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La Clinica Terapeutica 2020To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. (Review)
Review
OBJECTIVE
To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1.
MATERIALS AND METHODS
We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist.
RESULT
Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%).
CONCLUSION
Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Italy; Male; Middle Aged; Neurofibromatosis 1; Prevalence; Skin Diseases; Young Adult
PubMed: 32901776
DOI: 10.7417/CT.2020.2242 -
Dermatology Online Journal Dec 2018Folliculotropic mycosis fungoides (MF) is a distinct subset of cutaneous T cell lymphoma (CTCL). The disease is typically marked by an aggressive course and is often...
Folliculotropic mycosis fungoides (MF) is a distinct subset of cutaneous T cell lymphoma (CTCL). The disease is typically marked by an aggressive course and is often recalcitrant to skin-direct therapy. We report a case of an 83-year-old woman with folliculotropic MF characterized by erythematous, scaly plaques on the forehead along with poliosis and alopecia of the right medial eyebrow.
Topics: Aged, 80 and over; Alopecia; Eyebrows; Facial Neoplasms; Female; Humans; Mycosis Fungoides; Pigmentation Disorders; Skin Neoplasms
PubMed: 30677794
DOI: No ID Found -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Sep 2016To evaluate the efficacy and influential factors for 308 nm excimer laser in the treatment of stable vitiligo patients.
OBJECTIVE
To evaluate the efficacy and influential factors for 308 nm excimer laser in the treatment of stable vitiligo patients.
METHODS
A total of 207 stable vitiligo patients with 1 763 patches were treated with 308 nm excimer laser. Open-label study was carried out to investigate the efficacy and safety regarding the treatment with 308 nm excimer laser, and to compare the response under different conditions including gender, age, duration, lesion location, and hair color.
RESULTS
After treatment, 560 (31.8%) patches achieved 100% repigmentation, 650 (36.9%) lesions showed 75%-99% repigmentation, 189(10.7%) showed 50%-75% repigmentation, 231(13.1%) showed 25%-49% repigmentation, 108(6.1%) showed 1%-24% repigmentation, 25(1.4%) displayed no response. The rates of total excellent response (50%-100% repigmentation) in underage patients was 86.9%, much higher than that in adult patients (P<0.001). Total excellent response rates was 90.6% in disease duration <2 years, and 40.7% in disease duration ≥2 years. Lesions on the faciocervical region responded better than trunk and limbs, showing 95.4%, 70.3%, and 41.7% total excellent response, respectively. Patients with poliosis showed 54.9% in total excellent response rate, much lower than 84.5% in patients without poliosis(P<0.001). No significant response differences in gender were found.
CONCLUSION
308 nm excimer laser is effective and safe in treatment of vitiligo. Aging, disease duration, lesion location, and hair color in lesion may be the influential factors for 308 nm excimer laser in treatment of vitiligo patients.
Topics: Adolescent; Adult; Age Factors; Extremities; Face; Female; Hair Color; Humans; Lasers, Excimer; Male; Skin Pigmentation; Torso; Treatment Outcome; Vitiligo
PubMed: 27640798
DOI: 10.11817/j.issn.1672-7347.2016.09.014 -
EMBO Reports Jul 2023Dysregulation of the activity of the mechanistic target of rapamycin complex 1 (mTORC1) is commonly linked to aging, cancer, and genetic disorders such as tuberous...
Dysregulation of the activity of the mechanistic target of rapamycin complex 1 (mTORC1) is commonly linked to aging, cancer, and genetic disorders such as tuberous sclerosis (TS), a rare neurodevelopmental multisystemic disease characterized by benign tumors, seizures, and intellectual disability. Although patches of white hair on the scalp (poliosis) are considered as early signs of TS, the underlying molecular mechanisms and potential involvement of mTORC1 in hair depigmentation remain unclear. Here, we have used healthy, organ-cultured human scalp hair follicles (HFs) to interrogate the role of mTORC1 in a prototypic human (mini-)organ. Gray/white HFs exhibit high mTORC1 activity, while mTORC1 inhibition by rapamycin stimulated HF growth and pigmentation, even in gray/white HFs that still contained some surviving melanocytes. Mechanistically, this occurred via increased intrafollicular production of the melanotropic hormone, α-MSH. In contrast, knockdown of intrafollicular TSC2, a negative regulator of mTORC1, significantly reduced HF pigmentation. Our findings introduce mTORC1 activity as an important negative regulator of human HF growth and pigmentation and suggest that pharmacological mTORC1 inhibition could become a novel strategy in the management of hair loss and depigmentation disorders.
Topics: Humans; Hair Follicle; Mechanistic Target of Rapamycin Complex 1; Pigmentation; Melanocytes; Hair Color
PubMed: 37212043
DOI: 10.15252/embr.202256574 -
Romanian Journal of Ophthalmology 2016Vogt-Koyanagi-Harada syndrome is an uncommon multisystem inflammatory disorder characterized by panuveitis with serous retinal detachment and is often associated with...
Vogt-Koyanagi-Harada syndrome is an uncommon multisystem inflammatory disorder characterized by panuveitis with serous retinal detachment and is often associated with neurologic and cutaneous manifestations including headache, hearing loss, vitiligo, and poliosis. The case of a 62-year-old female with diabetes mellitus and a history of primary open angle glaucoma (POAG) in both eyes, operated on the left eye two weeks prior to the presentation and under topical antiglaucomatous drops, was reported. She presented at the ophthalmological service for decreased visual acuity (VA) in both eyes. The slit lamp examination revealed keratic precipitates and posterior iris synechiae in both eyes and an ExPress aqueous shunt in the left eye. Inferior retinal detachment was observed on ocular fundus examination on both eyes. Intraocular pressure value was in normal range under antiglaucomatous drops (dorzolamid + timolol). The distinctiveness of this case was the association of the VKH syndrome with POAG and the inability to prolong the corticosteroid treatment, necessary in this case, due to the association of diabetes mellitus.
Topics: Antihypertensive Agents; Diabetes Complications; Female; Glaucoma Drainage Implants; Glaucoma, Open-Angle; Glucocorticoids; Humans; Intraocular Pressure; Middle Aged; Retinal Detachment; Uveomeningoencephalitic Syndrome; Vision Disorders; Visual Acuity
PubMed: 29450345
DOI: No ID Found -
Frontiers in Medicine 2021Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and... (Review)
Review
Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations. The disease affects pigmented races with a predisposing genetic background. Evidence has been provided that the clinical manifestations are caused by a T-lymphocyte-mediated autoimmune response directed against antigens associated with melanocytes in the target organs. Alongside of T lymphocytes, autoreactive B cells play a central role in the development and propagation of several autoimmune diseases. The potential role of B lymphocytes in the pathogenesis of granulomatous uveitis associated with VKH disease is exemplified within several studies. The early initial-onset acute uveitic phase typically exhibits granulomatous choroiditis with secondary exudative retinal detachment and optic disc hyperemia and swelling, subsequently involving the anterior segment if not adequately treated. The disease eventually progresses to chronic recurrent granulomatous anterior uveitis with progressive posterior segment depigmentation resulting in "sunset glow fundus" appearance and chorioretinal atrophy if not properly controlled. Chronically evolving disease is more refractory to treatment and, consequently, vision-threatening complications have been recognized to occur in the chronic recurrent phase of the disease. Conventional treatment with early high-dose systemic corticosteroids is not sufficient to prevent chronic evolution. Addition of immunomodulatory therapy with mycophenolate mofetil as first-line therapy combined with systemic corticosteroids in patients with acute initial-onset disease prevents progression to chronic evolution, late complications, vitiligo, and poliosis. Furthermore, patients under such combined therapy were able to discontinue treatment without relapse of inflammation. These findings suggest that there is a therapeutic window of opportunity for highly successful treatment during the early initial-onset acute uveitic phases, likely because the underlying disease process is not fully matured. It is hypothesized that early and aggressive immunosuppressive therapy will prevent remnant epitope generation in the initiation of the autoimmune process, the so-called primary response. B cell depleting therapy with the anti-CD20 monoclonal antibody rituximab is effective in patients with refractory chronic recurrent granulomatous uveitis. The good response after rituximab therapy reinforces the idea of an important role of B cells in the pathogenesis or progression of chronic recurrent uveitis associated with VKH disease.
PubMed: 34869409
DOI: 10.3389/fmed.2021.705796 -
Skin Appendage Disorders Oct 2017Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis...
Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. The peculiarity of our cases is the familiarity and the presence of poliosis in the same location.
PubMed: 29177153
DOI: 10.1159/000477445 -
Annals of Indian Academy of Neurology 2021Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological...
Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with "complete" or "incomplete" syndrome. We report two patients who presented with acute headache and impaired vision. Fundus examination revealed optic disc hyperemia and exudative retinal detachment which provided a clue for the diagnosis at the bedside. Fundus fluorescein angiogram (FFA) revealed abnormal dye leakage, whereas B scan showed choroid thickening. Cerebrospinal fluid (CSF) pleocytosis contrasted with unremarkable brain magnetic resonance imaging and lack of meningeal signs. Melanophagocytosis was evidenced by melanin-laden macrophages in CSF and skin biopsy. This finding is specific for VKH syndrome and helps to clinch the diagnosis even when the complete syndrome is not present cross-sectionally. VKH syndrome should be suspected in patients with aseptic meningitis if tests for common infectious and immune-mediated diseases are negative.
PubMed: 34447006
DOI: 10.4103/aian.AIAN_405_20 -
Dermatology Practical & Conceptual Feb 2022
PubMed: 35223184
DOI: 10.5826/dpc.1201a40