Secondary syphilis presenting with alopecia and leukoderma in a stable HIV-positive patient in a resource-limited setting: a case report.

BACKGROUND: Syphilis is an infection caused by the bacteria Treponema pallidum. It is mainly transmitted through oral, vaginal and anal sex, in pregnancy and through blood transfusion. Syphilis develops in primary, secondary, latent and tertiary stages and presents with different clinical features at each stage. Infected patients can remain asymptomatic for several years and, without treatment, can, in extreme cases, manifest as damage in several organs and tissues, including the brain, nervous tissue, eyes, ear and soft tissues. In countries with a high human immunodeficiency virus (HIV) burden, syphilis increases the risk of HIV infections. We report the case of a young HIV-positive black woman who presented with alopecia and hypopigmentation as features of secondary syphilis. CASE PRESENTATION: A virologically suppressed 29-year-old woman on Anti-retroviral Therapy (ART) presented with a short history of generalized hair loss associated with a non-itchy maculopapular rash and skin depigmentation on the feet. Limited laboratory testing confirmed a diagnosis of secondary syphilis. She was treated with Benzathine Penicillin 2.4MU. After receiving three doses of the recommended treatment, the presenting features cleared, and the patient recovered fully. CONCLUSION: This case demonstrates the importance of a high index of clinical suspicion and testing for syphilis in patients presenting with atypical clinical features of secondary syphilis, such as hair loss and hypopigmentation. It also highlights the challenges in diagnosing and clinically managing syphilis in a resource-limited setting.

From mice to men: An assessment of preclinical model systems for the study of vitiligo.

Vitiligo is an autoimmune skin disease of multiple etiology, for which there is no complete cure. This chronic depigmentation is characterized by epidermal melanocyte loss, and causes disfigurement and significant psychosocial distress. Mouse models have been extensively employed to further our understanding of complex disease mechanisms in vitiligo, as well as to provide a preclinical platform for clinical interventional research on potential treatment strategies in humans. The current mouse models can be categorized into three groups: spontaneous mouse models, induced mouse models, and transgenic mice. Despite their limitations, these models allow us to understand the pathology processes of vitiligo at molecule, cell, tissue, organ, and system levels, and have been used to test prospective drugs. In this review, we comprehensively evaluate existing murine systems of vitiligo and elucidate their respective characteristics, aiming to offer a panorama for researchers to select the appropriate mouse models for their study.

[Clinical and pathological analysis of 345 cases of vulvar lichen sclerosus and a preliminary study on the frequency of maintenance treatment].

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.

FLOTCH Syndrome: A Case of Leukonychia Totalis and Multiple Pilar Cysts.

FLOTCH (leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome) syndrome is a rare genetic cutaneous disorder primarily characterized by multiple recurrent trichilemmal pilar cysts and leukonychia. It may be associated with ciliary dystrophy, koilonychia, and/or less frequently renal calculi and pancreatitis inherited in an autosomal-dominant fashion. We report the case of a 25-year-old Black woman who presented with white-colored fingernails and enlarging cysts in multiple locations including the scalp, rib cage, and forearm and was diagnosed with suspected FLOTCH syndrome. Pilar cysts in unusual locations along with distinct nail changes should prompt clinicians to consider further investigation for conditions such as FLOTCH syndrome.

Locus coeruleus pathology is associated with cerebral microangiopathy at autopsy.

INTRODUCTION: We investigated the link between locus coeruleus (LC) pathology and cerebral microangiopathy in two large neuropathology datasets. METHODS: We included data from the National Alzheimer's Coordinating Center (NACC) database (n = 2197) and Religious Orders Study and Rush Memory and Aging Project (ROSMAP; n = 1637). Generalized estimating equations and logistic regression were used to examine associations between LC hypopigmentation and presence of cerebral amyloid angiopathy (CAA) or arteriolosclerosis, correcting for age at death, sex, cortical Alzheimer's disease (AD) pathology, ante mortem cognitive status, and presence of vascular and genetic risk factors. RESULTS: LC hypopigmentation was associated with higher odds of overall CAA in the NACC dataset, leptomeningeal CAA in the ROSMAP dataset, and arteriolosclerosis in both datasets. DISCUSSION: LC pathology is associated with cerebral microangiopathy, independent of cortical AD pathology. LC degeneration could potentially contribute to the pathways relating vascular pathology to AD. Future studies of the LC-norepinephrine system on cerebrovascular health are warranted. HIGHLIGHTS: We associated locus coeruleus (LC) pathology and cerebral microangiopathy in two large autopsy datasets. LC hypopigmentation was consistently related to arteriolosclerosis in both datasets. LC hypopigmentation was related to cerebral amyloid angiopathy (CAA) presence in the National Alzheimer's Coordinating Center dataset. LC hypopigmentation was related to leptomeningeal CAA in the Religious Orders Study and Rush Memory and Aging Project dataset. LC degeneration may play a role in the pathways relating vascular pathology to Alzheimer's disease.

Neurovisual profile in children affected by Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations. METHODS: Thirty-seven children (23 females, mean age 102.8 ± 54.4 months, age range 22 to 251 months) with molecular confirmed diagnosis of AS were enrolled in the study. All underwent a comprehensive video-recorded neurovisual evaluation including the assessment of ophthalmological aspects, oculomotor functions, and basic visual abilities. RESULTS: All children had visual impairments mainly characterized by refractive errors, ocular fundus changes, strabismus, discontinuous/jerky smooth pursuit and altered saccadic movements, and/or reduced visual acuity. Comparing the neurovisual profiles between the deletion and non-deletion genetic subgroups, we found a significant statistical correlation between genotype and ocular fundus hypopigmentation (p = 0.03), discontinuous smooth pursuit (p < 0.05), and contrast sensitivity abnormalities (p < 0.01) being more frequent in the deletion subgroup. CONCLUSIONS: Subjects affected by AS present a wide spectrum of neurovisual impairments that lead to a clinical profile consistent with cerebral visual impairment (CVI). Moreover, subjects with a chromosome deletion show a more severe visual phenotype with respect to ocular fundus changes, smooth pursuit movements, and contrast sensitivity. Early detection of these impaired visual functions may help promote the introduction of neurovisual habilitative programs which can improve children's visual, neuromotor, and cognitive outcomes.

Neuropsychological and Social Characteristics of a 7 Year Old Child with Hypomelanosis of Ito Followed for 11 Years.

Hypomelanosis of Ito (HI) is a neurocutaneous disorder associated with central nervous system abnormalities, including speech delay and intellectual disability. The long term neuropsychological and social characteristics of these children are unknown. Neuropsychological observations and parental reports were obtained yearly on a child with HI from ages 7 to 18 years. Serial measures of intelligence revealed stable verbal and perceptual reasoning scores with later improvements in working memory and processing speed performance. Speech articulation improved at age 12, as did the speed of right-hand finger tapping. Improved social integration occurred, but anxiety persisted throughout this developmental period.

Hypomelanosis of Ito.

Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by presence of hypopigmented skin lesions arranged in whorls and streaks following the lines of Blaschko and are often accompanied by abnormalities of the central nervous system, skeletal system, eyes and teeth. Additional symptoms include deafness, hemihypertrophy, cardiac abnormalities, renal malformations, and abnormalities of the genitourinary tract.

Perifollicular Hypopigmentation in Systemic Sclerosis: Associations With Clinical Features and Internal Organ Involvement.

OBJECTIVE: To determine whether perifollicular hypopigmentation in systemic sclerosis (SSc) is associated with demographics, distinct clinical features, and autoantibody profiles. METHODS: Patients with SSc were prospectively enrolled, with a standardized data form used to collect anatomic distribution of perifollicular hypopigmentation. Associations between hypopigmentation and features of SSc were assessed. RESULTS: Of 179 adult patients with SSc, 36 (20%) patients had perifollicular hypopigmentation. Of these 36 patients, 94% (n = 34) were female and 33% (n = 12) had limited cutaneous SSc. In univariable logistic regression, Black race (odds ratio [OR] 15.63, 95% CI 6.6-37.20, P < 0.001), diffuse cutaneous SSc (dcSSc; OR 4.62, 95% CI 2.11-10.09, P < 0.001), higher maximum modified Rodnan skin score (mRSS; OR 1.05, 95% CI 1.02-1.08, P = 0.003), myopathy (OR 3.92, 95% CI 1.80-8.57, P < 0.001), pulmonary fibrosis (OR 2.69, 95% CI 1.20-6.02, P = 0.02), lower minimum forced vital capacity % predicted (OR 0.96, 95% CI 0.94-0.99, P = 0.001), and lower minimum diffusing capacity for carbon monoxide % predicted (OR 0.97, 95% CI 0.95-0.99, P = 0.009) were associated with hypopigmentation. Anticentromere antibodies inversely associated with hypopigmentation (OR 0.24, 95% CI 0.07-0.86, P = 0.03). After adjusting for age, race, and disease duration, dcSSc (OR 4.28, 95% CI 1.46-12.53, P = 0.008) and increased mRSS (OR 1.07, 95% CI 1.02-1.12, P = 0.009) were significantly associated with hypopigmentation. CONCLUSION: Perifollicular hypopigmentation is observed in a subset of patients with SSc and associated with diffuse subtype. Larger prospective studies determining whether perifollicular hypopigmentation precedes end-organ involvement and whether specific patterns associate with internal organ involvement are needed.

Pigmentary abnormality without significant drusen as a risk factor for late age-related macular degeneration.

We investigated the incidence and risk factors of late age-related macular degeneration (AMD) in the fellow eye (FE) without significant drusen of patients with unilateral exudative macular neovascularization (MNV). In this retrospective study, 241 eligible patients who were followed-up for more than 3 years were enrolled. We analyzed the incidence and hazard ratios (HRs) of late AMD in the FE according to demographic and ophthalmologic variables. Hypopigmentation on color fundus photography (CFP) corresponds to shallow irregular RPE elevation (SIRE), so-called "double-layer sign" and/or "attenuation or disruption of RPE and/or ellipsoid zone" on OCT. The 5-year incidence of FE exudative MNV conversion was 8.6%. The 5-year incidence of FE exudative MNV of large hypopigmentation (≥ 0.5 disc area; DA) and small hypopigmentation (< 0.5 DA) on CFP, and SIRE (≥ 1000 µm) and small RPE elevation (< 1000 µm) on OCT were 36.2%, 14.2%, 55.0%, and 15.6%, respectively. The multivariate Cox proportional hazard model revealed that large hypopigmentation, small hypopigmentation, SIRE, and small RPE elevation showed HRs of 23.230, 8.037, 132.589, and 41.823 for FE exudative MNV occurrence, respectively. Hypopigmentation on CFP and SIRE on OCT could represent the same lesion. Even small hypopigmentation and small RPE elevation were significant risk factors for progression to exudative MNV.

Camouflage of Vitiligo by Medical Tattooing.

Vitiligo is an acquired skin depigmentation disorder that affects 0.5-2% of the world population. It is characterized by loss of the natural brown melanin pigment of the skin clinically manifested as few or many white patches on the skin and microscopically with the total absence of me-lanocytes in the epidermis. The change in appearance caused by vitiligo can affect persons' emotional and psychological well-being and may cause them to alter their lifestyle. The social complication of vitiligo depends on ethnicity and on geography and local opinion, which may deem vitiligo contagious. The aim of the medical tattooing procedure in vitiligo is to revert the white vitiligo patches to normal-looking skin of natural or near natural color through installation of brownish tattoo pigment. The coloring effect is not permanent and tends to fade over time, and repeated treatment may be needed after about a year. This chapter reviews vitiligo and indications, technique, and procedures associated with medical tattooing of the disease.

Transient Horner's syndrome and ipsilateral facial hypopigmentation in an acromelanistic cat.

Horner's syndrome (HS) occurs when the sympathetic nerve pathway is disrupted. This case report describes a cat with acromelanism that developed unilateral facial hypopigmentation concurrently with HS after an oesophagostomy tube was placed. Both the hypopigmentation and HS resolved completely following removal of the oesophagostomy tube.

Le syndrome de Horner (HS) survient lorsque la voie nerveuse sympathique est perturbée. Ce rapport de cas décrit un chat atteint d'acromélanisme qui a développé une hypopigmentation faciale unilatérale en même temps qu'une HS après la mise en place d'une sonde d'oesophagostomie. L'hypopigmentation et l'HS ont disparu complètement après le retrait de la sonde d'œsophagostomie.

El síndrome de Horner (HS) ocurre cuando se interrumpe la transmisión nerviosa a través del nervio simpático. Este caso clínico describe un gato con acromelanismo que desarrolló hipopigmentación facial unilateral al mismo tiempo que HS después de la colocación de una sonda de esofagostomía. Tanto la hipopigmentación como la HS se resolvieron por completo tras la retirada del tubo de esofagostomía.

A síndrome de Horner (SH) ocorre quando a via do nervo simpático é danificada. Este relato de caso descreve um gato com acromelanismo que desenvolveu hipopigmentação facial unilateral concomitantemente com SH após a colocação de um tubo de esofagostomia. Tanto a hipopigmentação quanto a HS se resolveram completamente após a remoção do tubo de esofagostomia.

Hypopigmented burn hypertrophic scar contains melanocytes that can be signaled to re-pigment by synthetic alpha-melanocyte stimulating hormone in vitro.

There are limited treatments for dyschromia in burn hypertrophic scars (HTSs). Initial work in Duroc pig models showed that regions of scar that are light or dark have equal numbers of melanocytes. This study aims to confirm melanocyte presence in regions of hypo- and hyper-pigmentation in an animal model and patient samples. In a Duroc pig model, melanocyte presence was confirmed using en face staining. Patients with dyschromic HTSs had demographic, injury details, and melanin indices collected. Punch biopsies were taken of regions of hyper-, hypo-, or normally pigmented scar and skin. Biopsies were processed to obtain epidermal sheets (ESs). A subset of ESs were en face stained with melanocyte marker, S100ß. Melanocytes were isolated from a different subset. Melanocytes were treated with NDP α-MSH, a pigmentation stimulator. mRNA was isolated from cells, and was used to evaluate gene expression of melanin-synthetic genes. In patient and pig scars, regions of hyper-, hypo-, and normal pigmentation had significantly different melanin indices. S100ß en face staining showed that regions of hyper- and hypo-pigmentation contained the same number of melanocytes, but these cells had different dendricity/activity. Treatment of hypo-pigmented melanocytes with NDP α-MSH produced melanin by microscopy. Melanin-synthetic genes were upregulated in treated cells over controls. While traditionally it may be thought that hypopigmented regions of burn HTS display this phenotype because of the absence of pigment-producing cells, these data show that inactive melanocytes are present in these scar regions. By treating with a pigment stimulator, cells can be induced to re-pigment.

Hypomelanosis of Ito presenting with unilateral dilation of Virchow-Robin spaces: a case report.

Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache. Her physical and neurological examinations were normal, except for the presence of unilateral cutaneous macular hypopigmented whorls and streaks on lower side of the right trunk and lower limb, termed as Blaschko's lines. She had mild deficits in cognitive and adaptive functioning. Hearing, renal, dental, ophthalmologic, metabolic, and cardiac assessments were normal. Brain magnetic resonance imaging (MRI) showed markedly unilateral hemispheric enlarged VRS without contrast enhancement and diffusion restriction. To the best of our knowledge, our case is the first report describing the unilateral hemispheric enlarged VRS in a patient with hypomelanosis of Ito. Our report suggested that hypomelanosis of Ito may have unilateral dilation of VRS in brain MRI.

Hypopigmented Mycosis Fungoides Mimicking Vitiligo.

ABSTRACT: Hypopigmented mycosis fungoides (HMF) is a clinical variant of MF with a presentation similar to other hypopigmented diseases, especially vitiligo. In this article, we report an adult case of HMF mimicking vitiligo. A 53-year-old man presented with an asymptomatic well-defined focal and hypopigmented patch with erythematous to brownish macules on the flank which had been developing over several months without other cutaneous findings. He had no past medical or trauma history. Skin biopsy from the hypopigmented patch indicated a slightly band-like, superficial dermal infiltrate of lymphocytes with mild cytologic atypia and epidermotropism. Fontana-Masson and Mart-1 stains showed a decrease in the epidermal pigment and the number of basal melanocytes. In addition, CD4 and CD8 stains were positive, predominantly the CD8 stain, and loss of CD7 stain was noted in the epidermal atypical lymphocytes. A T-cell receptor gene rearrangement study from the hyperpigmented area showed monoclonality. Finally, we diagnosed the patient with HMF. After about 17 months of treatment with narrow-band ultraviolet B, the hypopigmented lesion had notably improved in both the clinical and histological aspects. The clinical appearance of our case was similar to vitiligo while clinical improvement was also exceptionally similar to the skin findings from follicular repigmentation after narrow-band ultraviolet B treatment in vitiligo. Therefore, dermatologists should consider the clinical differential diagnosis of HMF in patients with an asymptomatic hypopigmentation, especially in dark-skinned Asian patients.

Woolly hair nevus: case report and review of literature.

Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings. Trichoscopy and dermoscopy may be useful when analyzing this entity. The authors describe a case of woolly hair nevus in a 5-year-old boy and present a review of the literature of woolly hair nevus, including classification, histopathology, associated systemic findings, and the recent described genetic mutations.

Macular hypopigmentation, hair loss and follicular spongiosis: A distinct clinicopathological entity.

BACKGROUND: Hypopigmented macules are seen in a variety of disorders and the diagnosis rests on clinicopathological correlation. However, some cases are difficult to classify and pose a diagnostic challenge. AIM: To describe the clinical and histopathological features of patients with hypopigmented macules and follicular spongiosis on histopathology. MATERIALS AND METHODS: We undertook a retrospective analysis of clinical and histopathological findings in 12 patients who presented with clinically nondiagnostic hypopigmented macules and showed follicular spongiosis on skin biopsy, at All India Institute of Medical Sciences, New Delhi, India between January 2015 and October 2016. The findings were compared with 12 patients with "unclassified" hypopigmented macules, who did not show follicular spongiosis on skin biopsy. RESULTS: A total of 12 patients with hypopigmented macules showed spongiosis affecting the follicular epithelium on histopathology. There were eight men and four women, most in their second decade (mean age 19.1 ± 8.05 years), presenting with hypopigmented macules most commonly on the upper limbs, for a mean duration of 6.33 ± 5.10 months. Clinically evident lesional hair loss was seen in all patients, and follicular prominences in seven (58%) patients. Histological features suggestive of other diagnosis, namely leprosy, mycosis fungoides or sarcoidosis were not seen in any biopsy. Alcian blue stain revealed an minimal amount of mucin in one biopsy. Clinically apparent hair loss and follicular prominences were found to be statistically significantly associated with histological evidence of follicular spongiosis (P < 0.001 and 0.003, respectively). LIMITATIONS: Our study is limited by its retrospective design and small sample size. CONCLUSIONS: Patients with hypopigmented macules and follicular spongiosis on histopathology may represent a distinct clinicopathological entity that is associated with lesional hair loss and follicular prominences. It is probably a variant of an endogenous dermatitis similar to pityriasis alba.