PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.

The Association Between Hair Loss and COVID-19: The Impact of Hair Loss After COVID-19 Infection on the Quality of Life Among Residents in Saudi Arabia.

Background Coronavirus disease 2019 (COVID-19) is an infectious disease that is associated with many health conditions, including, but not limited to, dermatological diseases. Some patients suffer from hair loss after becoming infected with severe acute respiratory syndrome coronavirus 2. Acute telogen effluvium (TE) is a non-scarring hair loss that usually occurs three months after a stressful event and can last up to six months, and it can be associated with post-COVID-19 infections. This study aims to explore the prevalence of hair loss among recovered COVID-19 patients in Saudi Arabia and determine the contributing factors. Furthermore, we aimed to measure the impact of hair loss after COVID-19 on their quality of life. Methodology An observational, cross-sectional study was conducted from September to December 2021 in Saudi Arabia. A questionnaire was used to assess hair loss after being infected with COVID-19. Furthermore, quality of life was assessed using the Dermatology Life Quality Index (DLQI) questionnaire. Participants were recruited by sharing the questionnaire on social media platforms (Twitter, Telegram, and WhatsApp). The data were analyzed using SPSS version 23 (IBM Corp., Armonk, NY, USA). Frequency and percentages were used to display categorical variables, while minimum, maximum, mean, and standard deviation were used to present continuous variables. The categorical variables were compared using a chi-square test, and the statistical significance cut-off was set at p < 0.05. Results A total of 806 participants were included in the study, of whom 52.7% experienced hair loss after COVID-19 infection. Age, gender, high temperature during, and the presence of hair loss prior to infection were significantly associated with the incidence of TE. The severity of life affection based on DLQI showed that 91.4% of the participants did not have severe life affection, while 8.6% had their lives severely affected. Conclusions This study revealed subjective hair loss that was significantly associated with high temperature, being female, and having a history of previous hair loss. Further studies using objective assessments are suggested for reaching more precise conclusions.

Vismodegib for Basal Cell Carcinoma and Beyond: What Dermatologists Need to Know.

Basal cell carcinoma (BCC) is the most common cutaneous malignancy. Although indolent, BCCs can be locally aggressive if untreated. Dysregulated hedgehog (Hh) signaling leads to uncontrolled proliferation in BCC. Vismodegib is a small-molecule antagonist of the Hh pathway that binds to smoothened (SMO), a transmembrane protein, and causes inhibition of an aberrant activation of the Hh pathway. Vismodegib is the first drug approved by the US Food and Drug Administration (FDA) for the management of locally advanced or metastatic BCC.

The Addition of Montelukast for the Treatment of Chronic Idiopathic Urticaria.

Introduction Chronic urticaria (CU) is a common disorder that can significantly affect the quality of life. The goal of treatment is complete symptomatic relief. Conventional therapy, with antihistamines, is not always effective in all patients. Leukotrienes are believed to be involved in the pathogenesis of urticaria. Leukotriene receptor antagonists (LTRAs), such as montelukast, have been suggested as useful agents in patients with chronic idiopathic urticaria. Our objective is to document the efficacy of montelukast in our patients. Materials and methods Patients who received montelukast were identified from clinic letters. Data including clinical features were collected and analyzed. The main endpoint was adequate disease control. Results A total of nine patients who met the inclusion criteria were included in this study. Four patients reported having a good response to montelukast and three patients reported full control of the disease. Conclusion These findings suggest that leukotriene antagonists, such as montelukast, are effective as an add-on therapy to anti-histamines and their use in histamine resistant patients is justifiable.

Pemphigus Vulgaris-Associated Anterior Scleritis: A Case Study.

Ocular involvement in pemphigus vulgaris (PV) is relatively rare. The conjunctiva and eyelids are considered the most common affected sites in ocular pemphigus. Scleritis is rarely reported as a manifestation of PV. We present a case report of anterior scleritis as a manifestation of PV and its response to rituximab therapy.

Dapsone in the Management of Pemphigus and Pemphigoid: Rediscovery of its Long-Lost Efficacy.

Introduction Autoimmune mucocutaneous blistering dermatoses (AMCBD) are a group of disorders characterized by the production of autoantibodies that target specific adhesion molecules of the skin and/or mucous membranes. As a result, there is blister formation on the skin with or without mucous membrane involvement. Systemic corticosteroids have been used as the mainstay of treatment in AMCBD. However, due to the debilitating side effects associated with their use, there is significant morbidity and mortality, especially on the fragile elderly patients. Although the efficacy of dapsone in the treatment of AMCBD was identified decades ago, few recent studies shed light on that. Hence, further studies are needed to evaluate the efficacy of dapsone as a single agent in maintaining disease remission in patients with AMCBD. Materials and methods An observational retrospective study was performed. Patients with a known diagnosis of bullous pemphigoid (BP) or pemphigus vulgaris (PV) who are treated with dapsone with or without low-dose systemic corticosteroids were included in the study, and their medical files were reviewed.  Results A total of seven patients were included (three males and four females). All patients showed a satisfactory response to dapsone, achieving disease remission in a short period of time with no serious side effects necessitating treatment cessation. Conclusions Our findings support that dapsone may have a corticosteroid-sparing effect in the management of AMCBD. Further studies are warranted to confirm our findings.

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Erythrokeratoderma (EK) is heterogeneous clinical entity characterized by excessive scaling with resulting erythrokeratotic plaques. Several genes have been linked to EK and they encode a number of proteins that are important for the integrity of the keratinocyte layer of the epidermis. PERP is a transcription factor that is activated by both p53 and p63. However, its deficiency in a mouse model appears to only recapitulate p63-mediated role in skin development and organization. We report an extended multiplex consanguineous family in which an EK phenotype with a striking similarity to that observed in Perp-/- mice, is mapped to an autozygous region on chromosome 6 that spans PERP. Whole-exome sequencing revealed a novel variant in PERP that fully segregated with the phenotype. Functional analysis of patient- and control-derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. Our results, therefore, support the establishment of an autosomal recessive PERP-related EK phenotype in humans.

Twenty-five year-old female with sudden onset itchy skin eruption over her upper back and chest three weeks after starting a ketogenic diet.

Prurigo pigmentosa is a rare pruritic inflammatory dermatosis with a unique staged clinicopathological presentation. It was first reported by Nagashima in 1971, and recently, more cases have been reported We introduce a case of a young Saudi female who developed biopsy proved prurigo pigmentosa after she followed strict ketogenic diet. Her condition resolved after she resumed a regular diet.

Occasional acne; an acne variant.

This article is about a common skin eruption that dermatologists face regularly in their clinics. It is a form of acne that patients frequently refer to as nightshifts acne, stress acne or airplane acne (after experiencing a prior occasion that might aggravate it). Physical or psychological stress is not the only causative factor, therefore we took into consideration of naming it based on its presentation irrespectively of the skin proneness to acne and self-limiting tendency, we name the entity as "occasional acne". This article will discuss the similarities and differences between this entity and other forms of acne, as well as different causative factors that are involved in the eruption. These factors vary individually whether single or multiple factors might provoke it; maladaptation driven by mental and/or physical stress, temporary imbalance of sebum lipids and nicotine effect, etc.

Unusual presentation of dermatofibroma on the face: Case report.

Dermatofibroma (DF; Benign Fibrous Histiocytoma) seldom presents on the face. We present an unusual case presentation of translucent nodule on the upper right cheek of the face which was diagnosed clinically as basal cell carcinoma. Physician should include DF in the differential of such lesions.

Mucous membrane pemphigoid-associated paronychia with onychomadesis.

BACKGROUND: Mucous membrane pemphigoid (MMP) is an autoimmune blistering disease that is notoriously difficult to treat. Nail involvement in MMP is rare. CASE PRESENTATION: We report on a 58 years old man with severe MMP who presented with onychomadesis. CONCLUSION: To our knowledge, mucous membrane pemphigoid associated paronychia and onychomadesis have not been reported before. We believe it is important for dermatologists to be aware of this entity.

Ipilimumab in anti-PD1 refractory metastatic melanoma: a report of eight cases.

Targeted therapy and immunotherapy in metastatic melanoma have led to a marked improvement in patients' survival and their quality of life. Although there are data on anti-programmed-death-receptor-1 (anti-PD1) after ipilimumab, only few data are available on ipilimumab following anti-PD1 as the first-line treatment. The aim of our study was to evaluate tolerance and survival of patients treated with ipilimumab as the second-line immunotherapy among metastatic melanoma patients following anti-PD1 treatment. Retrospective and descriptive epidemiological studies were carried out at the Dermatology Department of the University Hospital of Lille. We describe a case series of patients treated with ipilimumab after anti-PD1 failure for metastatic melanomas. For each patient, we assessed disease extension since ipilimumab introduction using RECIST 1.1. The time between ipilimumab introduction and other systemic treatment and overall survival (between ipilimumab introduction and last patient visit) was assessed. The effect of ipilimumab after anti-PD1 treatment was evaluated in eight patients. Four patients responded to ipilimumab: three showed a complete response and one showed a partial response. For these patients, the time period between the first ipilimumab injection and another systemic treatment ranged from 209 to 391 days and the overall survival ranged from 314 to 581 days. One patient showed grade 3 chorioretinitis, an unusual toxicity with ipilimumab or anti-PD1 to our knowledge. We have described the efficacy of ipilimumab following anti-PD1 in metastatic melanoma in eight patients. Several comparative studies are still in progress, and their results will be important to develop an optimal therapeutic strategy for our patients.

Perceptions, attitudes, and satisfaction concerning resident participation in health care among dermatology outpatients.

BACKGROUND: A limited number of published studies have discussed patient attitudes toward resident physicians' participation in dermatology clinics. A literature search failed to identify any such study in the Middle East. OBJECTIVE: The aim of this study was to explore patient perceptions and attitudes toward resident participation in dermatology outpatient clinics. METHODS: A self-administered questionnaire focused on patient attitudes toward dermatology resident participation was distributed randomly to all adult outpatients attending dermatology clinics at a university hospital in Saudi Arabia between July and September 2010. RESULTS: The questionnaire was returned by 742 of 900 patients, for an 82% response rate. The mean patient age was 30.58 ± 11.67 years. Forty-two percent (311 of 742) of the respondents were male. The major reason for visiting the hospital was a medical dermatology consultation (80.4%). Only 35% of the patients self-reported an accurate understanding of the "resident" designation. In total, 86.4% of patients were satisfied with the residents' behavior. Furthermore, 98.4% of the patients were satisfied with the medical care provided by the residents. The patients agreed with resident participation in their health care. The majority of the patients expressed their willingness to provide a medical history and receive counseling from residents (87.6% and 86.3%, respectively). There was no gender-associated effect on the understanding of the resident position or the decision to receive a physical examination by a resident. CONCLUSION: Dermatology outpatients are satisfied and have positive perceptions and attitudes toward resident participation in the dermatology clinic.