Musk ambrette and chronic actinic dermatitis

A patient with persistent photosensitivity and positive photopatch tests to musk ambrette and an after-shave lotion is reported. Phototests showed extreme sensitivity to UV radiation, especially UVB. Patch tests with the European Standard Series and some plant allergens were negative. Histology showed a granulomatous reaction with epithelioid and giant cells in the dermis.     

Epidemiologic analysis and clinical course of 84 consecutive cases of pemphigus in eastern Sicily

Background The purpose of this study was to examine the clinical and epidemiologic features of pemphigus in eastern Sicily.
Methods All new cases of pemphigus seen in the Dermatology Clinic at the University of Catania during the period January 1982 to June 1996 were studied retrospectively.
Results Eighty-four patients with pemphigus represented 1.3% of 6653 patients admitted to our clinic in a 13.5-year period, with an average annual incidence of six cases per year. The most common form of presentation was pemphigus vulgaris (PV) (75%), followed by pemphigus erythematosus (17%), pemphigus herpetiformis (6%), and pemphigus vegetans (2%). In 6% of PV patients, the oral lesions were not followed by skin involvement, and the lag time between the onset of illness and the final diagnosis in five PV cases was prolonged, ranging from 4 to 7 years, probably due to the mild clinical presentation of the disease. Two trauma-related PV cases were documented; in one case, the blisters were located in a surgical scar and in the other in a burn scar.
Conclusions Our findings showed that pemphigus has a relatively high prevalence in eastern Sicily compared with other Italian regions; PV is the most common variant, and may have a mild course not always requiring aggressive therapy.     

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.     

Heterogeneity in amount of growth factors secreted by platelets in platelet-rich plasma samples from alopecia patients

Platelet α-granules release growth factors (GFs) that promote healing and tissue regeneration. Platelet-rich plasma (PRP) is shown to be beneficial in treating alopecia, and however, clinical response can be inconsistent. Due to several fold enrichment of platelets secreting large quantities of GFs following PRP injections, heterogeneity in amounts of GFs secreted by platelets may contribute to inconsistent clinical responses. Herein, we evaluated factors that could potentially contribute to heterogeneous secretion of GFs by platelets. We measured platelet secretion of transforming growth factor beta1 (TGFβ1), platelet-derived growth factor (PDGF-BB), epidermal growth factor (EGF), vascular endothelial growth factor (VEGF) and fibroblast growth factor (FGF2) in aliquots of de-identified PRP samples from female patients undergoing therapy in the hair disease clinic. Although secretion of GFs by platelets was comparable in PRP samples of patients with non-cicatricial and cicatricial alopecia, a Shapiro-Wilk test for normal distribution indicated significant variability across all patient samples. The amount of GF secreted by platelets was comparable when PRP prepared from two FDA-cleared devices with distinct techniques were compared. We provide evidence of platelets secreting heterogeneous amounts of GFs within each sample as high and low secretion of random factors could be simultaneously detected. These results suggest inherent heterogeneity in secretion of GFs by platelets in patient samples that are not influenced by the device used to prepare PRP. Since some GFs could have antagonistic effects on hair growth, a balance between amounts of growth promoting and inhibiting factors may be crucial in determining clinical response to PRP therapy.     

CARMIL2-related immunodeficiency manifesting with photosensitivity

We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.     

A novel vehicle for the treatment of psoriasis

This study evaluates the effectiveness of the topical use of an aerosol foam combination of calcipotriol 50 μg/g plus betamethasone dipropionate 0.5 mg/g (Cal/BD foam, Enstilar®) in adults with moderate plaque psoriasis. A total of 120 male and female adult psoriasis patients (53.3% male) from two Italian dermatological units were enrolled in an 8‐week prospective study performed between November 2018 and January 2019. Psoriasis Area and Severity Index (PASI) was evaluated at baseline (T0) and 4 weeks (T4) of daily application, and a further evaluation was carried out 4 weeks after suspension (T8). Furthermore, the Dermatology Life Quality Index (DLQI) was evaluated at baseline and after 4 weeks of treatment (T4). At baseline, patients presented a mean PASI of 7 (7.0 ± 2.1). After 4 weeks (T4) of once‐daily application, an important improvement in PASI was observed (1.1 ± 0.3). At Week 4, DLQI was reduced by 5.5 points from baseline (mean: 12 ± 3.1 at T0 vs 6.5 ± 1.8 at T4). Four weeks after suspension (T8), mean PASI was 2.6 ± 1.9, which was stable compared to the previous evaluation; only 8.3% of the treated patients showed worsening of plaque psoriasis. This study suggested that the Cal/BD aerosol foam is an effective topical therapy to treat plaque psoriasis.