Therapeutic approaches and targets for treatment of autoimmune bullous diseases.

Autoimmune bullous diseases are a heterogeneous group of diseases characterized by the development of cutaneous and mucosal vesicles, blisters, and finally erosions. The common pathogenetic mechanism is the presence of autoantibodies targeting structural proteins of the skin and mucous membranes (demosomes and hemidesmosomes): in the case of pemphigus, the antigens are intraepidermal, whereas in the case of pemphigoid, dermatitis herpetiformis, and epidermolysis bullosa acquisita they are subepidermal. Mucosal involvement typically affects the oral and ocular mucosa, but in some cases, the upper airways or the upper digestive tract are affected. The burden on patients' lives could be severe due to the impairment of normal feeding or breathing. In other cases, they may represent paraneoplastic syndromes. Since autoimmune bullous diseases may result in significant morbidity and mortality, depending on the grade of cutaneous and mucosal involvement, a prompt therapeutic approach is mandatory and, in recalcitrant cases, may be challenging. The first line therapy consists of corticosteroids, both topical and systemic. Once remission or control of the acute phase is obtained, adjuvant therapies need to be introduced in order to spare the corticosteroid load and minimize side effects such as iatrogenic diabetes or osteoporosis. Herein, we describe all current therapeutic approaches to autoimmune bullous diseases, also including emerging therapies.

Vulvar vitiligo and lichen sclerosus in children: A clinical challenge.

Vulvar vitiligo (VV) and vulvar lichen sclerosus (VLS), both feature skin and mucosal hypo-/depigmentation. The aim of this study was to describe the clinical and dermoscopic features of VV and VLS in the pediatric population, providing diagnostic clues, and to define their association. We performed a systematic literature review of the clinical and dermoscopic features of pediatric VV and VLS. An observational study was conducted on children affected by VLS associated with VV, referred to the Dermatology Unit of the Sant'Orsola Polyclinic in Bologna, Italy. Medical history, age at diagnosis, ethnicity, clinical and dermoscopic features, and symptoms were recorded for all patients. 124 cases of VLS and 10 cases of VV were reviewed. Clinical manifestations included hypo-/depigmented patches in both conditions, while ecchymosis/purpura and fissures/erosion were observed in VLS. Symptoms including pruritus, pain, or burning were reported only by VLS patients. In our study five patients with VLS associated with VV were retrieved. Clinical features included well-demarcated depigmented patches in VV and translucent areas, erythema, ecchymoses/purpura, and labial fusion in VLS. Dermoscopy showed white structureless areas with a whipped cream-like appearance, linear or dotted vessels, white chrysalis-like structures, erosion and red-purpuric blotches in VLS and reduced pigment network or pigment absence, intralesional spots of residual pigmentation and telangiectasias in VV. Symptoms were present in all patients. Both VV and VLS show hypo-/depigmented patches. In the presence of associated symptoms, possible VLS should be investigated with clinical and dermoscopic examination to achieve a prompt diagnosis.

Sonographic features of vaccination granulomas in children with delayed-type hypersensitivity to aluminum.

In this article, we report the sonographic features of vaccination granulomas in three children sensitized to aluminum. Although the recognition of the vaccination granuloma relies on the clinical examination, misdiagnosis is frequent, leading to distressful procedures or prolonged antibiotic administration. In all our cases, sonography revealed a teardrop-shaped echogenic central structure, suggesting the deposition of aluminum crystals along the route of administration with consequent subcutaneous degenerative changes, and a surrounding hypoechoic cap, which reflects the changeable inflammatory reaction and the granuloma formation.

Multiple perianal ulcers due to suppositories.

We report a case of long-standing inexplicable perianal ulcers. After exclusion of an inflammatory, infectious or neoplastic origin, a thorough personal history revealed that for many years the patient had been using analgesic suppositories containing indomethacin, caffeine, and prochlorperazine dimaleate, four to five times a week, for migraine. On stopping the suppositories, there was complete healing within 12 weeks. We hypothesize that vasoconstriction and vascular damage were the pathogenetic mechanisms behind the perianal ulcers.

Branching Dilated Vessels: A Possible Trichoscopic Clue for Diagnosis of Erosive Pustular Dermatosis of the Scalp in Children.

Introduction: Erosive pustular dermatosis of the scalp (EPDS) is an inflammatory scalp condition that usually affects the elderly, while only few cases have been reported in childhood. In children, it may mimic fungal or bacterial infections, especially kerion. Case Presentation: We describe the usefulness of trichoscopy as a supportive diagnostic tool in 2 cases of pediatric EPDS. Discussion: Clinical distinction between EPDS and different types of alopecia in children is difficult, with a significant likelihood of diagnostic errors and delay in therapy. Trichoscopy may provide a noninvasive option that can help avoid invasive diagnostic procedures in children.

Ultrasound patterns of localized cutaneous leishmaniasis and clinical correlations.

A single-center retrospective study reviewed the following sonographic features of 18 confirmed cases of localized cutaneous leishmaniasis to identify shared presentation patterns: echotexture, lesion borders, hypodermal involvement, soft-tissue changes, and vascular pattern. A second objective was to correlate these patterns with clinical characteristics, including sex, age, anatomical location, nodule vs. plaque presentation, raised borders, granulation tissue, swelling, hyperkeratotic crusting, disease onset, and healing time. Two main patterns were identified with high-frequency ultrasonography. The first pattern was characterized by a high level of inflammation and deep hypodermal involvement, while the second variant showed involvement limited to the dermis, with minimal inflammation. The "inflammatory pattern" showed ill-defined borders, mixed echotexture, prominent vascularity with central distribution, and was correlated with clinical signs of ulceration, granulation tissue, raised borders, and longer healing time (p < 0.05). The "pauci-inflammatory pattern" presented a well-defined structure with decreased echogenicity, reduced or absent vascularity with minimal soft-tissue changes, and was associated with a shorter healing time (p < 0.05).

Terra firma-forme dermatosis: a systematic review.

Terra firma-forme dermatosis (TFFD) is an acquired pigmentation disorder that promptly regresses after applying isopropyl alcohol 70%. The clinical presentation ranges from patches of brownish discoloration to velvety hyperkeratotic plaques. Critical analyses of current data are lacking, so etiologies, pathogenesis, and disease associations are still debated in the literature. A literature search was done in the PubMed and Google Scholar databases to identify the published papers reporting clinical cases of TFFD. Of 102 papers screened, 64 met the including criteria. Overall, the records of 256 patients presenting a mean age of 18.34 years and a female:male ratio of 1:37 were reviewed. The present article aims to provide a key point-summary regarding the clinical outcome, associated comorbidities, pathogenesis, histopathology, dermoscopy, and therapeutic modalities of TFFD.

Sequelae following infantile haemangiomas treated with propranolol.

BACKGROUND: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated. OBJECTIVES: To quantify and describe sequelae associated with IHs treated with oral propranolol, and to explore whether treated IHs are associated with fewer sequelae than untreated IHs. MATERIALS & METHODS: This multicentre, retrospective, cohort study included patients with IH treated with oral propranolol ≥2 mg/kg for at least six months, with photographic images available at baseline and at age 4-5 years. A historical comparison cohort comprised 185 patients with untreated IHs. Main outcomes/measures were: IH features, treatment characteristics and type/degree of sequelae. RESULTS: Oral propranolol, most commonly at 2 mg/kg/day (mean duration: nine months), was initiated in 171 patients (mean age: 6.02 months). After treatment, 125 of 171 (73.1%) IHs were associated with no/minimal sequelae. The most common sequelae were telangiectasia (78%), fibrofatty tissue (37%) and anetodermic skin (28%). Deep IHs were associated with significantly fewer sequelae than other subtypes. Ulceration appeared to increase the likelihood of severe sequelae. IHs with a stepped border was associated with more severe sequelae than those with a progressive border (44% versus 27%, p < 0.05). Treated IHs resolved without sequelae or were associated with a sequela that did not need correction in 27.7% more cases than untreated IHs (RR: 1.61; p < 0.001). CONCLUSION: Among IHs treated with oral propranolol, 73% resolved without, or were associated with minimal sequelae. Deep IHs were associated fewer sequelae than other subtypes. Oral propranolol decreased the likelihood of IH sequelae requiring correction.

Scalp hair whorl patterns in patients affected by Neurofibromatosis Type 1: A case-control study.

BACKGROUND: The hair whorl denotes the spiral disposition of hairs around an axis, which is determined by the follicle growing direction. Atypical variants of scalp hair patterns, identified by abnormally placed or multiple whorls, have been associated with early brain developmental disorders and several dysmorphic syndromes. MATERIALS AND METHODS: A 6-month case-control, prospective monocentric study included an overall number of 557 children. A logistic regression analysis was performed to evaluate the relationship between localization, the number of scalp hair whorls, and their association with neurofibromatosis type 1 (NF1). RESULTS: NF1 positively correlates with a frontal localization, whereas a negative association was found with a parietal whorl pattern (P < 0.001). CONCLUSION: Evaluation of scalp whorls gains importance in the neonatal settings and may contribute to suspect the early diagnosis of NF1, as the related National Institutes of Health diagnostic criteria cannot be usually observed at an early age.

Disseminate Recurrent Folliculitis and Hidradenitis Suppurativa Are Associated Conditions: Results From a Retrospective Study of 131 Patients With Down Syndrome and a Cohort of 12,351 Pediatric Controls.

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent skin disease of the pilosebaceous unit characterized by protean manifestations. Several studies have found an increased incidence and earlier presentation of this disease in patients carrying trisomy 21. Patients with Down syndrome (DS) have a higher risk of developing a wide range of cutaneous manifestations, including HS and chronic folliculitis. Recently, disseminate recurrent folliculitis (DRF) has been reported as an atypical monosymptomatic feature of HS at its onset. OBJECTIVE: To assess the prevalence of HS and DRF by comparing a cohort of patients carrying trisomy 21 vs pediatric controls. METHODS: A retrospective 2-year monocentric clinical study was performed by collecting clinical data of 131 patients with DS, aged 4-36 years, followed at the Dermatology Unit and Down Syndrome Regional Center of Bologna University. Data were matched with those coming from 12,351 pediatric controls. RESULTS: In DS patients, DRF and HS showed a prevalence of, respectively, 6.8% and 24.4%, while 5.3% of patients presented both diseases. In the control group the prevalence for HS+ and DRF+ was 0.5% and 1.2%, respectively, with a 0.14% of overlap cases. The association between HS and DRF proved to be statistically significant in both groups (P < 0.05). In the DS cohort the mean age of symptoms onset was 15.67 (SD: 2.29) years for HS and 13.11 (SD: 4.93) years for DRF. Buttocks were the most frequently affected body area for DRF followed by the inguinocrural area, while in HS buttocks were less frequently involved than groins and upper thighs. CONCLUSIONS: Because of the later onset of HS, patients with DRF at an early age should be monitored for the possible onset of HS in the apocrine-bearing areas.