Objective: To analyze and summarize the clinical and pathological characteristics, management, and efficacy of patients with vulvar lichen sclerosus (VLS) through a single center large sample study, and preliminarily to explore the frequency of maintenance treatment medication for VLS. Methods: The clinical data of VLS patients in Obstetrics and Gynecology Hospital of Fudan University from 2018 to 2021 were retrospectively collected. The clinicopathological characteristics (patients' age, course of disease, complicated disease history, family history, symptoms, signs and pathology), treatment and effects were retrospectively analyzed. The patients in the maintenance treatment stage were followed up regularly to explore the minimum frequency of individual medication to maintain the stability of the disease. Results: (1) General situation: a total of 345 patients with VLS were included in this study. The average age was (50.4±14.7) years (ranged from 8 to 84 years old), prevalence was highest in the 50-59 years group (30.1%, 104/345). Immune diseases occurred in 18.6% (33/177) of patients, 24.3% (43/177) of patients had allergic skin diseases, and 5.6% (10/177) of the patients' immediate family members had chronic vulvar pruritus or vulvar hypopigmentation. (2) Clinical features: the most common symptom was vulvar pruritus (96.1%, 196/204) among 204 patients with recorded symptoms. The most common sign was hypopigmentation of the vulva (96.3%, 206/214). The most common involved sites were labia minora (70.3%, 142/202), labia majora (67.8%, 137/202), and labial sulcus (59.4%, 120/202). The cumulative number of sites involved in 62 vulvar atrophy patients (2.7±1.1) was significantly higher than that in 152 non-atrophy patients (2.2±1.0; t=3.48, P=0.001). The course of vulvar atrophy was (9.3±8.5) years, which was significantly longer than that of non-atrophy patients [(6.6±5.6) years; t=2.04, P=0.046]. (3) Pathological features: among the 286 patients with electronic pathological sections, the most common pathological feature in the epidermis was epithelial nail process passivation (71.3%, 204/286). The common pathological features in the dermis were interstitial collagenization (84.6%, 242/286), and inflammatory cell infiltration (73.8%, 211/286). (4) Treatment: 177 patients received standardized treatment after diagnosis and were followed up regularly in our hospital. In the initial treatment stage, 26.0% (46/177) of the patients were treated with 0.05% clobetasol propionate cream, and 74.0% (131/177) of the patients were treated with 0.1% mometasone furoate ointment. The complete remission rates of the two methods were respectively 80.4% (37/46) and 74.0% (97/131), and there was no statistically significant difference (χ²=0.76, P=0.385). During maintenance treatment, 27.1% (48/177) of the patients took the medication twice a week, 35.0% (62/177) took the medication once a week, and 37.9% (67/177) took the medication once every 10 days. During follow-up after 6 months of maintenance treatment, there were no patients with recurrence of pruritus or progression of vulvar signs. Conclusions: The majority of VLS patients have itching, hypopigmentation, involvement of labia minora and labia majora, progressive atrophy, and inflammatory infiltration of dermis. Local treatments of mometasone furoate and clobetasol propionate have good initial therapeutic effects. The frequency exploration of individualized maintenance treatment could minimize the occurrence of adverse reactions when ensuring the stability of the patients' condition.
Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Vulvar Lichen Sclerosus/pathology* ; Clobetasol/adverse effects* ; Retrospective Studies ; Mometasone Furoate/therapeutic use* ; Pruritus/drug therapy* ; Atrophy/drug therapy* ; Hypopigmentation/drug therapy*

OBJECTIVE: To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities. METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent. CONCLUSION The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.
Facies ; Female ; Hirschsprung Disease ; Humans ; Hypopigmentation ; Intellectual Disability/genetics* ; Microcephaly ; Pregnancy ; Zinc Finger E-box Binding Homeobox 2/genetics*

OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH). METHODS: Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members. RESULTS: The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree. CONCLUSION For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
Male ; Humans ; Pedigree ; Hypopigmentation/genetics* ; Phenotype ; Hyperpigmentation/genetics* ; China

Humans ; Hypopigmentation ; RNA, Long Noncoding/genetics* ; Vitiligo/genetics*

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
Alopecia ; Aniridia ; Chromosome Aberrations ; Coccyx ; Cytogenetic Analysis ; Extremities ; Female ; Humans ; Hypopigmentation ; Infant ; Karyotype ; Mosaicism ; Neurocutaneous Syndromes ; Pigmentation Disorders ; Scalp ; Syndactyly ; Tooth

Transsexual individuals with gender dysphoria or gender identity disorder are rare, with a prevalence reported to range from 0.002% to 0.014%. Studies have shown that mastectomy yields significant improvements in body image and self-esteem in female-to-male transsexual patients. In patients with grade III breast ptosis, mastectomy with a nipple-areolar complex (NAC) graft is the most commonly used technique, although it has several disadvantages. In the case described herein, a bilateral mastectomy preserving the NAC in an inferior pedicle was performed. Additionally, a thin superior thoracic dermal-fat flap was preserved and eventually sutured at the previous inframammary fold, preventing an inverted T scar. This case shows the advantage of this technique for preserving the blood supply and innervation of the NAC, with a low hypopigmentation risk. Furthermore, in this technique, the patch effect does not impair the results of the NAC graft, and there is no need to use an inverted T scar that may result in thoracic feminization.
Body Image ; Breast ; Cicatrix ; Feminization ; Gender Dysphoria ; Gender Identity ; Gynecomastia ; Humans ; Hypopigmentation ; Male ; Mastectomy ; Prevalence ; Thorax ; Transplants ; Transsexualism

No abstract available.
Choroid ; Hypopigmentation ; Vitiligo

No abstract available.
Dasatinib ; Drug Therapy ; Humans ; Hypopigmentation ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Protein-Tyrosine Kinases

PURPOSE: A case of a transient visual field defect and a change in spectral-domain optical coherence tomography (SD-OCT) after an overdose of sildenafil citrate is described. CASE SUMMARY: A 67-year-old male with no previous medical history presented with a bluish tinge and visual field defect in both eyes. He had consumed eight tablets of sildenafil citrate (800 mg) 3 days before the visit. His best-corrected visual acuity was 14/20 in the right eye and 20/20 in the left eye. No specific finding was noted on slit-lamp examination. Fundus examination and fundus photography revealed focal foveal hypopigmentation in both eyes. He underwent SD-OCT imaging with the Cirrus HD-OCT (Carl Zeiss Meditec, Oberkochen, Germany), and thickening of the ellipsoid zone and choroid was revealed by SD-OCT scans. He was advised not to take any more sildenafil citrate and was followed for 1 week after the first visit. Central scotomas of both eyes were revealed by a visual field test, and thickening of the ellipsoid zone and choroid remained. His eyes were re-evaluated 1 and 3 months after the first visit, and although the symptoms nearly disappeared, abnormalities in the visual field test and on SD-OCT remained, albeit with some degree of improvement. He revisited us 4 months after the first visit, at which time the visual field test and SD-OCT scans showed results within normal ranges. CONCLUSIONS: Sildenafil citrate overdose can result in a color anomaly (bluish tinge), visual field defects, and thickening of the ellipsoid zone and choroid on SD-OCT scans.
Aged ; Choroid ; Humans ; Hypopigmentation ; Male ; Photography ; Reference Values ; Scotoma ; Sildenafil Citrate ; Tablets ; Tolnaftate ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

Topical corticosteroids are widely prescribed and used. As interest in the use of corticosteroids grows, people are increasingly exposed to misinformation that causes an excessive fear of side effects. Topical corticosteroids mainly have vasoconstrictive, anti-inflammatory, immunosuppressive, and anti-proliferative effects. Corticosteroids are prescribed based on the patient's age, the site and severity of the lesion, and patient compliance. Adverse reactions include skin atrophy, telangiectasia, hypopigmentation, and steroid-induced acne. To prevent the side effects of topical corticosteroids and to minimize phobias about topical corticosteroids in the future, we suggest providing proper information and education for both physicians and patients about the safety, efficacy, and proper use of topical steroids. In this article, we review basic information about topical corticosteroids and guidelines for their use.
Acne Vulgaris ; Adrenal Cortex Hormones ; Atrophy ; Education ; Humans ; Hypopigmentation ; Patient Compliance ; Phobic Disorders ; Skin ; Steroids ; Telangiectasis