Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.

We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness. Initially, we were faced with the question of whether the phenotype in this family was due to the effects of a single pleiotropic, presumably autosomal recessive gene manifesting as a syndromic form of ichthyosis, or whether there were multiple causal genes, and the ichthyosis was non-syndromic. Ultimately, clinical follow-up of the family, combined with research-based exome sequencing established a diagnosis of NIPAL4 autosomal recessive congenital ichthyosis in both brothers, but the ocular abnormalities causing blindness in the older brother were due to coexisting autosomal recessively inherited loss of function mutations in peroxidasin, the latter finding also seen in a sister unaffected by ichthyosis.

Vesicular Darier's disease: a case report and review of the English literature of a rare disease variant.

Darier's disease is an autosomal dominant inherited skin disorder resulting from mutations in the ATP2A2 gene, which encodes SERCA2, an endoplasmic reticulum calcium ATPase. Darier's disease classically manifests as confluent hyperkeratotic brown-to-red papules that manifest and follow a seborrheic distribution, which include the chest, neck, trunk, and face. Vesicular Darier's disease is a rare variant of the disorder where patients develop numerous vesicles and bullae concurrently or independent of the more typical lesions found in Darier's disease.

Generalized pruritus as a symptom of hyperferritinemia: A case report and review of the literature.

Generalized pruritus can be the manifestation of many dermatologic and systemic diseases. However, it has been reported infrequently in the literature as a consequence of hyperferritinemia. We report the case of a 70-year-old male presenting to dermatology due to generalized pruritus in the absence of a rash, who was subsequently found to have a significantly elevated serum ferritin and transferrin saturation with otherwise normal iron studies. Hereditary hemochromatosis was ruled out on genetic testing; however, etiologies of secondary iron overload including alcohol use disorder and non-alcoholic fatty liver disease were present. The patient had minimal relief of his pruritus with topical corticosteroids, oral prednisone, and moisturizers. The only successful treatment was phlebotomy which resulted in complete resolution of his long-standing pruritus. We present the fifth case of generalized pruritus associated with hyperferritinemia, treated successfully with phlebotomy.

Case report of hidradenitis suppurativa localized to the face in an HIV patient.

Hidradenitis suppurativa is a chronic, debilitating inflammatory skin disease. Case reports of individuals with hidradenitis suppurativa presenting exclusively on the face, as well as reports of individuals with HIV and hidradenitis suppurativa, are rare. Here, we present the case of an HIV-positive man who presented with hidradenitis suppurativa localized only on his face. We also review facial hidradenitis suppurativa and hidradenitis suppurativa in HIV patients.

Drug-induced acanthosis nigricans: A systematic review and new classification.

Drug-induced acanthosis nigricans is an uncommon subtype of acanthosis nigricans and the data on this topic is not well understood by clinicians as it is presently limited in the literature. Previous reports of drug-induced acanthosis nigricans have simply consisted of a list of drugs possibly implicated in causing acanthosis nigricans. Several drugs listed are based on single case reports without biopsy confirmation, report of clearing on stopping the drug or reporting on whether acanthosis nigricans recurred with drug rechallenge. A comprehensive literature search was conducted using PubMed, EMBASE(Ovid), Cochrane Library, Scopus, and Web of Science electronic databases. The authors screened the initial result of the search strategy by title and abstract using the following inclusion criteria: eligible studies included those with patients who developed acanthosis nigricans secondary to a drug. This study is the first to comprehensively review the drugs that have been implicated in the development of acanthosis nigricans. A total of 38 studies were included in the systematic review, and a total of 13 acanthosis nigricans inducing drugs were identified. Nicotinic acid and insulin were the two most significant drugs that were reported to cause acanthosis nigricans. By using the results of this study, we created a revised classification system of drug-induced acanthosis nigricans which can be used as a concise framework for clinicians to refer to.

Pityriasis in dermatology: an updated review.

Dermatology has a very distinctive lexicon. The term pityriasis refers to several dermatologic conditions which all feature scaling of the skin. According to the Merriam-Webster dictionary, the term pityriasis was first used in print in 1684. Although the diseases beginning with the name pityriasis are of diverse causation, they do represent important dermatologic diseases, with some common and others quite rare. It is important for dermatologists to be aware and updated on all pityriasis conditions in dermatology.

Pediatric red ear syndrome: A case report of an erythromelalgia type and review of the literature.

Red ear syndrome has been reported in the literature to have similarities to erythromelalgia with auricular involvement; however, the distinction between the two is controversial. Red ear syndrome has previously been classified as idiopathic (primary) or secondary, with headaches being the most common association in the idiopathic or primary form. We present a case of pediatric red ear syndrome with hand and foot involvement that we believe represents auricular erythromelalgia. In this report, we propose a classification system to unify the diagnoses of red ear syndrome and erythromelalgia and review the literature on pediatric cases of red ear syndrome.

Koebner phenomenon in leukocytoclastic vasculitis: A case report and an updated review of the literature.

Leukocytoclastic vasculitis is the most common form of cutaneous vasculitis. It is a neutrophilic small vessel vasculitis resulting from the deposition of circulating immune complexes. Henoch-Schonlein purpura is a systemic type of leukocytoclastic vasculitis, characterized by immunoglobulin A-mediated blood vessel injury. We present a case of Henoch-Schonlein purpura in an adult female manifesting with a vasculitic rash with Koebner phenomenon.

Assessment of a Bidirectional Association Between Major Depressive Disorder and Alopecia Areata.

Importance: Alopecia areata (AA) is an autoimmune disease characterized by hair loss that can impose a substantial psychological burden on patients, including major depressive disorder (MDD), yet many patients report mental health symptoms prior to the onset of AA. As such, there may be an association between MDD and AA that acts in both directions. Objective: To assess the bidirectional association between MDD and AA. Design, Setting, and Participants: This population-based retrospective cohort study included patients 10 to 90 years of age registered with The Health Improvement Network in general practices in the United Kingdom between January 1, 1986, and May 16, 2012. Statistical analysis was conducted from August 17, 2017, to April 23, 2018. To assess the risk of AA, the following 2 cohorts were defined: patients with an incident diagnosis of MDD (exposure) and a reference general population cohort. To assess the risk of MDD, the following 2 cohorts were defined: patients with an incident diagnosis of AA (exposure) and a reference general population cohort. Person-time was partitioned into unexposed and exposed time in the exposure cohorts. Main Outcomes and Measures: In the analysis of the risk of AA, development of incident AA during follow-up was considered the main outcome measure. In the analysis of the risk of MDD, development of incident MDD during follow-up was considered the primary outcome measure. Results: In the analysis of the risk of AA, 405 339 patients who developed MDD (263 916 women and 141 423 men; median age, 36.7 years [interquartile range, 26.6-50.5 years]) and 5 738 596 patients who did not develop MDD (2 912 201 women and 2 826 395 men; median age, 35.8 years [interquartile range, 25.3-52.6 years]) were followed up for 26 years. After adjustment for covariates, MDD was found to increase the risk of subsequently developing AA by 90% (hazard ratio, 1.90; 95% CI, 1.67-2.15; P < .001). Antidepressants demonstrated a protective effect on the risk of AA (hazard ratio, 0.57; 95% CI, 0.53-0.62; P < .001). In the analysis of the risk of MDD, 6861 patients who developed AA (3846 women and 3015 men; median age, 31.5 years [interquartile range, 18.2 years]) and 6 137 342 patients who did not develop AA (3 172 371 women and 2 964 971 men; median age, 35.9 years [interquartile range, 27.0 years]) were followed up for 26 years. After adjustment for covariates, AA was found to increase the risk of subsequently developing MDD by 34% (hazard ratio, 1.34; 95% CI, 1.23-1.46; P < .001). Conclusions and Relevance: These temporal analyses suggest that, while patients with AA are at risk for subsequently developing MDD, having MDD also appears to be a significant risk factor for development of AA, with antidepressant use confounding this risk.

Facial Involvement in Dermatitis Herpetiformis: A Case Report and Review of the Literature.

Dermatitis herpetiformis is a cutaneous manifestation of celiac disease that classically presents as a symmetric pruritic vesicular eruption on extensor surfaces. Typical locations include elbows, knees, and buttocks. Facial involvement has been reported rarely. Here, we report a case of a 44-year-old woman with dermatitis herpetiformis presenting as pruritic vesicles on the face that had previously been misdiagnosed as allergic contact dermatitis. Diagnosis was confirmed with direct immunofluorescence demonstrating granular IgA in the papillary dermis. This eruption cleared with topical dapsone 5% gel and a gluten-free diet. We report this case to raise awareness of facial involvement in dermatitis herpetiformis as well as the possibility of topical dapsone as a therapeutic option.

Vitiligo and major depressive disorder: A bidirectional population-based cohort study.

BACKGROUND: Vitiligo patients often report their mental health has an effect on their skin. However, it is unknown as to whether a common mental disorder, such as major depressive disorder (MDD), can also precipitate the onset of vitiligo. OBJECTIVE: Evaluate a bidirectional relationship between MDD and vitiligo using The Health Improvement Network database. METHODS: Incident MDD and referent cohorts were followed until the development of vitiligo. Also, incident vitiligo and referent cohorts were followed until the development of MDD. Cox proportional hazards models were used, and numerous covariates were adjusted for. RESULTS: In adjusted models, MDD patients (n = 405,397) were at a 64% increased risk for vitiligo (hazard ratio 1.64, 95% confidence interval [CI] 1.43-1.87, P < .0001) compared with the referent cohort (n = 5,739,048). This risk was decreased in patients using antidepressants. Compared with the referent cohort (n = 6,137,696), patients with vitiligo (n = 7104) that were <30 years of age at diagnosis had a higher risk of developing MDD than patients ≥30 years of age (hazard ratio 1.31, 95% CI 1.14-1.50, P < .0001 vs 1.22, 95% CI 1.08-1.37, P = .001, respectively). LIMITATIONS: This study did not evaluate the severity of MDD or vitiligo on outcome development. CONCLUSION: These results highlight the burden of depression in patients with vitiligo and support the possible existence of pathophysiological connections between these 2 conditions.