores paralleled the positive evolution of clinical signs. The active shampoo was well tolerated, subjects were highly satisfied and had an improved QoL. CONCLUSION: The active shampoo significantly improved clinical signs, symptoms, and QoL of mild-to-moderate scalp psoriasis compared to the vehicle. It was very well tolerated and highly appreciated by the subjects.

Treatment of erosive pustular dermatosis of the scalp: our experience and review of unconventional topical drugs.

BACKGROUND: Erosive pustular dermatosis of the scalp (EPDS) is a rare inflammatory disorder of elderly individuals, characterized by relapsing pustular and eroded lesions of the scalp, which may lead to scarring alopecia. Treatment is challenging and classically based on topical and/or oral corticosteroids. CASE REPORT: From 2008 to 2022, we treated fifteen cases of EPDS. We used mainly topical and systemic steroids with good results. Nevertheless, several non-steroidal topical drugs have been described in literature for the treatment of EPDS. We have carried out a brief review of these treatments. CONCLUSIONS: Topical calcineurin inhibitors represent a valuable alternative to steroids to avoid skin atrophy. Emerging evidence about other topical treatments, such as calcipotriol, dapsone, zinc oxide, together with photodynamic therapy, are evaluated in our review.

Treatment of dissecting cellulitis of the scalp with tumour necrosis factor inhibitors: a retrospective multicentre study.

Although retinoids are considered as the most effective treatment, management of dissecting cellulitis of the scalp (DCS) is often challenging. A multicentre retrospective study was conducted to evaluate the efficacy of anti-tumour necrosis factor (TNF) agents in treating DCS after failure of other conventional treatments. Twenty-six patients were included. After a mean treatment duration of 19 months (SD 21), the median Physician's Global Assessment score decreased from 3 to 1. The median number of inflammatory nodules and abscesses decreased from 7 to 0.5 and from 1 to 0, respectively. The median Dermatology Life Quality Index and numerical rating scale score for pain severity decreased from 10 to 8 and 6 to 1, respectively. The median treatment satisfaction was 7 out of 10 on the Patient Satisfaction Index. This study confirms the efficacy of anti-TNF agents in treating patients with DCS that is resistant to conventional therapies.

Therapeutic options for perifolliculitis capitis abscedens et suffodens: A review.

Perifolliculitis capitis abscedens et suffodiens (PCAS) is a chronic skin inflammatory disease characterized by relapsing folliculitis and painful, fluctuant abscesses, sinus tracts, and scars. The treatment of PCAS is challenging and clinical practice varies a lot, and how to choose the best treatment for PCAS is a real problem for clinicians. We reviewed articles providing treatment options for patients with PCAS in different databases. Dermatologists may find this review helpful to meet the challenges of PCAS management, but there is still a lack of authoritative guidelines. In the future, more robust randomized control trials are needed to determine the best treatment for PCAS.

Treatment of Scalp Psoriasis.

Scalp involvement is seen in a majority of individuals with psoriasis, a chronic autoimmune skin disease with variable phenotypes. Occasionally, isolated scalp involvement is observed; and this causes significant psychosocial morbidity. Management of scalp psoriasis is difficult, in part due to the difficulty of applying topical agents and its refractory nature. Various treatment options are available with variable efficacy. Topical agents include topical steroids, keratolytics, tar and anthralin compounds, vitamin D analogues, and vitamin A derivatives. The combination treatment of topical betamethasone and calcipotriene is the most effective topical therapy. Systemic agents include conventional agents such as methotrexate, cyclosporine, and oral retinoids. Biologics offer a greater efficacy, with near complete or complete clearance of the scalp. In this article we review the published literature on adult and scalp psoriasis to highlight its treatment. Articles published in peer-reviewed journals were included for qualitative analysis of the literature, including reviews, clinical trials, case series, case reports published in the electronic database (MEDLINE/PubMed) through June 2021, cross references of respective articles, and trials from clinicaltrials.gov. J Drugs Dermatol. 2022;21(8):833-837. doi:10.36849/JDD.6498.

An Up-to-Date Approach to the Management of Dissecting Cellulitis.

Dissecting cellulitis of the scalp (DCS) also known as perifolliculitis capitis abscedens et suffodiens (PCAS) is a chronic, relapsing, inflammatory dermatosis consisting of edematous sterile pustules and nodules resulting in sinus tracts and scarring alopecia. Although first described as infectious in 1903, DCS is primarily an inflammatory process that can precede a secondary infection; this is similarly true of the other conditions within the follicular occlusion tetrad: hidradenitis suppurativa (HS), acne conglobata, and pilonidal sinus.