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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 -
Tidsskrift For Den Norske Laegeforening... Aug 2005Vogt-Koyanagi-Harada disease is a bilateral panuveitis associated with exudative retinal detachment. This disease typically affects young adults, and occurs most...
BACKGROUND
Vogt-Koyanagi-Harada disease is a bilateral panuveitis associated with exudative retinal detachment. This disease typically affects young adults, and occurs most frequently among Asians. Meningeal signs, dysacusis, poliosis and vitiligo are usual features of the condition.
MATERIAL AND METHODS
We present three patients with Vogt-Koyanagi-Harada disease.
RESULTS
All patients presented with decreased vision. Two of them had typical prodromal symptoms, with headache and meningism. Bilateral panuveitis with exudative retinal detachment and choroidal effusion developed in all patients. Fluorescein angiography demonstrated areas of pinpoint hyperfluorescence at the level of the pigment epithelium and pooling of dye in the area of exudative detachments. All patients responded well to high-dose systemic corticosteroids, with resolution of the exudative retinal detachments and improved visual acuity. Interpretation. Vogt-Koyanagi-Harada disease is a rare, but important, diagnosis in patients with bilateral uveitis. Early administration of high-dose systemic steroids is recommended for successful treatment.
Topics: Adolescent; Adult; Diagnosis, Differential; Female; Fluorescein Angiography; Glucocorticoids; Humans; Male; Middle Aged; Prednisolone; Prognosis; Uveomeningoencephalitic Syndrome
PubMed: 16138134
DOI: No ID Found -
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 -
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 -
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 -
Dermatology Practical & Conceptual Feb 2022
PubMed: 35223184
DOI: 10.5826/dpc.1201a40 -
Saudi Journal of Ophthalmology :... Jul 2013Allogeneic hematopoietic stem cell transplantation (HSCT) has evolved over the past two decades to become the standard of care for hematologic and lymphoid malignancies....
Allogeneic hematopoietic stem cell transplantation (HSCT) has evolved over the past two decades to become the standard of care for hematologic and lymphoid malignancies. Major ocular complications after allogeneic HSCT have been increasing in number and severity. Graft-versus-host disease (GVHD) remains a major cause of ocular morbidity after allogeneic HSCT. The main objective of this review is to elucidate the ocular complications in patients developing GVHD following HSCT. Ocular complications secondary to GVHD are common and include dry eye syndrome, acquisition of ocular allergy from donors with allergic disorders. Eyelid changes may occur in GVHD leading to scleroderma-like changes. Patients may develop poliosis, madarosis, vitiligo, lagophthalmos, and entropion. The cornea may show filamentary keratitis, superficial punctate keratitis, corneal ulcers, and peripheral corneal melting which may lead to perforation in severe cases. Scleritis may also occur which can be anterior or posterior. Keratoconjunctivis sicca appears to be the most common presentation of GVHD. The lacrimal glands may be involved with mononuclear cell infiltration of both the major and accessory lacrimal glands and decrease in tear production. Severe dry eye syndrome in patients with GVHD may develop conjunctival scarring, keratinization, and cicatrization of the conjunctiva. Therapy of GVHD includes systemic immunosuppression and local therapy. Surgical treatment in refractory cases includes surgical intervention to improve the manifestation of GVHD of the eye. This may include tarsorrhapy, prose lenses, punctal occlusions and corneal transplantation.
PubMed: 24227989
DOI: 10.1016/j.sjopt.2013.06.007