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.

Role of zinc in chronic telogen effluvium in serum and hair of patients with alopecia.

Objectives: To determine the levels of zinc in hair and serum samples of chronic telogen effluvium patients. METHODS: The case-control study was conducted at the Dow University of Health Sciences, Karachi, from April 2017 to May 2018, and comprised diagnosed cases of chronic telogen effluvium in group A, and healthy controls matched for age and gender in group B. Hair pull test was done, and level of zinc in hair and serum samples was determined using atomic absorption spectrophotometer. Data was analysed using SPSS 21. RESULTS: Of the 100 subjects, 50(50%) were in group A; 28(56%) females ad 22(44%) males with mean age 27.46±4.98 years. There were 50(50%) subejcts in group B; 26(52%) males ad 24(48%) females with mean age 28.34±4.92 years (p>0.05). Significantly low levels of zinc were observed in serum as well as hair samples in group A compared to group B (p<0.05). A positive significant association was observed in the level of zinc in hair with their concentration in the serum of subjects in both the groups (r=0.310, p<0.05). CONCLUSIONS: Low levels of zinc in hair and serum were found to be associated with chronic telogen effluvium.

Male-Pattern Vertex Baldness Trajectories, Chest Hair Patterns, and Odds of Overall and Aggressive Prostate Cancer.

BACKGROUND: The link between hormones and hair growth is well established. Inconsistent associations have been found between hair patterns and cancer of the prostate, a hormone-dependent organ. We assessed vertex baldness trajectories, chest hair amount, and their relationships with the odds of developing prostate cancer in a large case-control study in Montreal, Canada. METHODS: In-person interviews were conducted with 1,931 incident prostate cancer cases and 1,994 population-based age-matched (±5 years) controls. Participants reported their hair patterns using the validated Hamilton-Norwood scale of baldness for 10-year increments starting at age 30, and their current amount of chest hair. Group-based trajectories were used to identify men sharing similar patterns of vertex baldness severity over adulthood. Multivariable logistic regression assessed associations between indicators of baldness (frontal, vertex, age at onset, severity, and trajectories), chest hair, and odds of prostate cancer. RESULTS: Vertex balding onset at age 30 was associated with increased odds of overall prostate cancer [Odds ratio (OR), 1.30; 95% confidence interval (CI), 1.03-1.64]. Men in the trajectory characterized by early moderate vertex baldness and developing severe baldness had increased odds of overall (OR, 1.42; 95% CI, 1.03-1.96) and especially aggressive prostate cancer (OR, 1.98; 95% CI, 1.21-3.22) compared with men without baldness. Men with little chest hair had higher odds of aggressive tumors than those with a moderate amount/a lot of chest hair. CONCLUSIONS: Early-onset moderate vertex baldness that progresses and having little chest hair may be useful biomarkers of aggressive prostate cancer. IMPACT: Integration of early-onset vertex balding patterns into risk prediction models of aggressive prostate cancer should be envisaged.

Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.

Clinical effects of autologous follicular unit extraction transplantation in the treatment of secondary cicatricial alopecia after infections.

OBJECTIVE: To explore the clinical effects of autologous follicular unit extraction (FUE) transplantation in the treatment of secondary scarring alopecia caused by infections, and to evaluate its effectiveness. METHODS: A retrospective observational study has been conducted, which included nine patients with secondary scarring alopecia caused by infections. All patients underwent initial autologous FUE hair transplantation surgery, and the occurrence of postoperative complications was monitored. Patient satisfaction was evaluated after 12 months post-surgery. RESULTS: At the follow-up, postoperative satisfaction was 88.9% in nine patients, with only one case of postoperative infection and no incidence of skin necrosis, significant bruising and swelling, unnatural appearance or temporary hair loss. CONCLUSIONS: Autologous FUE hair transplantation is an effective method for treating secondary scarring alopecia caused by infections. This procedure is minimally invasive, resulting in high patient satisfaction and minimal complications postoperatively.

Skin manifestations in adults with gender dysphoria on hormone treatment in the outpatient clinic of Hospital de San José, Bogotá-Colombia.

BACKGROUND: Comprehensive healthcare for patients with gender dysphoria includes access to gender-affirming hormone therapy. It may cause cutaneous and adnexal side effects, which often affect quality of life, are underdiagnosed, and do not receive timely treatment. The literature on this subject is scarce. The main objective was to identify skin manifestations secondary to hormone treatment in adults with gender dysphoria. METHODS: Observational, descriptive, cross-sectional study. A search was performed in the database of patients with gender dysphoria older than 18 years treated at the dermatology and/or endocrinology outpatient clinic of the Hospital de San José de Bogotá in the period 2015-2021. Medical records of patients on hormone therapy with skin manifestations were selected, while patients using other medications as possible triggers were excluded. RESULTS: In total, 85 patients were included, with a predominance of young transgender men (average age was 27 ± 9 years) in whom the main manifestation was acne (87%), followed by androgenetic alopecia and acanthosis nigricans. Transgender women presented more acne, androgenetic alopecia, hypertrichosis, seborrheic dermatitis, and melasma. The majority received treatment, mainly topical therapies. More than half of the patients were treated by the endocrinology and dermatology services. CONCLUSIONS: Skin manifestations in patients with gender dysphoria on hormone therapy are frequent, so they should be known and taken into account in the multidisciplinary approach to these patients, which should involve dermatologists. This is the first Colombian and Latin American study focused on documenting skin manifestations in patients with gender dysphoria undergoing hormone therapy.

[Systemic lupus erythematosus associated macrophage activation syndrome with neuropsychiatric symptoms: A report of 2 cases].

Systemic lupus erythematosus (SLE) associated macrophage activation syndrome (MAS) is clinically severe, with a high mortality rate and rare neuropsychiatric symptoms. In the course of diagnosis and treatment, it is necessary to actively determine whether the neuropsychiatric symptoms in patients are caused by neuropsychiatric systemic lupus erythematosus (NPSLE) or macrophage activation syndrome. This paper retrospectively analyzed the clinical data of 2 cases of SLE associated MAS with neuropsychiatric lesions, Case 1: A 30-year-old female had obvious alopecia in 2019, accompanied by emaciation, fatigue and dry mouth. In March 2021, she felt weak legs and fell down, followed by fever and chills without obvious causes. After completing relevant examinations, she was diagnosed with SLE and given symptomatic treatments such as hormones and anti-infection, but the patient still had fever. The relevant examinations showed moderate anemia, elevated ferritin, elevated triglycerides, decreased NK cell activity, and a perforin positivity rate of 4.27%, which led to the diagnosis of "pre-hemophagocytic syndrome (HPS)". In May 2021, the patient showed mental trance and babble, and was diagnosed with "SLE-associated MAS"after completing relevant examinations. After treatment with methylprednisolone, anti-infection and psychotropic drugs, the patient's temperature was normal and mental symptoms improved. Case 2: A 30-year-old female patient developed butterfly erythema on both sides of the nose on her face and several erythema on her neck in June 2019, accompanied by alopecia, oral ulcers, and fever. She was diagnosed with "SLE" after completing relevant examinations, and her condition was relieved after treatment with methylprednisolone and human immunoglobulin. In October 2019, the patient showed apathy, no lethargy, and fever again, accompanied by dizziness and vomiting. The relevant examination indicated moderate anemia, decreased NK cell activity, elevated triglycerides, and elevated ferritin. The patient was considered to be diagnosed with "SLE, NPSLE, and SLE-associated MAS". After treatment with hormones, human immunoglobulin, anti-infection, rituximab (Mabthera), the patient's condition improved and was discharged from the hospital. After discharge, the patient regularly took methylprednisolone tablets (Medrol), and her psychiatric symptoms were still intermittent. In November 2019, she developed symptoms of fever, mania, and delirium, and later turned to an apathetic state, and was given methylprednisolone intravenous drip and olanzapine tablets (Zyprexa) orally. After the mental symptoms improved, she was treated with rituximab (Mabthera). Later, due to repeated infections, she was replaced with Belizumab (Benlysta), and she was recovered from her psychiatric anomalies in March 2021. Through the analysis of clinical symptoms, imaging examination, laboratory examination, treatment course and effect, it is speculated that the neuropsychiatric symptoms of case 1 are more likely to be caused by MAS, and that of case 2 is more likely to be caused by SLE. At present, there is no direct laboratory basis for the identification of the two neuropsychiatric symptoms. The etiology of neuropsychiatric symptoms can be determined by clinical manifestations, imaging manifestations, cerebrospinal fluid detection, and the patient's response to treatment. Early diagnosis is of great significance for guiding clinical treatment, monitoring the condition and judging the prognosis. The good prognosis of the two cases in this paper is closely related to the early diagnosis, treatment and intervention of the disease.

Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector.

Type II rickets is a hereditary disease caused by a mutation in the vitamin D receptor (VDR) gene. The main symptoms of this disease are bone dysplasia and alopecia. Bone dysplasia can be ameliorated by high calcium intake; however, there is no suitable treatment for alopecia. In this study, we verified whether gene therapy using an adenoviral vector (AdV) had a therapeutic effect on alopecia in Vdr-KO rats. The VDR-expressing AdV was injected into six 7-week-old female Vdr-KO rats (VDR-AdV rats). On the other hand, control-AdV was injected into 7-week-old female rats (control-AdV rats); non-infected Vdr-KO rats (control rats) were also examined. The hair on the backs of the rats was shaved with hair clippers, and VDR-AdV or control-AdV was intradermally injected. Part of the back skin was collected from each rat after AdV administration. Hair follicles were observed using hematoxylin and eosin staining, and VDR expression was examined using immunostaining and western blotting. VDR-AdV rats showed significant VDR expression in the skin, enhanced hair growth, and low cyst formation, whereas control-AdV and non-infected rats did not show any of these effects. The effect of VDR-AdV lasted for nearly 60 days. These results indicate that gene therapy using VDR-AdV may be useful to treat alopecia associated with type II rickets, if multiple injections are possible after a sufficient period of time.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.

Association between androgenetic alopecia and periodontitis.

AIM: Androgenic alopecia (AGA) is men's most common form of hair loss. It is affected by changes in the expression and activity of 5αR and the metabolism of testosterone and DHT. There is an association between AGA and systemic inflammatory diseases. We hypothesized that there is an association between AGA and periodontal disease, as inflamed gingiva and periodontal fibroblasts have been shown to express more 5αR. Thus, this study aimed to evaluate the relationship between periodontal disease and AGA and the potential effect of aging on this association. MATERIALS AND METHODS: Out of a cohort of 1088 individuals, 385 white males aged 25-65 with similar socioeconomic levels and without systemic disease were included. Periodontitis was defined using NHANES data. AGA was evaluated using the Norwood-Hamilton scale. The relationship between AGA, periodontal disease severity, and age was assessed. RESULTS: There was a correlation between age and baldness (r = .421, p < .001). There was a significant correlation between AGA and periodontal disease in younger patients aged 25-34 and 35-44. (p < .042 and p < .036, respectively). There was no significant correlation between AGA and periodontal disease in the 45-54 and 55-65 age groups (p > .05). CONCLUSION: There may be a relationship between periodontal disease and AGA in the 25-44 age range, suggesting that this association starts at an early age in adulthood.

Non-scarring alopecia of lupus erythematosus: A comprehensive review.

BACKGROUND: Although non-scarring alopecia (NSA) is a frequent clinical finding in patients with systemic lupus erythematosus (SLE), it has been poorly described in the literature. It is considered a nonspecific sign in the current classification of skin lesions of LE. The aim of this study was to give an updated overview of the spectrum of NSA in LE patients, with emphasis on the clinical significance thereof. METHOD: We conducted a review of the English literature using the PubMed-Medline database using the keywords "Alopecia" + "Lupus erythematosus". Publications describing LE patients with NSA were included. RESULTS: Data for 237 patients from 27 publications were analyzed. Ninety-one patients had diffuse NSA, 43 had patchy NSA, 83 had lupus hair, 3 had alopecia of dermal cutaneous LE, and 17 had alopecia of linear and annular lupus panniculitis of the scalp. Patients with diffuse/patchy NSA and lupus hair shared the following features: strong association with systemic activity of LE, subtle clinical/trichoscopic signs of inflammation, histological aspect consistent with lesions specific to cutaneous LE, high likelihood of response to SLE therapy, and absence of progression to scarring alopecia. Association with SLE was rare in patients with dermal cutaneous LE or linear and annular lupus panniculitis of the scalp, and skin-directed therapies were most often effective. One patient of each subtype progressed to scarring alopecia. DISCUSSION: Diffuse/patchy NSA and lupus hair may represent a topographic variation of a single entity specific for LE. Prospective studies are warranted to further document the clinical significance of this manifestation.

[Review of the post-COVID-19 syndrome associated to acute telogen effluvium]. / Revisión del síndrome post-COVID-19 asociado a efluvio telógeno agudo.

Coronavirus disease 2019 (COVID-19) has impacted our society in numerous ways. So far (November 2022) around 640 million SARS-CoV-2 infections have been confirmed worldwide. It is known that this disease has a main affection at the cardiopulmonary level, however, it affects almost all the organs and systems of the body, including the skin. Post-COVID-19 syndrome occurs in some patients, leaving significant sequelae that impact their quality of life. Among the most common sequelae are: cough, dyspnea, chronic fatigue, hyposmia and dysosmia. In addition to these, other sequelae not related to respiratory syndrome have been reported, such as hair loss, which has been observed in around 20% of post-COVID-19 patients, this could be attributable to acute telogen effluvium (TE). To date, no study has been conducted to determine the relationship of ET in those who have had COVID-19. Acute ET is defined as diffuse, non-scarring hair loss, usually self-limited, lasting for about 6 months. Within its etiology, severe systemic febrile illness, pregnancy, restrictive diets, severe stress and various drugs have been described. It seriously affects the quality of life of patients and is often associated with loss of confidence and low self-esteem.

La enfermedad por coronavirus 2019 (COVID-19) ha impactado a nuestra sociedad en numerosos aspectos. Hasta el momento (noviembre 2022) se han confirmado alrededor de 640 millones de infecciones por SARS-CoV-2 en el mundo. Se sabe que esta enfermedad tiene afección principal a nivel cardiopulmonar, sin embargo, afecta casi todos los órganos y sistemas del cuerpo, entre ellos, la piel. El síndrome post-COVID-19 se presenta en algunos pacientes dejando secuelas significativas que impactan su calidad de vida. Entre las secuelas más comunes se encuentran: tos, disnea, fatiga crónica, hiposmia y disosmia. Además de estas se han presentado otras secuelas no relacionadas con el síndrome respiratorio, como la caída de pelo, que se ha observado en alrededor del 20% de los pacientes post-COVID-19, esto podría ser atribuible al efluvio telógeno (ET) agudo. Hasta la fecha, no se ha realizado ningún estudio para determinar la relación del ET en quienes han tenido COVID-19. El ET agudo se define como una pérdida de pelo difusa, no cicatrizal, generalmente autolimitada, con una duración de alrededor de 6 meses. Dentro de su etiología, se han descrito la enfermedad febril severa sistémica, el embarazo, las dietas restrictivas, el estrés severo y diversos fármacos. Afecta gravemente la calidad de vida de los pacientes y, a menudo, se asocia con pérdida de confianza y baja autoestima.

Basaloid follicular hamartoma syndrome: acquired sporadic variant with hypothyroidism, hypohidrosis and alopecia, a rare case.

Basaloid follicular hamartoma is a rare benign malformation of hair follicles, characterised clinically as generalised or localised multiple brown papules mostly on face, scalp and trunk. It may be congenital or acquired with or without any associated disease. Histologically it is composed of epithelial proliferation of basaloid cells with radial disposition enclosed in a fibrous stroma. It is of important consideration because it can be mistaken for basal cell carcinoma both clinically and histologically. Here we report the case of a 51-year-old female with acquired, generalised basaloid follicular hamartomas associated with alopecia, hypothyroidism and hypohidrosis which is an extremely rare disease.

Recalcitrant Cutaneous Lupus Erythematosus during COVID-19 Pandemic: A Case Report.

A 30-year-old woman visited the dermatology and venereology clinic with red rashes on her cheeks with spreading wounds to the ears present for 6 months. Similar ailments were also found on the chest and upper arms accompanying black spots on both palms. Initially, red rashes appeared intermittently, observed around the eyes and cheeks, especially at sun exposure. Tenderness or pruritus was not present; however, the patient had joints ache, sore fingers, hair loss as well as frequent fever.